Association between PPP2CA polymorphisms and clinical features in southwest Chinese systemic lupus erythematosus patients.
Association between PPP2CA polymorphisms and clinical features in southwest Chinese systemic lupus erythematosus patients.
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PPP2CA多态性与西南地区系统性红斑狼疮患者临床特征的相关性
DOI：
10.1097/md.0000000000011451
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发表时间：
2018-07
期刊：
影响因子：
1.6
通讯作者：
Wang L
中科院分区：
文献类型：
--
作者：
Zhang J;Meng Y;Wu H;Wu Y;Yang B;Wang L
越来越多的证据支持蛋白磷酸酶2A（PP 2A）的催化亚基（PP 2Ac）参与系统性红斑狼疮（SLE）的发病机制。本研究旨在探讨PPP 2CA基因单核苷酸多态性（SNPs）与SLE易感性、血清细胞因子水平及临床特征的关系。对1509名汉族受试者（730例SLE患者和779名健康人）进行了病例对照关联研究。采用聚合酶链反应-高分辨率熔解（PCR-HRM）试验对PPP 2CA（rs 10491322和rs7704116）的遗传变异体进行基因分型。在SLE患者队列中，我们观察到rs 10491322和rs7704116正性增加SLE易感性（OR = 1.61，95%CI = 1.13-2.31，P = 0.009; OR = 1.59，95%CI = 1.17-2.15，P = 0.003）。 有趣的是，AG基因型rs 10491322携带者比AA基因型携带者呈现更高的IL-6（P <.001）和IL-17（P <.001）。 具体而言，携带rs 10491322 G* 等位基因导致SLE患者关节炎的患病率较高（P =.01）。 这项研究证明了PPP 2CA（rs 10491322和rs7704116）与中国汉族人群中SLE易感性的相关性。PPP 2CA rs 10491322等位基因作为SLE的危险因子与SLE的免疫功能紊乱相关。
Abstract Increasing evidence supports the involvement of a catalytic subunit (PP2Ac) of protein phosphatase 2A (PP2A) in the mechanisms of systemic lupus erythematosus (SLE). This study was conducted to explore the association single nucleotide polymorphisms (SNPs) of PPP2CA with SLE susceptibility, serum cytokines levels, and clinical features in a Chinese Han population. A case–control association study was carried out in 1509 Chinese Han subjects (730 SLE patients and 779 healthy individuals). Genotyping for genetic variants of PPP2CA (rs10491322 and rs7704116) was performed using a polymerase chain reaction-high resolution melting (PCR-HRM) assay. In the cohort of SLE patients, we observed that rs10491322 and rs7704116 were positively increased SLE susceptibility (OR = 1.61, 95% CI = 1.13–2.31, P = .009; OR = 1.59, 95% CI = 1.17-2.15, P = .003, respectively). Interestingly, the AG genotype of rs10491322 carriers presented higher IL-6 (P < .001) and IL-17 (P < .001) than those with AA genotype carriers. Specifically, carriage of the rs10491322 G* allele led to a higher prevalence of arthritis in SLE patients (P = .01). This study demonstrated an association of PPP2CA (rs10491322 and rs7704116) with SLE susceptibility in a Chinese Han population. Furthermore, the minor allele of PPP2CA rs10491322 as a risk factor was correlated with immunologic disorders for SLE.