rs12243326

This is a regulatory region variant variant in the TCF7L2 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

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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