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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.


Current Build 154

Released April 21, 2020

Homo sapiens
chr2:203874196 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Variation Type
SNV Single Nucleotide Variation
A=0.436558 (60679/138994, ALFA Project)
A=0.359264 (45112/125568, TOPMED)
A=0.33000 (25970/78698, PAGE_STUDY) (+ 16 more)
A=0.34783 (10903/31346, GnomAD)
A=0.3690 (1848/5008, 1000G)
A=0.3862 (1730/4480, Estonian)
A=0.4504 (1736/3854, ALSPAC)
A=0.4552 (1688/3708, TWINSUK)
A=0.1694 (495/2922, KOREAN)
A=0.3055 (578/1892, HapMap)
A=0.1627 (298/1832, Korea1K)
G=0.4736 (538/1136, Daghestan)
A=0.457 (456/998, GoNL)
A=0.375 (225/600, NorthernSweden)
G=0.342 (113/330, SGDP_PRJ)
G=0.454 (98/216, Qatari)
A=0.307 (65/212, Vietnamese)
A=0.40 (16/40, GENOME_DK)
G=0.45 (10/22, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CTLA4 : 500B Downstream Variant
185 citations
Genomic View
See rs on genome

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 2 NC_000002.12:g.203874196G>A
GRCh37.p13 chr 2 NC_000002.11:g.204738919G>A
CTLA4 RefSeqGene (LRG_1220) NG_011502.1:g.11411G>A
Gene: CTLA4, cytotoxic T-lymphocyte associated protein 4 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
CTLA4 transcript variant 2 NM_001037631.3:c. N/A Downstream Transcript Variant
CTLA4 transcript variant 1 NM_005214.5:c. N/A Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 31961 )
ClinVar Accession Disease Names Clinical Significance
RCV000018429.1 Hashimoto thyroiditis, susceptibility to Risk-Factor
RCV000018430.4 Celiac disease 3 Risk-Factor

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 138994 G=0.563442 A=0.436558
European Sub 120902 G=0.553399 A=0.446601
African Sub 5324 G=0.7714 A=0.2286
African Others Sub 184 G=0.832 A=0.168
African American Sub 5140 G=0.7693 A=0.2307
Asian Sub 352 G=0.713 A=0.287
East Asian Sub 224 G=0.795 A=0.205
Other Asian Sub 128 G=0.570 A=0.430
Latin American 1 Sub 630 G=0.616 A=0.384
Latin American 2 Sub 3462 G=0.5867 A=0.4133
South Asian Sub 82 G=0.46 A=0.54
Other Sub 8242 G=0.5573 A=0.4427


Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Study Population Group Sample Size Ref Allele Alt Allele
ALFA Total Global 138994 G=0.563442 A=0.436558
ALFA European Sub 120902 G=0.553399 A=0.446601
ALFA Other Sub 8242 G=0.5573 A=0.4427
ALFA African Sub 5324 G=0.7714 A=0.2286
ALFA Latin American 2 Sub 3462 G=0.5867 A=0.4133
ALFA Latin American 1 Sub 630 G=0.616 A=0.384
ALFA Asian Sub 352 G=0.713 A=0.287
ALFA South Asian Sub 82 G=0.46 A=0.54
TopMed Global Study-wide 125568 G=0.640736 A=0.359264
The PAGE Study Global Study-wide 78698 G=0.67000 A=0.33000
The PAGE Study AfricanAmerican Sub 32514 G=0.76672 A=0.23328
The PAGE Study Mexican Sub 10810 G=0.56189 A=0.43811
The PAGE Study Asian Sub 8318 G=0.7123 A=0.2877
The PAGE Study PuertoRican Sub 7916 G=0.6205 A=0.3795
The PAGE Study NativeHawaiian Sub 4534 G=0.5201 A=0.4799
The PAGE Study Cuban Sub 4230 G=0.5485 A=0.4515
The PAGE Study Dominican Sub 3828 G=0.6272 A=0.3728
The PAGE Study CentralAmerican Sub 2450 G=0.6286 A=0.3714
The PAGE Study SouthAmerican Sub 1982 G=0.5757 A=0.4243
The PAGE Study NativeAmerican Sub 1260 G=0.6040 A=0.3960
The PAGE Study SouthAsian Sub 856 G=0.429 A=0.571
gnomAD - Genomes Global Study-wide 31346 G=0.65217 A=0.34783
gnomAD - Genomes European Sub 18868 G=0.59413 A=0.40587
gnomAD - Genomes African Sub 8702 G=0.7788 A=0.2212
gnomAD - Genomes East Asian Sub 1552 G=0.7700 A=0.2300
gnomAD - Genomes Other Sub 1088 G=0.5855 A=0.4145
gnomAD - Genomes American Sub 846 G=0.567 A=0.433
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.497 A=0.503
1000Genomes Global Study-wide 5008 G=0.6310 A=0.3690
1000Genomes African Sub 1322 G=0.8238 A=0.1762
1000Genomes East Asian Sub 1008 G=0.7371 A=0.2629
1000Genomes Europe Sub 1006 G=0.5298 A=0.4702
1000Genomes South Asian Sub 978 G=0.373 A=0.627
1000Genomes American Sub 694 G=0.620 A=0.380
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6138 A=0.3862
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5496 A=0.4504
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5448 A=0.4552
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8306 A=0.1694
HapMap Global Study-wide 1892 G=0.6945 A=0.3055
HapMap American Sub 770 G=0.584 A=0.416
HapMap African Sub 692 G=0.850 A=0.150
HapMap Asian Sub 254 G=0.756 A=0.244
HapMap Europe Sub 176 G=0.477 A=0.523
Korean Genome Project KOREAN Study-wide 1832 G=0.8373 A=0.1627
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.4736 A=0.5264
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.465 A=0.535
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.403 A=0.597
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.557 A=0.443
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.574 A=0.426
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.48 A=0.52
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.31 A=0.69
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.543 A=0.457
Northern Sweden ACPOP Study-wide 600 G=0.625 A=0.375
SGDP_PRJ Global Study-wide 330 G=0.342 A=0.658
Qatari Global Study-wide 216 G=0.454 A=0.546
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.693 A=0.307
The Danish reference pan genome Danish Study-wide 40 G=0.60 A=0.40
Siberian Global Study-wide 22 G=0.45 A=0.55

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p12 chr 2 NC_000002.12:g.203874196= NC_000002.12:g.203874196G>A
GRCh37.p13 chr 2 NC_000002.11:g.204738919= NC_000002.11:g.204738919G>A
CTLA4 RefSeqGene (LRG_1220) NG_011502.1:g.11411= NG_011502.1:g.11411G>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

118 SubSNP, 19 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 FHCRC ss4318740 Jan 05, 2002 (102)
2 JDRF_WT_DIL ss16343657 Feb 27, 2004 (120)
3 ABI ss44315036 Mar 13, 2006 (126)
4 SNP500CANCER ss48293461 Mar 13, 2006 (126)
5 AFFY ss66079983 Nov 30, 2006 (127)
6 AFFY ss76019754 Dec 08, 2007 (130)
7 KRIBB_YJKIM ss81930522 Dec 14, 2007 (130)
8 HGSV ss83655529 Dec 14, 2007 (130)
9 HUMANGENOME_JCVI ss97114049 Feb 04, 2009 (130)
10 BGI ss103661233 Dec 01, 2009 (131)
11 1000GENOMES ss110606444 Jan 25, 2009 (130)
12 WTCCC ss120254415 Dec 01, 2009 (131)
13 ENSEMBL ss139927002 Dec 01, 2009 (131)
14 ILLUMINA ss160608721 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss165840550 Jul 04, 2010 (132)
16 AFFY ss170499862 Jul 04, 2010 (132)
17 BUSHMAN ss201621694 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss205828043 Jul 04, 2010 (132)
19 1000GENOMES ss219762014 Jul 14, 2010 (132)
20 1000GENOMES ss231550392 Jul 14, 2010 (132)
21 1000GENOMES ss239019961 Jul 15, 2010 (132)
22 ILLUMINA ss244293534 Jul 04, 2010 (132)
23 BL ss253824254 May 09, 2011 (134)
24 GMI ss276866030 May 04, 2012 (137)
25 PJP ss292470245 May 09, 2011 (134)
26 ILLUMINA ss410928037 Sep 17, 2011 (135)
27 ILLUMINA ss480747200 May 04, 2012 (137)
28 ILLUMINA ss480763079 May 04, 2012 (137)
29 ILLUMINA ss481649285 Sep 08, 2015 (146)
30 ILLUMINA ss485168379 May 04, 2012 (137)
31 EXOME_CHIP ss491330048 May 04, 2012 (137)
32 ILLUMINA ss537159729 Sep 08, 2015 (146)
33 TISHKOFF ss556162565 Apr 25, 2013 (138)
34 SSMP ss649829304 Apr 25, 2013 (138)
35 ILLUMINA ss778515281 Sep 08, 2015 (146)
36 ILLUMINA ss780684157 Sep 08, 2015 (146)
37 ILLUMINA ss783030400 Sep 08, 2015 (146)
38 ILLUMINA ss783357588 Sep 08, 2015 (146)
39 ILLUMINA ss783990103 Sep 08, 2015 (146)
40 ILLUMINA ss832288016 Sep 08, 2015 (146)
41 ILLUMINA ss833971594 Sep 08, 2015 (146)
42 EVA-GONL ss977865114 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1069868620 Aug 21, 2014 (142)
44 1000GENOMES ss1301286360 Aug 21, 2014 (142)
45 HAMMER_LAB ss1397317537 Sep 08, 2015 (146)
46 DDI ss1428882722 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1579284674 Apr 01, 2015 (144)
48 EVA_DECODE ss1587317315 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1605600452 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1648594485 Apr 01, 2015 (144)
51 EVA_SVP ss1712523999 Apr 01, 2015 (144)
52 ILLUMINA ss1752334027 Sep 08, 2015 (146)
53 ILLUMINA ss1752334028 Sep 08, 2015 (146)
54 HAMMER_LAB ss1798216445 Sep 08, 2015 (146)
55 ILLUMINA ss1917758759 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1921111733 Feb 12, 2016 (147)
57 ILLUMINA ss1946063985 Feb 12, 2016 (147)
58 ILLUMINA ss1958496544 Feb 12, 2016 (147)
59 GENOMED ss1969002602 Jul 19, 2016 (147)
60 JJLAB ss2021098287 Sep 14, 2016 (149)
61 ILLUMINA ss2094914916 Dec 20, 2016 (150)
62 ILLUMINA ss2095108181 Dec 20, 2016 (150)
63 ILLUMINA ss2095108182 Dec 20, 2016 (150)
64 USC_VALOUEV ss2149163761 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2238400825 Dec 20, 2016 (150)
66 TOPMED ss2404846997 Dec 20, 2016 (150)
67 ILLUMINA ss2633728513 Nov 08, 2017 (151)
68 ILLUMINA ss2633728514 Nov 08, 2017 (151)
69 ILLUMINA ss2633728515 Nov 08, 2017 (151)
70 ILLUMINA ss2635100164 Nov 08, 2017 (151)
71 GRF ss2703811296 Nov 08, 2017 (151)
72 GNOMAD ss2785312496 Nov 08, 2017 (151)
73 AFFY ss2985197275 Nov 08, 2017 (151)
74 AFFY ss2985817626 Nov 08, 2017 (151)
75 SWEGEN ss2991212392 Nov 08, 2017 (151)
76 ILLUMINA ss3022060080 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3024308049 Nov 08, 2017 (151)
78 TOPMED ss3336048684 Nov 08, 2017 (151)
79 CSHL ss3344699714 Nov 08, 2017 (151)
80 ILLUMINA ss3628266292 Oct 11, 2018 (152)
81 ILLUMINA ss3628266293 Oct 11, 2018 (152)
82 ILLUMINA ss3631688927 Oct 11, 2018 (152)
83 ILLUMINA ss3633231347 Oct 11, 2018 (152)
84 ILLUMINA ss3633944405 Oct 11, 2018 (152)
85 ILLUMINA ss3634807961 Oct 11, 2018 (152)
86 ILLUMINA ss3634807962 Oct 11, 2018 (152)
87 ILLUMINA ss3635629896 Oct 11, 2018 (152)
88 ILLUMINA ss3636497378 Oct 11, 2018 (152)
89 ILLUMINA ss3637381910 Oct 11, 2018 (152)
90 ILLUMINA ss3640515260 Oct 11, 2018 (152)
91 ILLUMINA ss3640515261 Oct 11, 2018 (152)
92 ILLUMINA ss3644766648 Oct 11, 2018 (152)
93 URBANLAB ss3647253310 Oct 11, 2018 (152)
94 ILLUMINA ss3652509613 Oct 11, 2018 (152)
95 ILLUMINA ss3652509614 Oct 11, 2018 (152)
96 ILLUMINA ss3652509615 Oct 11, 2018 (152)
97 ILLUMINA ss3653964782 Oct 11, 2018 (152)
98 EGCUT_WGS ss3659101368 Jul 13, 2019 (153)
99 EVA_DECODE ss3705846350 Jul 13, 2019 (153)
100 ILLUMINA ss3725863833 Jul 13, 2019 (153)
101 ACPOP ss3729292807 Jul 13, 2019 (153)
102 ILLUMINA ss3744485965 Jul 13, 2019 (153)
103 ILLUMINA ss3745107796 Jul 13, 2019 (153)
104 ILLUMINA ss3745107797 Jul 13, 2019 (153)
105 EVA ss3757976605 Jul 13, 2019 (153)
106 PAGE_CC ss3770979123 Jul 13, 2019 (153)
107 ILLUMINA ss3772604332 Jul 13, 2019 (153)
108 ILLUMINA ss3772604333 Jul 13, 2019 (153)
109 PACBIO ss3784128131 Jul 13, 2019 (153)
110 PACBIO ss3789669952 Jul 13, 2019 (153)
111 PACBIO ss3794543118 Jul 13, 2019 (153)
112 KHV_HUMAN_GENOMES ss3802335566 Jul 13, 2019 (153)
113 EVA ss3827459243 Apr 25, 2020 (154)
114 EVA ss3837148932 Apr 25, 2020 (154)
115 EVA ss3842570171 Apr 25, 2020 (154)
116 SGDP_PRJ ss3854408486 Apr 25, 2020 (154)
117 KRGDB ss3900109573 Apr 25, 2020 (154)
118 KOGIC ss3949913350 Apr 25, 2020 (154)
119 1000Genomes NC_000002.11 - 204738919 Oct 11, 2018 (152)
120 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 204738919 Oct 11, 2018 (152)
121 Genome-wide autozygosity in Daghestan NC_000002.10 - 204447164 Apr 25, 2020 (154)
122 Genetic variation in the Estonian population NC_000002.11 - 204738919 Oct 11, 2018 (152)
123 The Danish reference pan genome NC_000002.11 - 204738919 Apr 25, 2020 (154)
124 gnomAD - Genomes NC_000002.11 - 204738919 Jul 13, 2019 (153)
125 Genome of the Netherlands Release 5 NC_000002.11 - 204738919 Apr 25, 2020 (154)
126 HapMap NC_000002.12 - 203874196 Apr 25, 2020 (154)
127 KOREAN population from KRGDB NC_000002.11 - 204738919 Apr 25, 2020 (154)
128 Korean Genome Project NC_000002.12 - 203874196 Apr 25, 2020 (154)
129 Northern Sweden NC_000002.11 - 204738919 Jul 13, 2019 (153)
130 The PAGE Study NC_000002.12 - 203874196 Jul 13, 2019 (153)
131 Qatari NC_000002.11 - 204738919 Apr 25, 2020 (154)
132 SGDP_PRJ NC_000002.11 - 204738919 Apr 25, 2020 (154)
133 Siberian NC_000002.11 - 204738919 Apr 25, 2020 (154)
134 TopMed NC_000002.12 - 203874196 Oct 11, 2018 (152)
135 UK 10K study - Twins NC_000002.11 - 204738919 Oct 11, 2018 (152)
136 A Vietnamese Genetic Variation Database NC_000002.11 - 204738919 Jul 13, 2019 (153)
137 dbGaP Population Frequency Project NC_000002.12 - 203874196 Apr 25, 2020 (154)
138 ClinVar RCV000018429.1 Oct 11, 2018 (152)
139 ClinVar RCV000018430.4 Oct 11, 2018 (152)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs56520936 May 24, 2008 (130)
rs57552006 Feb 26, 2009 (130)
rs57994510 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83655529 NC_000002.9:204564424:G:A NC_000002.12:203874195:G:A (self)
267350, ss110606444, ss165840550, ss201621694, ss205828043, ss253824254, ss276866030, ss292470245, ss480747200, ss1397317537, ss1587317315, ss1712523999, ss2094914916, ss2635100164 NC_000002.10:204447163:G:A NC_000002.12:203874195:G:A (self)
12378058, 6838992, 4839616, 5449613, 33874396, 2999778, 7286967, 2577672, 3153663, 6425466, 1680115, 6838992, 1489219, ss219762014, ss231550392, ss239019961, ss480763079, ss481649285, ss485168379, ss491330048, ss537159729, ss556162565, ss649829304, ss778515281, ss780684157, ss783030400, ss783357588, ss783990103, ss832288016, ss833971594, ss977865114, ss1069868620, ss1301286360, ss1428882722, ss1579284674, ss1605600452, ss1648594485, ss1752334027, ss1752334028, ss1798216445, ss1917758759, ss1921111733, ss1946063985, ss1958496544, ss1969002602, ss2021098287, ss2095108181, ss2095108182, ss2149163761, ss2404846997, ss2633728513, ss2633728514, ss2633728515, ss2703811296, ss2785312496, ss2985197275, ss2985817626, ss2991212392, ss3022060080, ss3344699714, ss3628266292, ss3628266293, ss3631688927, ss3633231347, ss3633944405, ss3634807961, ss3634807962, ss3635629896, ss3636497378, ss3637381910, ss3640515260, ss3640515261, ss3644766648, ss3652509613, ss3652509614, ss3652509615, ss3653964782, ss3659101368, ss3729292807, ss3744485965, ss3745107796, ss3745107797, ss3757976605, ss3772604332, ss3772604333, ss3784128131, ss3789669952, ss3794543118, ss3827459243, ss3837148932, ss3854408486, ss3900109573 NC_000002.11:204738918:G:A NC_000002.12:203874195:G:A (self)
RCV000018429.1, RCV000018430.4, 1992506, 6291351, 200592, 215537588, 657168850, ss2238400825, ss3024308049, ss3336048684, ss3647253310, ss3705846350, ss3725863833, ss3770979123, ss3802335566, ss3842570171, ss3949913350 NC_000002.12:203874195:G:A NC_000002.12:203874195:G:A (self)
ss4318740, ss16343657, ss44315036, ss48293461, ss66079983, ss76019754, ss81930522, ss97114049, ss103661233, ss120254415, ss139927002, ss160608721, ss170499862, ss244293534, ss410928037 NT_005403.17:54948336:G:A NC_000002.12:203874195:G:A (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

185 citations for rs3087243
PMID Title Author Year Journal
15452244 Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection. Thio CL et al. 2004 Journal of virology
16380915 Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Plenge RM et al. 2005 American journal of human genetics
17209142 Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes. Payne F et al. 2007 Journal of leukocyte biology
17334650 A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene. Howson JM et al. 2007 Diabetologia
17554260 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Todd JA et al. 2007 Nature genetics
17606874 Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Bailey R et al. 2007 Diabetes
17666451 Associations between human leukocyte antigen, PTPN22, CTLA4 genotypes and rheumatoid arthritis phenotypes of autoantibody status, age at diagnosis and erosions in a large cohort study. Karlson EW et al. 2008 Annals of the rheumatic diseases
17825114 Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population. Wang L et al. 2007 BMC cancer
17940599 Assembly of inflammation-related genes for pathway-focused genetic analysis. Loza MJ et al. 2007 PloS one
18000051 Allelic variant in CTLA4 alters T cell phosphorylation patterns. Maier LM et al. 2007 Proceedings of the National Academy of Sciences of the United States of America
18200060 PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. LaBerge GS et al. 2008 The Journal of investigative dermatology
18252225 On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Luca D et al. 2008 American journal of human genetics
18456185 Genetics and genomics of primary biliary cirrhosis. Juran BD et al. 2008 Clinics in liver disease
18462498 Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking. Costenbader KH et al. 2008 Arthritis research & therapy
18466531 Case-control association analysis of rheumatoid arthritis with candidate genes using related cases. Yoo YJ et al. 2007 BMC proceedings
18528295 Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in treatment of melanoma patients with CTLA-4 blockade. Breunis WB et al. 2008 Journal of immunotherapy (Hagerstown, Md.
18556337 Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). Butty V et al. 2008 Diabetes
18576317 Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis. Prahalad S et al. 2008 Arthritis and rheumatism
18773895 The genetic basis of primary biliary cirrhosis: premises, not promises. Invernizzi P et al. 2008 Gastroenterology
18776148 Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Huber A et al. 2008 Endocrine reviews
18778710 Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. Juran BD et al. 2008 Gastroenterology
18794853 Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Raychaudhuri S et al. 2008 Nature genetics
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
18853133 Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Rafiq S et al. 2008 Diabetologia
18940880 Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese. Awata T et al. 2009 The Journal of clinical endocrinology and metabolism
19014504 Lack of association between sCTLA-4 levels in human plasma and common CTLA-4 polymorphisms. Berry A et al. 2008 Journal of negative results in biomedicine
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
19141582 Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. Villano MJ et al. 2009 The Journal of clinical endocrinology and metabolism
19147066 Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality. Hansen JA et al. 2009 Biology of blood and marrow transplantation
19175525 CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Birlea SA et al. 2009 Pigment cell & melanoma research
19300490 An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans. Kelley JM et al. 2009 PLoS genetics
19359276 Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Barton A et al. 2009 Human molecular genetics
19404967 Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis. Daha NA et al. 2009 Arthritis and rheumatism
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC et al. 2009 Nature genetics
19506323 The onset of diabetes in three out of four sisters: a Japanese family with type 1 diabetes. A case report. Kishi A et al. 2009 Endocrine journal
19609446 CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population. Thye T et al. 2009 PloS one
19622768 CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer. Welsh MM et al. 2009 Cancer research
19672595 Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis? Bouwhuis MG et al. 2010 Cancer immunology, immunotherapy
19740340 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease. Karabon L et al. 2009 Immunology
19895365 Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma. Berce V et al. 2010 Biomarkers
19898481 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Raychaudhuri S et al. 2009 Nature genetics
19951419 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. Carr EJ et al. 2009 BMC medical genetics
19956097 Remapping the type I diabetes association of the CTLA4 locus. Qu HQ et al. 2009 Genes and immunity
19956101 Overview of the Rapid Response data. Brown WM et al. 2009 Genes and immunity
19956106 Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. Howson JM et al. 2009 Genes and immunity
20072139 Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. Hinks A et al. 2010 Genes and immunity
20075733 Recent advances in the genetics of rheumatoid arthritis. Raychaudhuri S et al. 2010 Current opinion in rheumatology
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Pierce BL et al. 2010 Human heredity
20219786 The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register. Plant D et al. 2011 Rheumatology (Oxford, England)
20233754 Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. Karlson EW et al. 2010 Annals of the rheumatic diseases
20236493 The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis. Willcocks LC et al. 2010 Arthritis research & therapy
20300120 HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. Takahashi M et al. 2010 Journal of human genetics
20309874 Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. Cui J et al. 2010 Arthritis and rheumatism
20352109 Association of the CTLA4 gene with Graves' disease in the Chinese Han population. Zhao SX et al. 2010 PloS one
20439292 Genetic variants in the prediction of rheumatoid arthritis. van der Helm-van Mil AH et al. 2010 Annals of the rheumatic diseases
20444755 Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. Tan RJ et al. 2010 Annals of the rheumatic diseases
20453842 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Stahl EA et al. 2010 Nature genetics
20461788 Association of a rheumatoid arthritis susceptibility variant at the CCL21 locus with premature mortality in inflammatory polyarthritis patients. Farragher TM et al. 2010 Arthritis care & research
20491567 CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms. Repnik K et al. 2010 DNA and cell biology
20498205 Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. Plant D et al. 2010 Annals of the rheumatic diseases
20510233 Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis. Plenge RM et al. 2010 Rheumatic diseases clinics of North America
20537165 The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. Hradsky O et al. 2010 BMC medical genetics
20557968 Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients. Joshita S et al. 2010 Journal of hepatology
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20610662 Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians. Benmansour J et al. 2010 Clinical and vaccine immunology
20638243 Update on the genetics and genomics of PBC. Juran BD et al. 2010 Journal of autoimmunity
20722033 The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Thompson SD et al. 2010 Arthritis and rheumatism
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20805278 Latent autoimmune diabetes in adults differs genetically from classical type 1 diabetes diagnosed after the age of 35 years. Andersen MK et al. 2010 Diabetes care
20825955 Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity. Moriguchi M et al. 2011 Metabolism
20827186 Defining genetic risk for graft-versus-host disease and mortality following allogeneic hematopoietic stem cell transplantation. Hansen JA et al. 2010 Current opinion in hematology
20885991 Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. Carey C et al. 2010 Expert opinion on medical diagnostics
20933377 Recent findings on genetics of systemic autoimmune diseases. Delgado-Vega A et al. 2010 Current opinion in immunology
21040781 CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population. Liu J et al. 2011 Brain, behavior, and immunity
21085187 Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. Birlea SA et al. 2011 The Journal of investigative dermatology
21090563 Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma. Berman D et al. 2010 Cancer immunity
21107304 Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation. Jacobson PA et al. 2011 Transplantation
21120996 Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans. Hughes LB et al. 2010 Arthritis and rheumatism
21121051 The reference human genome demonstrates high risk of type 1 diabetes and other disorders. Chen R et al. 2011 Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
21156761 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. Padyukov L et al. 2011 Annals of the rheumatic diseases
21211616 Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. Kurreeman F et al. 2011 American journal of human genetics
21383967 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. Zhernakova A et al. 2011 PLoS genetics
21669243 CTLA-4, CD28, and ICOS gene polymorphism associations with non-small-cell lung cancer. Karabon L et al. 2011 Human immunology
21744007 Variations in suppressor molecule ctla-4 gene are related to susceptibility to multiple myeloma in a polish population. Karabon L et al. 2012 Pathology oncology research
21829393 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. Plagnol V et al. 2011 PLoS genetics
21852963 Pervasive sharing of genetic effects in autoimmune disease. Cotsapas C et al. 2011 PLoS genetics
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
21931699 Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. Chibnik LB et al. 2011 PloS one
21963258 Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. Hu X et al. 2011 American journal of human genetics
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
21980439 A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. Nakaoka H et al. 2011 PloS one
21981779 Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Denny JC et al. 2011 American journal of human genetics
22123319 A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma. Hamid O et al. 2011 Journal of translational medicine
22174698 A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. Ramos PS et al. 2011 PLoS genetics
22328738 Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. Bowes J et al. 2012 Annals of the rheumatic diseases
22346247 Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. Naser SA et al. 2012 World journal of gastroenterology
22414241 Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: a systematic review. Li M et al. 2012 Journal of gastroenterology and hepatology
22418270 Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients. Gao JW et al. 2012 Transplant immunology
22479352 The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. Urbanek M et al. 2012 PloS one
22508400 Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Chung SA et al. 2012 Arthritis and rheumatism
22511809 Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study. Andersen MK et al. 2012 European journal of endocrinology
22654555 The genetic basis of graves' disease. Płoski R et al. 2011 Current genomics
22661644 Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Viatte S et al. 2012 Annals of the rheumatic diseases
22811616 Association of CTLA4 gene polymorphisms with susceptibility and pathology correlation to pulmonary tuberculosis in Southern Han Chinese. Wang C et al. 2012 International journal of biological sciences
22891215 Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes. Howson JM et al. 2012 Diabetes
23121884 Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease. Viatte S et al. 2012 Arthritis research & therapy
23226040 Pharmacogenetics of rheumatoid arthritis: Potential targets from susceptibility genes and present therapies. O'Rielly DD et al. 2010 Pharmacogenomics and personalized medicine
23251581 Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades. Jiang Y et al. 2012 PloS one
23300559 Polymorphisms in CTLA4 influence incidence of drug-induced liver injury after renal transplantation in Chinese recipients. Guo Y et al. 2012 PloS one
23432218 Association between cytotoxic T-lymphocyte antigen 4 gene polymorphisms and primary biliary cirrhosis in Chinese population: data from a multicenter study. Li Q et al. 2013 Journal of gastroenterology and hepatology
23480667 Cytotoxic T-lymphocyte antigen-4 genetic variants and risk of Ewing's sarcoma. Feng D et al. 2013 Genetic testing and molecular biomarkers
23567921 Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population. Megiorni F et al. 2013 Archives of dermatological research
23703660 The -319C/+49G/CT60G haplotype of CTLA-4 gene confers susceptibility to rheumatoid arthritis in Mexican population. Torres-Carrillo N et al. 2013 Cell biochemistry and biophysics
23911738 Expression of B7 and CD28 family genes in newly diagnosed type 1 diabetes. Pruul K et al. 2013 Human immunology
24068971 Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking. Scott IC et al. 2013 PLoS genetics
24069534 Genetics of psoriasis and pharmacogenetics of biological drugs. Prieto-Pérez R et al. 2013 Autoimmune diseases
24270470 Influence of cytotoxic T lymphocyte-associated antigen 4 polymorphisms on the outcomes of hepatitis B virus infection. Chen M et al. 2014 Molecular medicine reports
24449572 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. Orozco G et al. 2014 Arthritis & rheumatology (Hoboken, N.J.)
25003519 CTLA4 variants and haplotype contribute genetic susceptibility to myasthenia gravis in northern Chinese population. Sun L et al. 2014 PloS one
25042601 Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families. Rodríguez A et al. 2015 Journal of diabetes
25326706 Genetic polymorphisms and risk of recurrent wheezing in pediatric age. Esposito S et al. 2014 BMC pulmonary medicine
25356901 Cytotoxic T-lymphocyte antigen 4 gene polymorphism influences the incidence of symptomatic human cytomegalovirus infection after renal transplantation. Misra MK et al. 2015 Pharmacogenetics and genomics
25383768 High levels of soluble CTLA-4 are present in anti-mitochondrial antibody positive, but not in antibody negative patients with primary biliary cirrhosis. Saverino D et al. 2014 PloS one
25604582 Association between co-inhibitory molecule gene tagging single nucleotide polymorphisms and the risk of colorectal cancer in Chinese. Ge J et al. 2015 Journal of cancer research and clinical oncology
25652333 Genetics of serum concentration of IL-6 and TNFα in systemic lupus erythematosus and rheumatoid arthritis: a candidate gene analysis. Solus JF et al. 2015 Clinical rheumatology
25940108 A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibility to acute graft versus host disease after allogeneic hematopoietic stem cell transplantation. Karabon L et al. 2015 Immunogenetics
25964488 GIMAP GTPase family genes: potential modifiers in autoimmune diabetes, asthma, and allergy. Heinonen MT et al. 2015 Journal of immunology (Baltimore, Md.
25980680 Differences in B7 and CD28 family gene expression in the peripheral blood between newly diagnosed young-onset and adult-onset type 1 diabetes patients. Pruul K et al. 2015 Molecular and cellular endocrinology
26079279 HCV F protein amplifies the predictions of IL-28B and CTLA-4 polymorphisms about the susceptibility and outcomes of HCV infection in Southeast China. Xiao W et al. 2015 Infection, genetics and evolution
26124183 Impact of genetic polymorphisms on paediatric atopic dermatitis. Esposito S et al. 2015 International journal of immunopathology and pharmacology
26194362 Paradoxical psoriasiform reactions to anti-TNFα drugs are associated with genetic polymorphisms in patients with psoriasis. Cabaleiro T et al. 2016 The pharmacogenomics journal
26379408 CTLA-4 and MDR1 polymorphisms increase the risk for ulcerative colitis: A meta-analysis. Zhao JJ et al. 2015 World journal of gastroenterology
26403483 CTLA-4 and CD28 genes' polymorphisms and renal cell carcinoma susceptibility in the Polish population--a prospective study. Tupikowski K et al. 2015 Tissue antigens
26405069 ATPase4A Autoreactivity and Its Association With Autoimmune Phenotypes in the Type 1 Diabetes Genetics Consortium Study. Wenzlau JM et al. 2015 Diabetes care
26405547 Association of the <i>CTLA4</i> gene CT60/rs3087243 single-nucleotide polymorphisms with Graves' disease. Fang W et al. 2015 Biomedical reports
26709093 Investigation of Cytotoxic T-lymphocyte antigen 4 Polymorphisms in Gastric Cardia Adenocarcinoma. Tang W et al. 2016 Scandinavian journal of immunology
26843965 Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. Saad MN et al. 2016 Journal of advanced research
26904692 Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control. Brorsson CA et al. 2016 Journal of diabetes research
27014188 Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin. Lombardi A et al. 2016 Frontiers in endocrinology
27081086 Effect of CTLA-4 gene polymorphisms on long-term kidney allograft function in Han Chinese recipients. Guo Y et al. 2016 Oncotarget
27092776 A Combination of CD28 (rs1980422) and IRF5 (rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study. Vernerova L et al. 2016 PloS one
27111218 Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study. Ting WH et al. 2016 PloS one
27118383 CTLA-4 polymorphisms and haplotype correlate with survival in ALL after allogeneic stem cell transplantation from related HLA-haplotype-mismatched donor. Qin XY et al. 2016 Journal of translational medicine
27331016 ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese. Sun C et al. 2016 Meta gene
27351445 Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages. Misra MK et al. 2016 Fertility and sterility
27400406 Association study involving polymorphisms in IL-6, IL-1RA, and CTLA4 genes and rheumatic heart disease in New Zealand population of Māori and Pacific ancestry. Azevedo PM et al. 2016 Cytokine
27417569 Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. Bek S et al. 2016 Alimentary pharmacology & therapeutics
27498821 Lack of association between cytotoxic T-lymphocyte antigen-4 gene polymorphisms and lymphoid malignancy risk: evidence from a meta-analysis. Dai Z et al. 2016 Annals of hematology
27638540 CD28/CTLA-4/ICOS haplotypes confers susceptibility to Graves' disease and modulates clinical phenotype of disease. Pawlak-Adamska E et al. 2017 Endocrine
27716086 Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden. Holmberg D et al. 2016 BMC medical genetics
27888068 Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population. Ke X et al. 2017 Human immunology
27988812 CD28, CTLA-4 and CCL5 gene polymorphisms in patients with rheumatoid arthritis. Luterek-Puszyńska K et al. 2017 Clinical rheumatology
28097051 CTLA-4 polymorphisms associate with breast cancer susceptibility in Asians: a meta-analysis. Dai Z et al. 2017 PeerJ
28520980 Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes? Steck AK et al. 2017 The Journal of clinical endocrinology and metabolism
28642883 Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis. Yang XC et al. 2017 Journal of immunology research
28922436 Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis. Kuś A et al. 2017 Journal of gastrointestinal and liver diseases
29100337 Investigation of <i>Cytotoxic T-lymphocyte antigen-4</i> polymorphisms in non-small cell lung cancer: a case-control study. Chen S et al. 2017 Oncotarget
29147453 CTLA-4 Genetic Variants (rs11571317 and rs3087243): Role in Susceptibility and Progression of Breast Cancer. Goske M et al. 2017 World journal of oncology
29147678 A Haplotype Associated with Enhanced Mineralocorticoid Receptor Expression Facilitates the Stress-Induced Shift from "Cognitive" to "Habit" Learning. Wirz L et al. 2017 eNeuro
29264740 CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens. Qin XY et al. 2018 Annals of hematology
29299173 Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses. Tu Y et al. 2017 Oncotarget
29335768 CTLA-4 polymorphisms: influence on transplant-related mortality and survival in children undergoing allogeneic hematopoietic stem cell transplantation. Hammrich J et al. 2018 Journal of cancer research and clinical oncology
29409002 PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity. Houcken J et al. 2018 The Journal of clinical endocrinology and metabolism
29476189 The synergic effects of CTLA-4/Foxp3-related genotypes and chromosomal aberrations on the risk of recurrent spontaneous abortion among a Chinese Han population. Fan Q et al. 2018 Journal of human genetics
29675891 Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study. Dahmani CA et al. 2018 International journal of immunogenetics
29794444 Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies. Fang M et al. 2018 Cellular physiology and biochemistry
29979892 Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata. Moravvej H et al. 2018 Immunological investigations
30009380 Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis. Li F et al. 2018 Annals of human genetics
30223781 Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population. Chen X et al. 2018 BMC medical genetics
30319055 Association of cytotoxic T-lymphocyte antigen 4 gene with immune thrombocytopenia in Chinese Han children. Yao L et al. 2019 Hematology (Amsterdam, Netherlands)
30634576 CTLA-4 Genetic Variants Predict Survival in Patients with Sepsis. Mewes C et al. 2019 Journal of clinical medicine
30701793 Association between polymorphic markers in candidate genes and the risk of manifestationof endocrine ophthalmopathy in patients with Graves' disease. Petunina NA et al. 2018 Terapevticheskii arkhiv
30888206 Lack of Association Between CTLA-4 Genetic Polymorphisms and Noncardiac Gastric Cancer in a Chinese Population. Liu J et al. 2019 DNA and cell biology
30921471 Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese. Li F et al. 2019 Clinical and experimental immunology
31335675 Association of CTLA-4 tagging polymorphisms and haplotypes with hepatocellular carcinoma risk: A case-control study. Yang J et al. 2019 Medicine
31402427 Germinal Immunogenetics predict treatment outcome for PD-1/PD-L1 checkpoint inhibitors. Refae S et al. 2020 Investigational new drugs
31473094 Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort. Cai GM et al. 2019 Journal of clinical neuroscience
31475028 Host Genetic Determinants of Hepatitis B Virus Infection. Zhang Z et al. 2019 Frontiers in genetics
31620907 PDCD1 and PDCD1LG1 polymorphisms affect the susceptibility to multiple myeloma. Kasamatsu T et al. 2020 Clinical and experimental medicine
31698031 Associations of genetic polymorphisms in CTLA-4 and IL-18 with chronic liver diseases: Evidence from a meta-analysis. Zhang S et al. 2020 Genomics
31808541 Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. Valta M et al. 2020 European journal of immunology
31845023 Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis. Dimberg J et al. 2020 International journal of colorectal disease
31868208 Associations of polymorphisms in CTLA-4 and IL-18 with liver diseases: evidence from a meta-analysis. Zhang S et al. 2019 Bioscience reports
31933538 Reduced GLP-1 response to a meal is associated with the <i>CTLA4</i> rs3087243 <i>G/G</i> genotype. Zóka A et al. 2019 Central-European journal of immunology
32178688 CTLA-4 polymorphisms and predisposition to digestive system malignancies: a meta-analysis of 31 published studies. Li J et al. 2020 World journal of surgical oncology

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