NM_030756.4(TCF7L2):c.483+9017G>T AND Diabetes mellitus type 2

Clinical significance:risk factor (Last evaluated: Jan 1, 2008)

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:
RCV000007839.2

Allele description [Variation Report for NM_030756.4(TCF7L2):c.483+9017G>T]

NM_030756.4(TCF7L2):c.483+9017G>T

Gene:
TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.2
Genomic location:
Preferred name:
NM_030756.4(TCF7L2):c.483+9017G>T
HGVS:
  • NC_000010.11:g.113049143G>T
  • NG_012631.1:g.103894G>T
  • NM_030756.4:c.483+9017G>T
  • NC_000010.10:g.114808902G>T
Nucleotide change:
IVS4, G-T (rs12255372)
Links:
OMIM: 602228.0002; dbSNP: rs12255372
NCBI 1000 Genomes Browser:
rs12255372
Molecular consequence:
  • NM_030756.4:c.483+9017G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Diabetes mellitus type 2 (NIDDM)
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; NIDDM diabetes mellitus; See all synonyms [MedGen]
Identifiers:
MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028044OMIMno assertion criteria providedrisk factor
(Jan 1, 2008)
germlineliterature only

PubMed (4)
[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

Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.

Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, Helgason A, Stefansson H, Emilsson V, Helgadottir A, Styrkarsdottir U, Magnusson KP, Walters GB, Palsdottir E, Jonsdottir T, Gudmundsdottir T, Gylfason A, Saemundsdottir J, Wilensky RL, Reilly MP, Rader DJ, Bagger Y, et al.

Nat Genet. 2006 Mar;38(3):320-3. Epub 2006 Jan 15.

PubMed [citation]
PMID:
16415884

Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City.

Parra EJ, Cameron E, Simmonds L, Valladares A, McKeigue P, Shriver M, Wacher N, Kumate J, Kittles R, Cruz M.

Clin Genet. 2007 Apr;71(4):359-66.

PubMed [citation]
PMID:
17470138
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000028044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In an Icelandic population, Grant et al. (2006) found strong linkage disequilibrium between a SNP in intron 4 of the TCF7L2 gene, rs12255372, and a microsatellite marker in intron 3, DG10S478, associated with type 2 diabetes (125853) (p = 2.1 x 10(-9)).

Using a logistic regression model incorporating individual ancestry, sex, age, body mass index, and education in 286 Mexican patients with type 2 diabetes mellitus and 275 controls, Parra et al. (2007) analyzed the DG10S478 microsatellite in intron 3 and rs12255372 in intron 4 of the TCF7L2 gene. All 3 markers were in tight disequilibrium in the Mexican sample. Parra et al. (2007) observed a significant association between rs12255372 and DG10S478 and type 2 diabetes mellitus (OR = 1.78, p = 0.017, and OR = 1.62, p = 0.041, respectively).

Mayans et al. (2007) genotyped 4 SNPs in the TCF7L2 gene in 872 Swedish patients with type 2 diabetes and 857 age-, sex-, and geographically-matched controls and replicated the previously identified association between rs12255372 and disease (p = 0.000004).

Miyake et al. (2008) analyzed 5 SNPs in the TCF7L2 gene in 2,214 Japanese individuals with type 2 diabetes and 1,873 controls and confirmed significant association with the minor allele of rs12255372 (OR, 1.70; p = 9.8 x 10(-5)). The association remained significant after adjustment for age, sex, and BMI (adjusted p = 7.0 x 10(-4)).

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

Last Updated: Mar 30, 2019

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