Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Dis Markers. 2020 Oct 7;2020:7189626. doi: 10.1155/2020/7189626. eCollection 2020.
Copy number variation (CNV) is a structural variation in the human genome that has been associated with multiple clinical phenotypes. B cells are important components of rheumatoid arthritis- (RA-) mediated immune response; hence, CNV in the regulators of B cells (such as VPREB1) can influence RA susceptibility. In this study, we aimed to explore the association of CNV in the gene with RA susceptibility in the Pakistani population.
A total of 1,106 subjects (616 RA cases, 490 healthy controls) were selected from three rheumatology centers in Pakistan. CNV was determined using the TaqMan® CN assay (Hs02879734_cn, Applied Biosystems, Foster City, CA, USA), and CNV was estimated by using CopyCaller® (version 2.1; Applied Biosystems, USA) software. Odds ratio (OR) was calculated by logistic regression with sex and age as covariates in .
A significant association between >2 CNV and RA risk was observed with an OR of 3.92 (95% CI: 1.27 - 12.12; = 0.01746) in the total sample. Whereas <2 CNV showed a significantly protective effect against RA risk in women with an OR of 0.48 (95% CI: 0.29-0.79; = 0.00381).
CNV > 2 of is a risk factor for RA in the total Pakistani population, while CNV < 2 is protective in women.
拷贝数变异（CNV）是人类基因组中的一种结构性变异，与多种临床表型有关。B 细胞是类风湿关节炎（RA）介导免疫反应的重要组成部分；因此，B 细胞调节因子（如 VPREB1）中的 CNV 可以影响 RA 的易感性。在这项研究中，我们旨在探讨巴基斯坦人群中 基因 CNV 与 RA 易感性的关联。
从巴基斯坦的三个风湿病中心选择了 1106 名受试者（616 名 RA 病例，490 名健康对照）。使用 TaqMan®CN 测定法（Hs02879734_cn，Applied Biosystems，Foster City，CA，USA）确定 CNV，并使用 CopyCaller®（版本 2.1；Applied Biosystems，USA）软件估计 CNV。在 中，使用逻辑回归计算了性别和年龄为协变量的 OR。
在总样本中，观察到 >2 CNV 与 RA 风险之间存在显著关联，OR 为 3.92（95%CI：1.27-12.12； = 0.01746）。而 <2 CNV 显示出对女性 RA 风险的显著保护作用，OR 为 0.48（95%CI：0.29-0.79； = 0.00381）。
在巴基斯坦总人口中， >2 的 CNV 是 RA 的危险因素，而 <2 的 CNV 对女性具有保护作用。
