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Polymorphisms of ST2-IL18R1-IL18RAP gene cluster: a new risk for autoimmune thyroid diseases

机译:ST2-IL18R1-IL18RAP基因簇的多态性:自身免疫性甲状腺疾病的新风险

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摘要

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.
机译:白介素33(IL33)/ ST2途径和ST2-interlukin18受体1-interlukin18受体辅助蛋白(ST2-IL18R1-IL18RAP)基因簇已参与许多自身免疫性疾病,但关于自身免疫性甲状腺疾病(AITD)的报道很少。在这项研究中,我们调查了中国人群中IL33,ST2,IL18R1和IL18RAP的多态性是否与Graves病(GD)和桥本甲状腺炎(HT)这两种AITD的主要形式相关。在病例对照研究中共研究了11个SNP,包括417例GD患者,250例HT患者和301例对照,包括rs1929992,rs10975519,rs10208293,rs6543116,rs1041973,rs3732127,rs11465597,rs1035130,rs2293225,rs1035127,rs917 33,ST2-IL18R1-IL18RAP基因簇。使用Sequenom的基质辅助激光解吸/电离飞行时间质谱仪(MALDI-TOF-MS)平台对这些SNP进行基因分型。与对照组相比,rs患者的rs6543116(ST2)等位基因A和AA + AG基因型频率显着增加(P = 0.029 / 0.021,OR = 1.31 / 1.62)。在另一个SNP rs917997中,AA + AG基因型在HT受试者中的频率比对照组高(P = 0.046,OR = 1.53)。此外,来自ST2-IL18R1-IL18RAP基因簇的单倍型GAGCCCG(rs6543116,rs1041973,rs1035130,rs3732127,rs1035127,rs2293225,rs917997)与GD的易感性相关,OR为2.03(P = 0.022,95%CI = 1.07 -3.86)。 ST2-IL18R1-IL18RAP基因簇的一些SNP可能增加中国汉族人群对HT和GD的易感性风险。

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