IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population

Autoimmunity. 2012 May;45(3):226-32. doi: 10.3109/08916934.2011.633134. Epub 2011 Nov 29.

Abstract

The evaluation of susceptibility loci is an important addition to the current predictive and screening models in type 1 diabetes of Chinese Han population. Therefore, the aim of this study is to provide evidence for the association between type 1 diabetes and two polymorphisms (rs3747517, rs1990760) from interferon induced with helicase C domain 1 (IFIH1). Here, 464 Type 1 diabetes patients and 465 control subjects were genotyped for these 2 polymorphisms. The results indicated that the allelic frequencies of rs3747517 revealed a strong association with type 1 diabetes risk (P < 0.001); yet, no significant association was observed on rs1990760(P = 0.76). Furthermore, IFIH1 rs3747517 polymorphism had no influence on the positive rates of pancreatic auto-antibodies, and both of the polymorphisms had no interaction with HLA class I-linked risk or phenotypes. In conclusion, IFIH1 rs3747517, but not rs1990760 polymorphism, plays an important role in type 1 diabetes risk in Chinese Han population.

MeSH terms

  • Adult
  • Alleles
  • Asian People / genetics
  • Autoantibodies / immunology
  • Case-Control Studies
  • China
  • DEAD-box RNA Helicases / genetics*
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Gene Frequency
  • Genetic Association Studies*
  • HLA Antigens / immunology
  • Humans
  • Interferon-Induced Helicase, IFIH1
  • Islets of Langerhans / immunology
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Young Adult

Substances

  • Autoantibodies
  • HLA Antigens
  • IFIH1 protein, human
  • DEAD-box RNA Helicases
  • Interferon-Induced Helicase, IFIH1