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IL‐18 gene polymorphism confers susceptibility to the development of anti‐GAD65 antibody in Graves’ disease
Author(s) -
Hiromatsu Y.,
Mukai T.,
Kaku H.,
Miyake I.,
Ichimura M.,
Fukutani T.,
Nakayama H.,
Takata K.,
Imamura Y.,
Shoji S.,
Yamada K.,
Koda Y.,
Bednarczuk T.
Publication year - 2006
Publication title -
diabetic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.474
H-Index - 145
eISSN - 1464-5491
pISSN - 0742-3071
DOI - 10.1111/j.1464-5491.2005.01734.x
Subject(s) - haplotype , genotype , graves' disease , linkage disequilibrium , medicine , allele , single nucleotide polymorphism , allele frequency , polymorphism (computer science) , immunology , disease , endocrinology , gene , genetics , biology
Aims This study aimed to investigate whether interleukin‐18 (IL‐18) gene polymorphisms are associated with the development of antibody against the 65‐kDa isoform of recombinant human glutamic acid decarboxylase (GAD65Ab) in patients with Graves’ disease. Methods A total of 398 unrelated Japanese patients with Graves’ disease, with and without GAD65Ab, were recruited. Three single nucleotide polymorphisms in the IL‐18 gene were examined and the polymorphic allele and the genotype and haplotype frequencies calculated. Results The frequency of the GG genotype at position −4675 of the IL‐18 gene was significantly lower in Graves’ disease patients with GAD65Ab than those without (4% vs. 24%, P = 0.0126). The −4675C allele frequency was significantly greater in patients with GAD65Ab than those without (69% vs. 53%, P = 0.0168). The homozygous −4675G/−607A/−137G haplotype was less common in Graves’ disease patients with GAD65Ab than those without (4% vs. 23%, P = 0.0144). Conclusions These findings in a Japanese population indicate that Graves’ disease patients carrying the GG genotype at position −4657 of the promoter of the IL‐18 gene or a gene in linkage disequilibrium with the −4675G/−607A/−137G haplotype have a low risk for the development of GAD65Ab in Graves’ disease.