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Prevalence of vitamin D receptor gene polymorphism in a Uruguayan population and its relation to type 1 diabetes mellitus A. Mimbacas1,2, J. Trujillo2*, C. Gascue2*, G. Javiel3,4* and H. Cardoso2* 1Departamento de Citogenética, Unidad Asociada Instituto de Biología,Facultad de Ciencias, Montevideo, Uruguay 2Departamento de Genética, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, Uruguay 3Unidad de Diabetes, C.A.S.M.U., Montevideo, Uruguay 4Hospital Pasteur, MSP, Montevideo, Uruguay *These authors contributed equally to this study. Corresponding author: A. Mimbacas E-mail: abmg@iibce.edu.uy Genet. Mol. Res. 6 (3): 534-542 (2007) ABSTRACT. Vitamin D has important immuno-modulatory properties and it influences insulin secretion. It acts through a vitamin D receptor (VDR), for which several gene polymorphisms have been described. The Uruguayan population presents several epidemiological characteristics that make it different from that of other counties, including other Latin-American countries. It went through miscegenation processes, with a tri-hybrid European, Amerindian and African origin, with no contribution from isolated Amerindian communities. Such differences have important consequences for the relationship between frequencies of several genes in the general population and their association with the diabetes mellitus. We examined the prevalence of VDR gene polymorphisms in the general population and their relation to type 1 diabetes in a parent-case design. One hundred unrelated individuals from the general population and 45 parent-patient triads with a child affected with type 1 diabetes were genotyped for FokI, BsmI and TaqI VDR gene polymorphisms by RFLP-PCR. We used a transmission disequilibrium test to assess preferential transmission of parents to affected offspring. The prevalence of the three VDR polymorphisms was: allele F = 48%, B = 35%, T = 64%. The f, b, T alleles and heterozygous genotypes were found at a high frequency in this population. Among 36 informative heterozygous parental genotypes, 30 transmitted the F allele (probability of transmission = 83%). The other two polymorphisms did not show significant transmission. We suggest that FokI polymorphism indicates susceptibility to type 1 diabetes mellitus in the Uruguayan population. Key words: Vitamin D receptor polymorphisms, Ethnic origin, Prevalence, Transmition/disequilibrium test
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