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目的 探讨蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因rs3765598多态性与中国北方汉族女性系统性红斑狼疮(SLE)易感性的关联。方法 采用病例-对照研究，纳入122例SLE患者及246例健康对照。应用序列特异性聚合酶链反应(PCR-SSP)进行基因分型，通过χ2检验及不同遗传模型分析评估该位点与SLE的关联，并基于公共数据库开展表达数量性状位点(eQTL)分析。结果 rs3765598位点基因型分布在病例组与对照组间差异有统计学意义(P=0.035)。与GG基因型相比，GA基因型(OR = 0.555，95% CI: 0.376～0.883，P=0.015)及GA+AA基因型(OR = 0.641，95% CI: 0.414～0.994，P=0.046)与SLE风险降低相关。eQTL分析显示，该位点与初始B细胞中PTPN22表达水平呈显著正相关(P=2.57e-06)。结论 PTPN22 rs3765598位点的GA及GA+AA基因型可能与中国北方汉族女性SLE易感性降低相关，其在初始B细胞中的表达特异性关联为潜在功能机制提供了线索。
Abstract：Objective To investigate the association between the protein tyrosine phosphatase non-receptor type 22（PTPN22）rs3765598 polymorphism and susceptibility to systemic lupus erythematosus (SLE) in northern Han Chinese women. Methods A case-control study was conducted including 122 SLE patients and 246 healthy controls. Genotyping was performed using PCR with sequence specific primer (PCR-SSP). Associations were evaluated using χ tests and genetic model analyses. Expression quantitative trait locus (eQTL) analysis was conducted based on public databases. Results A significant difference in genotype distribution of rs3765598 was observed between patients and controls (P=0.035). Compared with the GG genotype， the GA genotype (OR=0.555， 95%CI: 0.376–0.883， P=0.015) and the GA+AA genotype (OR = 0.641， 95%CI: 0.414–0.994， P=0.046) were associated with a reduced risk of SLE. eQTL analysis revealed a significant positive correlation between rs3765598 and PTPN22 expression in naive B cells (P=2.57e-06). Conclusion The GA and GA+AA genotypes of PTPN22 rs3765598 may be associated with decreased susceptibility to SLE in this population. Their cell-specific association with PTPN22 expression in naive B cells provides a potential functional clue.
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基本信息:
中图分类号:R593.241
引用信息:
[1]徐怡瑞,史晓飞,刘熔增.PTPN22 rs3765598多态性与系统性红斑狼疮易感性关联研究[J].安徽医科大学学报().
基金信息:
国家自然科学基金项目（编号：81901663）
2026-09-03
2026-09-03
2026-09-03