Departamento de Endocrinología, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, 14610 Mexico City, Mexico.
Immunobiology. 2022 Jul;227(4):152244. doi: 10.1016/j.imbio.2022.152244. Epub 2022 Jul 9.
Rheumatoid arthritis (RA) and primary Sjögren's syndrome (pSS) are autoimmune diseases (ADs) characterized by joint damage and involvement of the salivary glands, respectively. ADs share some susceptibility loci, such as TNFSF4, which is a classical susceptibility gene associated with systemic lupus erythematosus, but its role in RA and pSS is not yet clear. Thus, the aim of this study was to determine whether three TNFSFS4 polymorphisms are associated with RA and pSS.
Our case-control study included 500 controls, 459 patients with RA, and 210 patients with pSS from Mexico. TNFSF4 single nucleotide polymorphisms (SNPs) rs1234315C/T, rs2205960G/T, and rs704840T/G were genotyped using TaqMan probes and discrimination allelic assay.
The three TNFSF4 SNPs were associated with susceptibility to RA (rs1234315C/T: odds ratio [OR] 1.4, p = 0.01; rs2205960G/T: OR 1.23, p = 0.03; rs704840T/G: OR 1.24, p = 0.02). An association between TNFSF4 rs1234315C/T and pSS was also observed (OR 1.28, p = 0.04), however, after Bonferroni correction, this association was lost.
Our data suggest that TNFSF4 could be a risk factor in RA but not pSS in a Mexican population.
类风湿关节炎（RA）和原发性干燥综合征（pSS）分别是由关节损伤和唾液腺受累为特征的自身免疫性疾病（AD）。AD 具有一些共同的易感基因座，如 TNFSF4，它是与系统性红斑狼疮相关的经典易感基因，但它在 RA 和 pSS 中的作用尚不清楚。因此，本研究旨在确定三个 TNFSFS4 多态性是否与 RA 和 pSS 相关。
我们的病例对照研究包括来自墨西哥的 500 名对照、459 名 RA 患者和 210 名 pSS 患者。使用 TaqMan 探针和区分等位基因测定法对 TNFSF4 单核苷酸多态性（SNP）rs1234315C/T、rs2205960G/T 和 rs704840T/G 进行基因分型。
三个 TNFSF4 SNP 与 RA 的易感性相关（rs1234315C/T：比值比 [OR] 1.4，p=0.01；rs2205960G/T：OR 1.23，p=0.03；rs704840T/G：OR 1.24，p=0.02）。TNFSF4 rs1234315C/T 与 pSS 之间也存在相关性（OR 1.28，p=0.04），然而，经过 Bonferroni 校正后，这种相关性消失了。
我们的数据表明，在墨西哥人群中，TNFSF4 可能是 RA 的危险因素，但不是 pSS 的危险因素。
