Zhu Lihua, Zhou Lingling, Wang Liang, Chen Cunte, Qiao Jie, Huang Xinran, Su Xiaoyan, Chen Shaohua, Li Bo, Wu Xiuli, Li Yangqiu
Department of Rheumatology and Immunology, First Affiliated Hospital, Jinan University, Guangzhou, 510632, People's Republic of China.
Institute of Hematology, School of Medicine, Key Laboratory for Regenerative Medicine of Ministry of Education, Jinan University, Guangzhou, 510632, People's Republic of China.
Int J Gen Med. 2024 Apr 29;17:1707-1712. doi: 10.2147/IJGM.S461561. eCollection 2024.
There have been several studies regarding the susceptibility of gene SNPs (rs2230926 and rs5029937) in rheumatoid arthritis (RA). However, little is known about the association between polymorphisms in the promoter and RA. The aim of this study was to investigate the characteristics of promoter polymorphisms and the association between these polymorphisms and clinical significance in Chinese RA patients.
PCR and sequencing were used to identify gene polymorphisms in peripheral blood mononuclear cells (PBMCs) from 123 RA cases and 31 healthy individuals.
Only one SNP (rs5029924) in the gene promoter was identified in RA patients and healthy individuals. 6 patients who carried heterozygous rs5029924 (3918C>T) together with heterozygous rs5029937 (11,571 G>T) and rs2230926 (12,486 T>G, Phe127Cys) suffered from joints deformity or refractory RA.
We reported the promoter polymorphism rs5029924 in RA patients for the first time. rs5029924 concomitant with rs2230926 and rs5029937 may be a prognostic predictor for joint deformity or refractory RA.
关于类风湿关节炎（RA）中基因单核苷酸多态性（rs2230926和rs5029937）的易感性已有多项研究。然而，对于启动子多态性与RA之间的关联知之甚少。本研究的目的是调查中国RA患者启动子多态性的特征以及这些多态性与临床意义之间的关联。
采用聚合酶链反应（PCR）和测序技术鉴定123例RA患者和31名健康个体外周血单个核细胞（PBMC）中的基因多态性。
在RA患者和健康个体中仅鉴定出基因启动子中的一个单核苷酸多态性（rs5029924）。6例携带杂合子rs5029924（3918C>T）以及杂合子rs5029937（11571G>T）和rs2230926（12486T>G，Phe127Cys）的患者出现关节畸形或难治性RA。
我们首次报道了RA患者中的基因启动子多态性rs5029924。rs5029924与rs２２３０９２６和rs5029937共同存在可能是关节畸形或难治性RA的预后预测指标。
