• PMID: 22480428
• Gene Name: TCF7L2
• Condition: PCOS
• Association: Associated
• Mutation: TCF7L2 (rs4506565, rs7903146, rs12243326, rs12255372)
• Population size: 478
• Population details: 478 (242 women with PCOS, 236 control women)
• Sex: Female
• Infertility type: Femal infertility
• Other associated phenotypes: PCOS

T2D risk haplotypes of the TCF7L2 gene in the Czech population sample: the association with free fatty acids composition

V?el�k J, Vejra�kov� D, Va?kov� M, Luk�ov� P, Bradnov� O, H�lkov� T, Be�?�k J, And?lov� K, Kvasni?kov� H, Hoskovcov� P, Vondra K, Vrb�kov� J, Bendlov� B.

The association of transcription factor 7-like 2 (TCF7L2) gene variants with the pathogenesis of T2D, gestational diabetes and polycystic ovary syndrome (PCOS) was examined. The study involved 1460 individuals: 347 T2D patients (D); 261 gestational diabetics (G); 147 offspring of T2D (O); 329 women with PCOS, and 376 controls (C). The SNPs: rs7901695; rs7903146; rs12255372 in the TCF7L2 gene were genotyped. Anthropometric and biochemical parameters, oGTT derived indices were assessed. In addition, free fatty acids (FFAs) were evaluated in 183 non-diabetic women. The CTT haplotype showed the strongest association with T2D with OR 1.57, p=0.0003. The frequency of the CTT/CTT haplotype was decreasing in following order: D 10.6, O 9.5, G 6.1, C 5.3 and PCOS 4.9 [%]. Among CTT carriers, significantly decreased levels of oGTT-stimulated insulin and C-peptide as well as proportions of fasting PUFAs were observed. The carriership of CTG/TCG was associated with gestational diabetes, OR 2.59, p=0.036. The association of TCF7L2 haplotypes with T2D and gestational diabetes but not with PCOS was confirmed. Novel association of TCF7L2 with FFAs composition was found. FAU - Včelák, J AU - Včelák J AD - Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic. jvcelak@endo.cz FAU - Vejražková, D AU - Vejražková D FAU - Vaňková, M AU - Vaňková M FAU - Lukášová, P AU - Lukášová P FAU - Bradnová, O AU - Bradnová O FAU - Hálková, T AU - Hálková T FAU - Bešťák, J AU - Bešťák J FAU - Andělová, K AU - Andělová K FAU - Kvasničková, H AU - Kvasničková H FAU - Hoskovcová, P AU - Hoskovcová P FAU - Vondra, K AU - Vondra K FAU - Vrbíková, J AU - Vrbíková J