Analysis of polymorphisms of the interleukin-18 gene in type 1 diabetes and Hardy-Weinberg equilibrium testing

Diabetes. 2006 Feb;55(2):559-62. doi: 10.2337/diabetes.55.02.06.db05-0826.

Abstract

Recently, the interleukin-18 cytokine gene (IL18) was reported to be associated with type 1 diabetes. In the present report, we calculated that the reported genotypes of the two 5' region/promoter single nucleotide polymorphisms (SNPs), -607 (C-->A) (rs1946518) and -137 (G-->C) (rs187238), were not in Hardy-Weinberg equilibrium (HWE). We therefore investigated the association of the -607 and -137 SNPs in a U.K. type 1 diabetic Caucasian case-control collection (1,560 case and 1,715 control subjects tested at -607 and 4,323 case and 4,610 control subjects tested at -137) as well as a type 1 diabetic Caucasian collection comprised of families of European ancestry (1,347 families tested at -137 and 1,356 families tested at -607). No evidence for association with type 1 diabetes was found, including for the -607 A/A and C/A genotypes. To evaluate whether common variation elsewhere in the gene was associated with disease susceptibility, we analyzed eight IL18 tag SNPs in a type 1 diabetic case-control collection (1,561 case and 1,721 control subjects). No evidence for association was obtained (P = 0.11). We conclude that common allelic variation in IL18 is unlikely to contribute substantially to type 1 diabetes susceptibility in the populations tested and recommend routine application of tests for HWE in population-based studies for genetic association.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Black People / genetics
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Gene Frequency*
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Interleukin-18 / genetics*
  • Male
  • Obesity / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • White People / genetics

Substances

  • Interleukin-18