West China School of Medicine/Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Outpatient Department, West China Hospital, Sichuan University, Chengdu, China.
Immunol Invest. 2022 Oct;51(7):2097-2107. doi: 10.1080/08820139.2022.2108325. Epub 2022 Aug 5.
Defects in apoptotic cell clearance is a pathogenic factor in systemic lupus erythematosus (SLE). This study screened potential pathogenic single nucleotide polymorphisms (SNPs) related to anti-apoptosis from an SLE family and explored their contribution to SLE susceptibility in Chinese women.
Four SNPs ( rs15672, rs12640056, rs6842661, and rs1957106) with potential SLE susceptibility were analyzed for clinical characteristics between 567 patients with SLE and 345 healthy control subjects.
rs15672 G/A and rs12640056C/T polymorphisms were associated with SLE susceptibility (rs15672 A vs G, = 0.028, OR = 1.25, 95% CI = 1.02-1.52; rs12640056 T vs C, = 0.015, OR = 0.78, 95% CI = 0.64-0.95, respectively). In addition, patients with AA+GA genotypes of rs15672 had higher positive rates of anti-SSB antibodies ( = 0.008) and lower positive rates of anti-RIB antibodies ( = 0.024) than those with the GG genotype. There were no significant differences in rs12640056 between different genotypes and clinical characteristics.
rs15672 G/A and rs12640056C/T polymorphisms are associated with susceptibility to SLE in Chinese women. This highlights the important role of these two SNPs in this disease and suggests that multiple genes from these pathways are candidates for functional studies and therapeutic targets.
细胞凋亡清除缺陷是系统性红斑狼疮（SLE）的致病因素。本研究从 SLE 家系中筛选与抗凋亡相关的潜在致病性单核苷酸多态性（SNP），并探讨其在中国女性 SLE 易感性中的作用。
分析了与 SLE 易感性相关的 4 个潜在 SNP（rs15672、rs12640056、rs6842661 和 rs1957106）在 567 例 SLE 患者和 345 例健康对照者中的临床特征。
rs15672 G/A 和 rs12640056 C/T 多态性与 SLE 易感性相关（rs15672 A 对 G，=0.028，OR=1.25，95%CI=1.02-1.52；rs12640056 T 对 C，=0.015，OR=0.78，95%CI=0.64-0.95）。此外，rs15672 的 AA+GA 基因型患者抗 SSB 抗体阳性率较高（=0.008），抗 RIB 抗体阳性率较低（=0.024），而 GG 基因型患者无显著差异。rs12640056 不同基因型与临床特征之间无显著差异。
rs15672 G/A 和 rs12640056 C/T 多态性与中国女性 SLE 易感性相关。这突显了这两个 SNP 在该疾病中的重要作用，并表明这些通路中的多个基因是功能研究和治疗靶点的候选者。
