Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children

Cell Immunol. 2012 Sep;279(1):42-5. doi: 10.1016/j.cellimm.2012.08.006. Epub 2012 Sep 20.

Abstract

CYP2R1 (25α-hydroxylase) catalyzes vitamin D(3) to 25-hydroxyvitamin D(3), while the CYP27B1 (1α-hydroxylase) catalyzes the 25(OH)D(3) to 1, 25(OH)(2)D(3). 1, 25(OH)(2)D(3) prevents the development of autoimmune diabetes. We aimed to investigate CYP2R1 and CYP27B1 genes polymorphisms and susceptibility to type 1 diabetes in children. One hundred and twenty type 1 diabetic patients and One hundred and twenty controls were genotyped for CYP2R1 (rs10741657) and CYP27B1 (rs10877012) polymorphism. GG genotype of CYP2R1 increased risk to develop type 1 diabetes, and CC genotype of CYP27B1 increased risk to develop type 1 diabetes. Our finding suggested that GG genotype of CYP2R1 polymorphism and/or CC genotype of CYP27B1 polymorphism increased the risk of developing of type 1 diabetes in Egyptian children. In addition there was a synergism between GG genotype of CYP2R1 and CC genotype of CYP27B1 regarding the risk of development of type 1 diabetes.

MeSH terms

  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics*
  • Adolescent
  • Alleles
  • Analysis of Variance
  • Calcium / blood
  • Child
  • Cholestanetriol 26-Monooxygenase / genetics*
  • Cytochrome P450 Family 2
  • Diabetes Mellitus, Type 1 / blood
  • Diabetes Mellitus, Type 1 / enzymology
  • Diabetes Mellitus, Type 1 / genetics*
  • Egypt
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Vitamin D / analogs & derivatives
  • Vitamin D / blood

Substances

  • Vitamin D
  • 25-hydroxyvitamin D
  • Cytochrome P450 Family 2
  • CYP2R1 protein, human
  • Cholestanetriol 26-Monooxygenase
  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
  • Calcium