title: Comprehensive analysis of cytokine gene polymorphisms defines the association of IL-12 gene with ophthalmopthy in Korean children with autoimmune thyroid disease.
abstract: In early onset autoimmune thyroid disease (AITD) showing a strong genetic tendency, cytokines have been suggested to play a critical role in the development of AITD. To directly compare the influences of several cytokine gene polymorphisms, 25 single nucleotide polymorphisms (SNPs) in 17 cytokine genes were analyzed on 104 Korean children with AITD [Hashimoto's disease (HD) = 44, Graves' disease (GD) = 60 (thyroid-associated ophthalmopathy (TAO) = 29, non-TAO = 31)] and 192 controls. Compared with healthy controls, any significant association with polymorphisms of cytokine genes was not found in HD and GD. Among GD patients, non-TAO group only showed significant associations with IL-12 C allele (rs3212227: A > C) (76.6% vs. 51.6%, OR = 0.3 [0.15-0.71], Pc = 0.007). Particularly, the frequency of IL-12C allele was significantly lower in the non-TAO group than in the TAO group (82.8% vs. 51.6%, Pc = 0.018). Our comprehensive analysis of cytokine gene polymorphisms suggests that IL-12 gene may play impact on specific pathogenesis of ophthalmopathy in Korean children with AITD.
authors: Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: jpjang@catholic.ac.kr.
authors: Jung-Pil
authors: JP
authors: Jang
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: wendy626@catholic.ac.kr.
authors: Won-Kyoung
authors: WK
authors: Cho
authors: Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: icbaek@catholic.ac.kr.
authors: In-Cheol
authors: IC
authors: Baek
authors: Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: cutiejeong@catholic.ac.kr.
authors: Eun-Jeong
authors: EJ
authors: Choi
authors: Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: donghwan8812@catholic.ac.kr.
authors: Dong-Hwan
authors: DH
authors: Shin
authors: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: suhbk@catholic.ac.kr.
authors: Byung-Kyu
authors: BK
authors: Suh
authors: Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea; Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: kimtg@catholic.ac.kr.
authors: Tai-Gyu
authors: TG
authors: Kim
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics*; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea
chemical_list: D018664:Interleukin-12
keywords: Autoimmune thyroid diseases; Cytokines; Graves' disease; Hashimoto's disease; Single nucleotide polymorphisms; Thyroid-associated ophthalmopathy