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Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population
Author(s) -
Cheon ChongKun,
Nam HyoKyoung,
Lee KeeHyoung,
Kim Su Yung,
Song Ji Sun,
Kim Choongrak
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12634
Subject(s) - medicine , genotype , calcitriol receptor , type 1 diabetes , genotype frequency , single nucleotide polymorphism , allele frequency , gastroenterology , allele , case control study , diabetes mellitus , endocrinology , vitamin d and neurology , genetics , gene , biology
Background Vitamin D receptor (VDR) has been suggested to play a role in the pathogenesis of type 1 diabetes mellitus (T1DM). There has been no case–control study examining the association between VDR polymorphisms and T1DM among Korean subjects with a low incidence of T1DM. Methods Eighty‐one T1DM patients and 113 unrelated healthy controls with no history of DM or other autoimmune diseases were investigated at either Pusan National University Children's Hospital or Korea University Anam Hospital between March 2009 and September 2013. Polymerase chain reaction–restriction fragment length polymorphism was utilized to genotype single nucleotide substitutions at Taq I, Bsm I, and Apa I alleles. Results All frequencies in T1DM and control subjects were in Hardy–Weinberg equilibrium, although Apa I in controls and Taq I in T1DM showed relatively weak equilibrium. Taq I and Bsm I differences were significant ( P = 0.045 and P = 0.012, respectively) after applying Bonferroni correction. The TT genotype carrier frequency among controls was higher than among the T1DM patients ( P = 0.015; OR, 2.98; 95%CI: 1.19–7.42). T allele frequency was higher among controls than T1DM patients ( P = 0.019; OR, 2.78; 95%CI: 1.15–6.72). The frequency of bb genotype carriers among controls was higher than among T1DM patients ( P = 0.004; OR, 4.13; 95%CI: 1.4–12.10). The frequency of the b allele among controls was higher than that among T1DM patients ( P = 0.016; OR, 3.20; 95%CI: 1.19–8.60). Conclusions T and b Taq I and Bsm I alleles are protective against T1DM in Korean subjects.