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Association of TCF7L2 mutation and atypical diabetes in a Uruguayan population

World Journal of Diabetes 2018年第9期9卷 157-164页

作者： carolina beloso Jorge Souto Matias Fábregat Gerardo Romanelli Gerardo Javiel Adriana Mimbacas Biodiversity and Genetics Department Instituto de Investigaciones Biológicas Clemente Estable Cytogenetics Laboratory Hematology and Transplant Service of Hematopoietic Progenitors Maciel Hospital ASSE Department of Genetics Faculty of Medicine UDELAR Human Molecular Genetics Laboratory Institut Pasteur de Montevideo Cell Signaling and Nanobiology Laboratory Instituto de Investigaciones Biológicas Clemente Estable Unit of Diabetes Hospital Pasteur ASSE-Ministry of Public Health Diabetologyc Service of Private Health Center Centro de Asistencia del Sindicato Médico del Uruguay

AIM To investigate if mutations in TCF7 L2 are associated with "atypical diabetes" in the Uruguayan population.METHODS Healthy, nondiabetic controls(n = 133) and patients with type 2 diabetes(n = 177) were selected from among the presenting population at level-3 referral healthcare centers in Uruguay. Patients with type 2 diabetes were subgrouped according to "atypical diabetes"(n = 92) and "classical diabetes"(n = 85). Genotyping for the rs12255372 and rs7903146 single nucleotide polymorphisms(SNPs) in the TCFTL2 gene was carried out with Taq Man? probes. Random samples were sequenced by Macrogen Ltd.(South Korea). Statistical analysis of the SNP data was carried out with the SNPStats online tool(http://***/SNPstats). The best inheritance model was chosen according to the lowest values of Akaike's information criterion and Bayesian information criterion. Differences between groups were determined by unpaired t-tests after checking the normal distribution or were converted to normalize the data. The association of SNPs was tested for matched case-control samples by using χ2 analysis and calculation of odds ratios(ORs) with 95% confidence intervals(CIs). All statistical tests were performed using SPSS v10.0 and EpiI nfo7 statistical packages. Significant statistical differences were assumed in all cases showing adjusted P < 0.05.RESULTS We genotyped two TCF7 L2 SNPs(rs7903146 and rs12255372) in a population-based sample of 310 Uruguayan subjects, including 133 healthy control subjects and 177 clinical diagnosed with type 2 diabetes. For both SNPs analyzed, the best model was the dominant type: rs12255372 = G/G vs G/T+T/T, OR = 0.63, 95%CI: 0.40-0.98, P < 0.05 and rs7903146 = C/C vs C/T+T/T, OR = 0.79, 95%CI: 0.41-1.55, P = 0.3. The rs12255372 SNP showed high association with the type 2 diabetes cases(OR = 1.60, 95%CI: 1.20-2.51, P < 0.05). However, when the type 2 diabetics group was analyzed according to the atypical and classical subgroupings, the association with diabetes existed only for rs12255372 and the cla

关键词： TCF7L2 Atypical diabetes Type 2 diabetes Latin America TaqMan

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