Rs12255372

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Associated with T2D, breast and prostate cancers.
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SNP Nexus

SNPshotrs12255372
SNPdbers12255372
MSV3drs12255372
GeneTCF7L2
Chromosome10
Orientationplus
Position114808902
ReferenceGRCh37 37.1/131
Max Magnitude3.5
Geno Mag Summary
(G;G) 0
(G;T) 2 1.3x increased type-2 diabetes risk
(T;T) 3.5 increased breast cancer, type-2 diabetes, and aggressive prostate cancer risk
? (G;G) (G;T) (T;T) 28
This SNP is in the TCF7L2 gene, and has been linked to type-2 diabetes, breast cancer and aggressive prostate cancer. This SNP is also known as IVS4G>T.

[PMID 17109766] is the paper which links it to Breast cancer. It suggests the T allele as increasing risk.

[PMID 16936217] reports the association of rs12255372 and rs7903146 with Type-2 diabetes in a Finnish sample.

rs12255372 Common variants (rs12255372 and rs7903146) in TCF7L2 seem to be associated with an increased risk of diabetes among persons with impaired glucose tolerance

[PMID 17671651] Considered for type-2 diabetes with rs7903146 rs12255372 rs10885406.

[PMID 17971425] Associated in a study of ~1000 Hispanic-Americans with reduced insulin secretion as measured by acute insulin response and adjusted for the degree of insulin sensitivity (p = 0.036).

[PMID 18302196] In a study of 1,457 prostate cancer cases and 1,351 controls, while there was no association with overall risk, males who were rs12255372(T;T) homozygotes and who had prostate cancer were at elevated relative risk of more aggressive prostate cancer, as defined by high Gleason score (OR = 1.7, CI: 1.0-2.8) or regional/distant stage (OR = 1.7, CI: 1.1-2.6) disease.

[PMID 19033397] This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).

A HuGE review and meta-analysis including over 35,000 type-2 diabetes cases and 39,000 controls concluded that the Bayesian odds ratio for rs12255372(T;T) homozygotes and (G;T) heterozygotes versus (G;G) homozygotes was 1.885 (95% credible interval (CrI): 1.698 - 2.088) and 1.360 (95% CrI: 1.291 - 1.433), respectively. Along with 3 other TCF7L2 SNPs, a multiplicative genetic model was indicated.[PMID 19228405]


[PMID 18972257] Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study


[PMID 19183934] TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study

OMIM602228
DescTRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2
Variant
Relatedalso

[PMID 19732438] No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer

PharmGKBPA161660934
Name
AnnotationThe variant in the intronic region of TCF7L2 was found to substantially contribute to the risk of type 2 diabetes. The TCF7L2 variant influences therapeutic response to sulfonylureas but not metformin.
GeneTCF7L2
Featue
EvidencePubMed ID:17519421
Drugs
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated

[PMID 20028944] Gene variants of TCF7L2 influence weight loss and body composition during lifestyle intervention in a risk population for type 2 diabetes


[PMID 20361036] Gene-gene interactions lead to higher risk for development of type 2 diabetes in an ashkenazi jewish population

[PMID 20503258] Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City

[PMID 20546291] Association of TCF7L2 gene variants with low GAD autoantibody titre in LADA subjects (NIRAD Study 5)


[PMID 21301999] Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association of TCF7L2 rs12255372(G/T) or rs7903146(C/T) with breast cancer risk and clinico-pathological parameters

OMIM602228
Desc
Variant0002
Relatedalso


[PMID 21109996] Association testing of TCF7L2 polymorphisms with type 2 diabetes in multi-ethnic youth


[PMID 22052079] Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs


[PMID 22402060] Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes


[PMID 22441719] Stronger Association of Common Variants in TCF7L2 Gene with Nonobese Type 2 Diabetes in the Latvian Population


[PMID 17437080] Variants of transcription factor 7-like 2 (TCF7L2) gene predict conversion to type 2 diabetes in the Finnish Diabetes Prevention Study and are associated with impaired glucose regulation and impaired insulin secretion

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