Evaluation of vitamin D receptor gene polymorphisms (Fok-I and Bsm-I) in T1DM Saudi children.

BACKGROUND: Vitamin D deficiency conferred strongest susceptibility to pathogenesis of type 1 diabetes mellitus (T1DM). Altered gene expression and function have strong effect on VDR gene polymorphism.

OBJECTIVES: We aimed to check for the association of two single nucleotide polymorphisms (SNPs) in VDR gene (Fok-I and Bsm-I) with T1DM in Saudi children.

SUBJECTS AND METHODS: Cross-sectional study included 100 T1DM Saudi children, plus 102 unrelated healthy subjects. PCR technique was used for detection of Fok-I and Bsm-I SNPs in VDR gene.

RESULTS: Regarding the Fok-I polymorphisms, T1DM cases showed a significant increased frequency of the heterozygous genotype (Ff) than controls (33% vs 21%, OR = 1.9, 95% CI = 1.006-3.587, P = .04). In the meantime, they showed significantly lower frequency of the homozygous (ff) genotype (64% vs 79%, OR = 0.51, 95% CI = 0.28-0.96, P = .03). Cases showed also a significantly lower frequency of the (f) allele than controls (80.5% vs 87.7%, OR = 0.57, 95% CI = 0.33-0.995, P = .04). On the other hand, cases showed significantly higher frequency of the Bsm-I homozygous (bb) and heterozygous (Bb) genotypes (25% vs 11.8%, P = .01, OR = 2.5, 95% CI = 1.18-5.31) & (45% vs 27.5%, P = .0, OR = 2.1, 95 % CI = 1.20-3.89, respectively). Cases showed also significantly higher frequency of (b) allele compared to control (47.5% vs 25.5%, P = .0, OR = 2.6, 95% CI = 1.74-4.02). Haplotype analysis showed an increased risk with the fB and fb haplotypes.

CONCLUSION: This study emphasizes a positive association between SNPs (Fok-I and Bsm-I) and T1DM among Saudi children with increased risk with the Fok-I F and Bsm-I b alleles.