title: Polymorphisms of ST2-IL18R1-IL18RAP gene cluster: a new risk for autoimmune thyroid diseases.
abstract: Interleukin 33 (IL33) / ST2 pathway and ST2-interlukin18 receptor1-interlukin18 receptor accessory protein (ST2-IL18R1-IL18RAP) gene cluster have been involved in many autoimmune diseases but few report in autoimmune thyroid diseases (AITD). In this study, we investigated whether polymorphisms of IL33, ST2, IL18R1, and IL18RAP are associated with Graves' disease (GD) and Hashimoto's thyroiditis (HT), two major forms of AITD, among a Chinese population. A total of 11 SNPs were explored in a case-control study including 417 patients with GD, 250 HT patients and 301 controls, including rs1929992, rs10975519, rs10208293, rs6543116, rs1041973, rs3732127, rs11465597, rs1035130, rs2293225, rs1035127, rs917997 of IL 33, ST2-IL18R1-IL18RAP gene cluster. Genotyping of these SNPs was performed using matrix-assisted laser desorption / ionization-time-of-flight mass spectrometer (MALDI-TOF-MS) platform from Sequenom. The frequencies of allele A and AA+AG genotype of rs6543116 (ST2) in HT patients were significantly increased compared with those of the controls (P = 0.029/0.021, OR = 1.31/1.62). And in another SNP rs917997, AA+AG genotype presented an increased frequency in HT subjects compared with controls (P = 0.046, OR = 1.53). Furthermore, the haplotype GAGCCCG from ST2-IL18R1-IL18RAP gene cluster (rs6543116, rs1041973, rs1035130, rs3732127, rs1035127, rs2293225, rs917997) was associated with increased susceptibility to GD with an OR of 2.03 (P = 0.022, 95% CI = 1.07-3.86). Some SNPs of ST2-IL18R1-IL18RAP gene cluster might increase the risk of susceptibility of HT and GD in Chinese Han population.
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School, Xi'an Jiaotong University, Shaanxi, China.|Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.affiliation: Clinical Research Center, The First Affiliated Hospital of Medical School, Xi'an Jiaotong University, Shaanxi, China.
authors.forename: Y F
authors.initials: YF
authors.lastname: Zhu
authors.affiliation: Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Shaanxi, China.
authors.forename: D M
authors.initials: DM
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Qin
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: F S
authors.initials: FS
authors.lastname: Muhali
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: W J
authors.initials: WJ
authors.lastname: Jiang
authors.affiliation: Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China.
authors.forename: J A
authors.initials: JA
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001327:Autoimmune Diseases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics* / Q000473:pathology; D006239:Haplotypes; D050031:Hashimoto Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000072179:Interleukin-1 Receptor-Like 1 Protein / Q000235:genetics*; D053727:Interleukin-18 Receptor alpha Subunit / Q000235:genetics*; D053728:Interleukin-18 Receptor beta Subunit / Q000235:genetics*; D000067596:Interleukin-33 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D020641:Polymorphism, Single Nucleotide
chemical_list: C508572:IL18R1 protein, human; C115629:IL18RAP protein, human; C079241:IL1RL1 protein, human; C506536:IL33 protein, human; D000072179:Interleukin-1 Receptor-Like 1 Protein; D053727:Interleukin-18 Receptor alpha Subunit; D053728:Interleukin-18 Receptor beta Subunit; D000067596:Interleukin-33