engleski

FokI polymorphism, vitamin D receptor and interleukin 1 receptor haplotypes are associated with Type 1 Diabetes in the Dalmatian population

Vitamin D and interleukin-1 have been suggested to play a role in the pathogenesis of type 1 diabetes mellitus (T1DM). Therefore, we have studied the influence of vitamin D receptor (VDR) and interleukin-1 receptor (IL1-R1) gene polymorphisms on susceptibility to T1DM in the Dalmatian population of South Croatia. We genotyped 134 children with T1DM and 132 control subjects, except for the FokI polymorphism where we extended control group for additional 102 subjects. VDR gene polymorphism FokI displayed unequal distribution (p=0.0049) between T1DM and control group, with the "ff" genotype occurring more frequently in the T1DM individuals while VDR gene polymorphism Tru9I did not differ in frequency between studied groups. All tested polymorphisms of IL1-R1 gene, PstI, HinfI and AluI (promoter region) and PstI-e (exon 1B region) did not display difference among cases and controls. Haplotype analysis of VDR gene (FokI, BsmI, ApaI, TaqI, Tru9I) and of IL1-R1 gene (PstI, HinfI, AluI, PstI-e) found VDR FbATu (p=0.0388) and IL1-R1 phap' (p=0, 0419) haplotypes more frequently in T1DM patients while BatU haplotype occured more times in the control group (p=0, 0064). Our findings indicate that VDR FokI polymorphism and several VDR and IL1-R1 haplotypes are associated with susceptibility to T1DM in the Dalmatian population.

Vitamin D receptor; Interleukin 1 receptor; genotype; haplotype; linkage disequilibrium; Type 1 diabetes; Dalmatia

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