|(A;T)||1.5||1.4x increased risk for type-2 diabetes|
|(T;T)||2||1.9x increased risk for type-2 diabetes|
The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 1.36 (CI 1.2-1.54), and for homozygotes, 1.88 (CI 1.56-2.27). [PMID 17554300]
Note: this is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs7903146. They have approximately equal power to estimate risk for type-2 diabetes, and the results from one correlate 92% of the time with the other. [PMID 17554300][PMID 20018066] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study
|Trait||Fasting glucose-related traits|
|Title||New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk|
|Odds Ratio||None None|
[PMID 20597906] A Validation Study of Type 2 Diabetes-related Variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ Genes in one Endogamous Ethnic Group of North India
[PMID 22402060] Functional analysis of TCF7L2 genetic variants associated with type 2 diabetes
[PMID 16936215] Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk.
[PMID 17093941] Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population.
[PMID 17934151] A variant of the transcription factor 7-like 2 (TCF7L2) gene and the risk of posttransplantation diabetes mellitus in renal allograft recipients.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18655717] Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.
[PMID 19053027] Loci of TCF7L2, HHEX and IDE on chromosome 10q and the susceptibility of their genetic polymorphisms to type 2 diabetes.
[PMID 19161620] An open access database of genome-wide association results.
[PMID 19252133] Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.
[PMID 19351735] Evidence for association between polycystic ovary syndrome (PCOS) and TCF7L2 and glucose intolerance in women with PCOS and TCF7L2.
[PMID 19913122] ATRIUM: testing untyped SNPs in case-control association studies with related individuals.
[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
[PMID 22583123] Association of TCF7L2 and ADIPOQ with Body Mass Index, Waist-Hip Ratio, and Systolic Blood Pressure in an Endogamous Ethnic Group of India.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23188737] TCF7L2 gene polymorphisms and type 2 diabetes risk: a comprehensive and updated meta-analysis involving 121,174 subjects
[PMID 24128935] Impact of TCF7L2 single nucleotide polymorphisms on hydrochlorothiazide-induced diabetes
[PMID 24157263] Polymorphisms of Transcription Factor-7-Like 2 (TCF7L2) gene in Tunisian women with polycystic ovaries syndrome (PCOS)
[PMID 23107111] Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Lebanese subjects.
[PMID 23142382] Transcription factor-7-like 2 gene variants are strongly associated with type 2 diabetes in Tunisian Arab subjects.
[PMID 27383215] Type 2 Diabetes Risk Allele Loci in the Qatari Population.