Vitamin D deficiency is reported in patients with type 1 diabetes mellitus (T1DM). Allelic variations in the gene associated with vitamin D metabolism were reported to play a role in glucose metabolism. CYP2R1 and CYP27B1 gene polymorphisms were investigated as a candidate gene for T1DM in Korean youth.
We measured serum level of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D in 217 subjects and defined vitamin D deficiency as 25-hydroxyvitamin D level below 20 ng/ml. Five single nucleotide polymorphisms (SNPs) in the CYP2R1 gene and three SNPs in the CYP27B1 gene were examined in 92 patients with T1DM and 125 controls. The frequency of A/G alleles of the rs12794714 was 35.9%/64.1% and 46.0%/54.0% in T1DM youth and controls, respectively (p=0.034). The G/A alleles of the rs10766196 was 37.0%/63.0% and 46.0%/54.0% in T1DM youth and controls, respectively (p=0.059). We observed that the GG homozygous genotype of rs12794714 and AA homozygous genotype of rs10766196 were more prevalent in T1DM youth than in controls (42.4% vs. 29.6%, p=0.051 and 41.3% vs. 29.6%, p=0.073, respectively). The prevalence of vitamin D deficiency was considerably higher in T1DM youth with ‘G’ allele of rs12794714 and ‘A’ allele of rs12794714.
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Polymorphisms in CYP2R1 gene are associated with susceptibility to T1DM in Korean youth. The pathophysiological mechanisms remain unexplained, but they could be related to an etiological role for vitamin D deficiency in T1DM.
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