Several reports have found a relation between polymorphisms of the vitamin D receptor gene (VDR) and the development of type
1 diabetes. We have examined the association of three VDR polymorphism with type 1 diabetes in 59 Chilean case-parents trios.
Genotyping for Bsm1, Apa1 and Taq1 polymorphism were performed. Transmission/disequiibrium tests were used to assess gene-disease
associations through the evaluation of allelic transmission to affected offspring. Non-significant increased transmissions
of B allele (probability of transmission=52.5,
p=0.69), A allele (probability of transmission=58.4,
p=0.17) and T allele (probability of transmission=52.0,
p=0.77) were estimated in Bsm1, Apa1 and Taq1 sites, respectively. Haplotype-based analyses showed non-significant preferential
transmissions (global
p=0.52). The present study does not support the hypothesis of a significant contribution of VDR alleles in the etiology of
type 1 diabetes of Chilean cases.
Keywords Polymorphism - TDT analysis - Type 1 diabetes - VRD