Session: MON 796-817-Diabetes Genetics & Epidemiology
Poster Board MON-814
Patients and Methods: We measured serum level of 25-hydroxyvitamin D (25-OHD) and 1α,25-dihydroxyvitamin D (1α,25-(OH)2D) in 252 subjects (96 patients with T1DM and 156 controls) 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.
Results: Mean value of 25-OHD and 1α,25-(OH)2D was significantly lower in youth with type 1 DM compared to those of normal controls (19.8 ± 7.2 ng/ml vs. 25.1 ± 8.9 ng/ml, p < 0.001 and 32.7 ± 13.0 pg/ml vs. 39.6 ± 17.2 pg/ml, p < 0.01, respectively). Prevalence of vitamin D deficiency was considerably higher in type 1 DM (54.2% vs. 32.1%, p < 0.01) and the serum 25-OHD level was negatively correlated with age. The GG genotype of rs12794714 was significantly more frequent in youth with type 1 DM (45.8% vs. 30.1%, p = 0.040) and patients also had higher frequencies in the allele G of rs12794714 and the allele A of rs10766196 (65.6% vs. 54.8%, p = 0.017 and 64.6% vs. 55.1%, p = 0.036, respectively). In AA genotype of rs12794714 and GG genotype of rs10766196 in patients with type 1 DM, the prevalence of vitamin D deficiency were considerably lower than those lacking them.
Conclusions: Two SNPs of CYP2R1 were identified with significant differences in allele frequencies and the prevalence of vitamin D deficiency were significantly lower in type 1 DM patients with these polymorphisms than patients lacking them. The pathophysiological mechanisms remain unexplained, but vitamin D polymorphisms could be related to susceptibility of type 1 DM in Korean youth.
Nothing to Disclose: HKN, JWB, YJO, YJR, KHL
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