Department of Genetics and Biotechnology, Jordan University of Science and Technology, Irbid, Jordan.
Autoimmunity. 2013 May;46(3):215-21. doi: 10.3109/08916934.2013.768617.
The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves' disease and Hashimoto thyroiditis. In AITD, immune system produces antibodies against autothyroid antigens. The etiology of AITDs involves a complex interaction between genetic predisposing factors and environmental triggering factors. Variations in NACHT leucine-rich repeat protein 1(NLRP1) gene a key regulator of the innate immunity have been shown to confer risk for vitiligo and several autoimmune diseases. In this study we hypothesize that variants in NLRP1 gene might be involved in the susceptibility to autoimmune thyroid disease. Five single nucleotide polymorphisms (SNPs) in NLRP1 were genotyped in 207 AITD patients and 220 normal controls. We found that NLRP1 rs12150220 T allele (OR = 1.273, 95% CI: 0.971-1.670, p = 0.040) and NLRP1 rs2670660 G allele (OR = 1.264, 95% CI: 0.965-1.656, p = 0.044) were significantly associated with AITD compared with controls. These results suggest that NLRP1 may be involved in the pathogenesis of AITD.
自身免疫性甲状腺疾病（AITD）包括两种相关疾病，格雷夫斯病和桥本甲状腺炎。在 AITD 中，免疫系统产生针对自身甲状腺抗原的抗体。AITD 的病因涉及遗传易感性因素和环境触发因素之间的复杂相互作用。NACHT 富含亮氨酸重复蛋白 1（NLRP1）基因的变异，作为先天免疫的关键调节因子，已被证明与白癜风和几种自身免疫性疾病的风险相关。在这项研究中，我们假设 NLRP1 基因的变异可能与自身免疫性甲状腺疾病的易感性有关。在 207 名 AITD 患者和 220 名正常对照中，对 NLRP1 中的 5 个单核苷酸多态性（SNP）进行了基因分型。我们发现 NLRP1 rs12150220 T 等位基因（OR=1.273，95%CI：0.971-1.670，p=0.040）和 NLRP1 rs2670660 G 等位基因（OR=1.264，95%CI：0.965-1.656，p=0.044）与对照组相比，与 AITD 显著相关。这些结果表明，NLRP1 可能参与 AITD 的发病机制。
