title: Interleukin-12B gene polymorphism does not confer susceptibility to Graves' ophthalmopathy in Japanese population.
abstract: Graves' disease (GD) is an autoimmune disorder with genetic predisposition and frequently associated with Graves' ophthalmopathy (GO). Interleukin 12 (IL-12) is an important mediator of inflammatory immune responses and is expressed in the thyroid and orbit. IL-12B gene, which encodes the p40 subunit of IL-12, is located at chromosome 5q31-33. The aim of the present study was to investigate whether IL-12B gene polymorphism is associated with the development of GD or GO. IL-12B gene polymorphism was studied in Japanese GD patients (n = 329) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n = 226). The A/C polymorphism at position 1188 of the 3' untranslated region (3'UTR) of the IL-12B gene was analyzed using the polymerase chain reaction--restriction fragment length polymorphism method. There was no difference in allele or genotype frequency of the IL-12B gene polymorphism (1188A/C) between GD patients and control subjects. There was no association of the IL-12B gene polymorphism with ophthalmopathy, severity of hyperthyroidism or serum IgE levels. There was no association of the IL-12B gene polymorphism with serum IL-12 levels, which were significantly elevated in hyperthyroid phase of GD. In conclusion, IL-12B gene 1188A/C polymorphism is not associated with GD or GO susceptibility in Japanese.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Kurume University School of Medicine, Fukuoka, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hiromatsu
authors.forename: Tomoka
authors.initials: T
authors.lastname: Fukutani
authors.forename: Michiko
authors.initials: M
authors.lastname: Ichimura
authors.forename: Tokunori
authors.initials: T
authors.lastname: Mukai
authors.forename: Hiroo
authors.initials: H
authors.lastname: Kaku
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Miyake
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yamada
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002648:Child; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000097:blood / Q000235:genetics; D049970:Graves Ophthalmopathy / Q000097:blood / Q000235:genetics*; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: C500879:IL12B protein, human; D053762:Interleukin-12 Subunit p40