Numerous single nucleotide polymorphisms (SNPs) were explored in the Algerian population to evaluate associated ankylosing spondylitis (AS) genetic risk factors, but no study has identified the impact of copy number variations (CNVs). The aim of the study was to determine whether CNVs of CCL3L1, FCGR3A and FCGR3B genes were also associated with the susceptibility of AS disease in Algerian population. The data set of the current study is composed of 81 patients with AS and 119 healthy controls. All samples were genotyped by digital droplet PCR (ddPCR). Chi‐square test and OR calculation were used to evaluate association between CNVs and AS and the risk associated with copy numbers (CN). In results, FCGR3A CN less than two copies (<2) was significantly increased in spondylitis patients (p = .0001, OR = 7.74 [2.32–25.74]). Additionally, FCGR3A CN < 2 copies association was present only in HLA‐B27 (‐) patients. We have concluded that FCGR3A deletions have an independent effect on AS regarding HLA‐B27 status. This is the first study that investigated the CCL3L1 CNVs in relation to AS risk disease. It reveals that CCL3L1 and FCGR3B CNVs may not be involved in susceptibility to AS risk in the Algerian population.

中文翻译：

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CCL3L1、FCGR3A和FCGR3B基因拷贝数变异与阿尔及利亚西部人群强直性脊柱炎风险的关联研究

在阿尔及利亚人群中探索了许多单核苷酸多态性 (SNP) 以评估相关的强直性脊柱炎 (AS) 遗传风险因素，但没有研究确定拷贝数变异 (CNV) 的影响。该研究的目的是确定 CCL3L1、FCGR3A 和 FCGR3B 基因的 CNV 是否也与阿尔及利亚人群中 AS 疾病的易感性有关。当前研究的数据集由 81 名 AS 患者和 119 名健康对照者组成。所有样品均通过数字液滴 PCR (ddPCR) 进行基因分型。卡方检验和 OR 计算用于评估 CNV 和 AS 之间的关联以及与拷贝数（CN）相关的风险。结果，在脊椎炎患者中，少于两个拷贝 (<2) 的 FCGR3A CN 显着增加（p = .0001，OR = 7.74 [2.32–25.74]）。此外，FCGR3A CN < 2 拷贝关联仅存在于 HLA-B27 (-) 患者中。我们已经得出结论，FCGR3A 缺失对 AS 的 HLA-B27 状态具有独立影响。这是第一项研究 CCL3L1 CNV 与 AS 风险疾病相关的研究。它表明 CCL3L1 和 FCGR3B CNV 可能与阿尔及利亚人群对 AS 风险的易感性无关。