Gene

Molecular biology

Biology

Endocrinology

Receptor

Polymorphism (computer science)

Single-nucleotide polymorphism

Immunology

Genetics

Gene polymorphism

Allele frequency

Genotype

Internal medicine

Haplotype

Vitamin D and neurology

Medicine

Gastroenterology

Allele

Pathogenesis

Genotype frequency

Calcitriol receptor

Journal of Clinical Laboratory Analysis

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) &amp; (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.

Evaluation of vitamin D receptor gene polymorphisms (<i>Fok‐I and Bsm‐I</i>) in T1DM Saudi children

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