Human Immunology ( IF 2.7 ) Pub Date : 2023-12-01 , DOI: 10.1016/j.humimm.2023.110736 Isela Montúfar-Robles , Rosa Elda Barbosa-Cobos , Juanita Romero-Díaz , Guillermo Valencia-Pacheco , Carlos Cabello-Gutiérrez , Julian Ramírez-Bello
TNFAIP3 is a classical systemic lupus erythematosus (SLE)-associated risk locus identified by genome-wide association studies (GWASs) and replicated by candidate gene association studies primarily in Caucasians and Asians. However, in Latin American populations, its role on SLE susceptibility is not known. We conducted a case-control study to evaluate whether the TNFAIP3 rs2230926T/G (Phe127Cys) variant is associated with risk of developing SLE in a cohort of Mexican patients. The TNFAIP3 rs2230926T/G variant was analyzed in 561 patients with SLE and 499 control subjects, using TaqMan probes. We found that the G allele was associated with susceptibility to SLE under the allelic (OR 2.09, p = 0.005) and genotypic (OR 2.14, p = 0.004) models. In conclusion, our results show that TNFAIP3 rs2230926T/G is a risk factor for the development of SLE in the Mexican population.
中文翻译:
功能性 TNFAIP3 rs2230926T/G (Phe127Cys) 变异会增加拉丁美洲人群患系统性红斑狼疮的风险
TNFAIP3是一种经典的系统性红斑狼疮 (SLE) 相关风险位点,通过全基因组关联研究 (GWAS) 确定,并通过主要在白种人和亚洲人中的候选基因关联研究进行复制。然而,在拉丁美洲人群中,其对 SLE 易感性的作用尚不清楚。我们进行了一项病例对照研究,以评估TNFAIP3 rs2230926T/G (Phe127Cys) 变异是否与墨西哥患者队列中发生 SLE 的风险相关。使用 TaqMan 探针对 561 名 SLE 患者和 499 名对照受试者的TNFAIP3 rs2230926T /G 变异体进行了分析。我们发现,在等位基因(OR 2.09, p = 0.005)和基因型(OR 2.14,p = 0.004)模型下,G 等位基因与 SLE 易感性相关 。总之,我们的结果表明TNFAIP3 rs2230926T/G 是墨西哥人群中发生 SLE 的危险因素。