rs7924080
This variant is located in the TCF7L2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart StudyAssociationN=2,512Stolerman ES et al.(2009)· Diabetologia
This study examined TCF7L2 variants in 2,512 Framingham Heart Study participants and confirmed that rs7903146 T risk allele associates with increased fasting plasma glucose (p=0.01) and a 23.5% higher proinsulin/insulin ratio (p=1×10⁻⁷) compared to C/C homozygotes, supporting the hypothesis of impaired beta cell insulin processing. However, the authors found no association between TCF7L2 haplotype A and obesity measures (BMI p=0.98), suggesting previous positive associations were likely due to ascertainment bias.
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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