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Polymorphisms of ST 2‐ IL 18R1‐ IL 18 RAP gene cluster: a new risk for autoimmune thyroid diseases
Author(s) -
Wang X.,
Zhu Y. F.,
Li D. M.,
Qin Q.,
Wang Q.,
Muhali F. S.,
Jiang W. J.,
Zhang J. A.
Publication year - 2016
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12240
Subject(s) - single nucleotide polymorphism , genotype , haplotype , immunology , population , medicine , biology , gene , genetics , environmental health
Summary Interleukin 33 ( IL 33) / ST 2 pathway and ST 2‐interlukin18 receptor1‐interlukin18 receptor accessory protein ( ST 2‐ IL 18R1‐ IL 18 RAP ) 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 IL 33, ST 2, IL 18R1, and IL 18 RAP are associated with Graves' disease ( GD ) and Hashimoto's thyroiditis ( HT ), two major forms of AITD , among a Chinese population. A total of 11 SNP s 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, ST 2‐ IL 18R1‐ IL 18 RAP gene cluster. Genotyping of these SNP s 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 ( ST 2) 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 ST 2‐ IL 18R1‐ IL 18 RAP 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 SNP s of ST 2‐ IL 18R1‐ IL 18 RAP gene cluster might increase the risk of susceptibility of HT and GD in Chinese Han population.