Interleukin-12B gene polymorphism does not confer susceptibility to Graves' ophthalmopathy in Japanese population.
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.
Hiromatsu
Yuji
Y
Division of Endocrinology and Metabolism, Department of Medicine, Kurume University School of Medicine, Fukuoka, Japan.
Fukutani
Tomoka
T
Ichimura
Michiko
M
Mukai
Tokunori
T
Kaku
Hiroo
H
Miyake
Ikuyo
I
Yamada
Kentaro
K
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
C500879:IL12B protein, human; D053762:Interleukin-12 Subunit p40