Interleukin-13 gene polymorphisms confer the susceptibility of Japanese populations to Graves' disease.
Graves' disease (GD) is an autoimmune disorder with genetic predisposition. IL-13 is an important mediator of antiinflammatory immune responses and is expressed in the thyroid and orbit. The aim of the present study was to investigate whether IL-13 gene polymorphisms are associated with the development of GD. IL-13 gene polymorphisms were studied in Japanese GD patients (n = 310) and healthy control subjects without antithyroid autoantibodies or a family history of autoimmune disorders (n = 244). A C/T polymorphism at position -1112 of the promoter region was measured using the direct sequencing method, and an Arg(130)Gln (G2044A) polymorphism in exon 4 was examined using the PCR-restriction fragment length polymorphism method. There was a significant decrease in -1112T allele frequency in GD patients compared with controls (16% vs. 23%; P = 0.0019). The frequency of the 2044A allele on exon 4 also appeared lower in GD patients compared with controls. Haplotype analysis showed a significant decrease in the -1112T/2044A haplotype in GD patients. There was no association between IL-13 gene polymorphisms and ophthalmopathy, severity, or serum IgE levels. In conclusion, IL-13 gene polymorphisms are associated with GD susceptibility in Japan.
Department of Endocrinology and Metabolism, Kurume University School of Medicine, 67 Asahimatchi, Kurume, Fukuoka 830-0011, Japan. yuji@med.kurume-u.ac.jp
Yuji
Y
Hiromatsu
Tomoka
T
Fukutani
Michiko
M
Ichimura
Tokunori
T
Mukai
Hiroo
H
Kaku
Hitomi
H
Nakayama
Ikuyo
I
Miyake
Shingo
S
Shoji
Yoshiro
Y
Koda
Tomasz
T
Bednarczuk
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D018793:Interleukin-13 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D018793:Interleukin-13; D007073:Immunoglobulin E