NM_000572.3(IL10):c.-627A>C AND Human immunodeficiency virus type 1, susceptibility to

Clinical significance:risk factor (Last evaluated: Dec 4, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018369.4

Allele description [Variation Report for NM_000572.3(IL10):c.-627A>C]

NM_000572.3(IL10):c.-627A>C

Gene:
IL10:interleukin 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_000572.3(IL10):c.-627A>C
HGVS:
  • NC_000001.11:g.206773062T>G
  • NG_012088.1:g.4433A>C
  • NM_000572.3:c.-627A>C
  • LRG_1230t1:c.-627A>C
  • LRG_1230:g.4433A>C
  • NC_000001.10:g.206946407T>G
Note:
NCBI staff determined the HGVS expression for this allele from the sequence of the allele-specific oligonucleotide in the paper by Shin et al., 2000 (PubMed 11121048).
Nucleotide change:
-592C-A
Links:
OMIM: 124092.0001; dbSNP: rs1800872
NCBI 1000 Genomes Browser:
rs1800872

Condition(s)

Name:
Human immunodeficiency virus type 1, susceptibility to
Synonyms:
HIV-1, SUSCEPTIBILITY TO; HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
Identifiers:
MedGen: C1836230; OMIM: 609423

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038650OMIMno assertion criteria providedrisk factor
(Dec 4, 2003)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.

Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW.

Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14467-72.

PubMed [citation]
PMID:
11121048
PMCID:
PMC18942

Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation.

Lin MT, Storer B, Martin PJ, Tseng LH, Gooley T, Chen PJ, Hansen JA.

N Engl J Med. 2003 Dec 4;349(23):2201-10.

PubMed [citation]
PMID:
14657427
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000038650.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Shin et al. (2000) reported an increased susceptibility to HIV-1 infection (609423) and more rapid progression to AIDS in patients with a C-to-A polymorphism at position -592 of the IL10 promoter. The -592A allele reduces IL10 transcription by a factor of 2 to 4. The authors found that -592A allele-specific synthetic oligonucleotides did not bind certain ETS family transcription factors, which recognize the wildtype IL10 allele sequence. Heterozygosity and homozygosity with respect to the -592A allele was associated with accelerated AIDS progression, probably owing to downregulation of the inhibitory IL10 cytokine.

In 993 transplant recipients, Lin et al. (2003) found that the IL10 -592A/A genotype, as compared with the C/C genotype, was associated with a decreased risk of acute graft-versus-host disease (GVHD; 614395) and death in remission. A haplotype analysis showed that the -592A allele was a specific marker for a promoter haplotype, T-C-A-T-A, defined by 5 polymorphisms at positions -3575, -2763, -1082, -819, and -592, respectively. Among recipients of hematopoietic cells from an HLA-identical sib, the -592A allele was shown to be a marker of a favorable outcome after transplantation. Cooke and Ferrara (2003) commented on the usefulness of information on IL10 genotype in clinical practice.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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