rs7895340

This is a intron variant variant in the TCF7L2 gene.

Research that mentions this SNP (4)

TCF7L2 genetic variants and progression to diabetes in the Chinese population: pleiotropic effects on insulin secretion and insulin resistance
AssociationN=1,094Chang YC et al.(2010)· Journal of Molecular Medicine

This prospective family-based cohort study examined TCF7L2 genetic variants in 1,094 Han Chinese subjects and found pleiotropic effects on diabetes progression. Variants in the exon 4 LD block (rs7903146, rs7079711, rs4506565, rs7895340) were associated with impaired insulin secretion and increased diabetes risk (hazard ratio = 2.61, p = 0.009), while 3' end variants (rs290481, rs290487) were associated with insulin resistance markers but not diabetes progression. TCF7L2 expression was inversely correlated with insulin resistance in human adipose tissue.

Traits studied:2-hour post-challenge glucose2-hour post-challenge insulinBMIDiastolic blood pressureFasting glucoseFasting insulinHDL cholesterolHOMA-IRImpaired fasting glucoseImpaired glucose toleranceInsulin resistanceInsulin secretionSteady-state plasma glucose (SSPG)Systolic blood pressureTriglyceridesType 2 diabetesWaist circumferenceWaist-hip ratio
TCF7L2 single nucleotide polymorphisms, cardiovascular disease and all-cause mortality: the Atherosclerosis Risk in Communities (ARIC) study
AssociationN=13,369Bielinski SJ et al.(2008)· Diabetologia

This study examined whether TCF7L2 SNPs (rs7903146, rs12255372, rs7901695, rs11196205, rs7895340) are associated with cardiovascular disease (CVD) and mortality in the ARIC cohort of 13,369 participants. The T-allele of rs7903146 was not significantly associated with incident coronary heart disease, ischemic stroke, CVD, or all-cause mortality in the full cohort or when stratified by race. A weak association with incident CHD was observed in whites with prevalent diabetes (HR = 1.21, p = 0.04) but not in blacks, suggesting TCF7L2's increased health risk is specific to diabetes rather than general cardiovascular disease.

Traits studied:All-cause mortalityCardiovascular diseaseCoronary heart diseaseIschemic strokePeripheral artery diseaseType 2 diabetes
A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population
AssociationN=1,997Horikoshi M. et al.(2007)· Diabetologia

This study investigated whether TCF7L2 gene variants associated with type 2 diabetes in European populations also confer risk in Japanese populations. The SNP rs7903146 showed significant association with type 2 diabetes in combined Japanese samples (n=1,997; OR=1.69, 95% CI 1.21–2.36, p=0.002), demonstrating that TCF7L2 is a common type 2 diabetes susceptibility gene across ethnic groups.

Traits studied:Type 2 diabetes
Impaired glucagon-like peptide-1-induced insulin secretion in carriers of transcription factor 7-like 2 (TCF7L2) gene polymorphisms
AssociationN=1,110Schäfer SA et al.(2007)· Diabetologia

This association study of 1,110 non-diabetic participants examined TCF7L2 gene polymorphisms (rs7903146, rs12255372, rs7901695) and found that risk allele carriers have specifically impaired GLP-1-induced insulin secretion (p<0.02 for rs7903146 and rs12255372), consistent with a defect in the GLP-1 signaling pathway in pancreatic beta cells rather than reduced GLP-1 secretion. This functional deficit provides a mechanistic explanation for the increased type 2 diabetes risk conferred by these variants.

Traits studied:GLP-1-induced insulin secretionGlucose toleranceInsulin secretionType 2 diabetes

About TCF7L2

This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

View all TCF7L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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