Dahmani Chahinez Amira, Benzaoui Ahmed, Amroun Habiba, Zemani-Fodil Faouzia, Petit-Teixeira Elisabeth, Boudjema Abdallah
Laboratoire de Génétique Moléculaire et Cellulaire/Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf (USTO-MB), Oran, Algeria.
Service de Rhumatologie/Centre Hospitalo-universitaire d'Oran (CHUO), Oran, Algeria.
Int J Immunogenet. 2019 Dec;46(6):437-443. doi: 10.1111/iji.12454. Epub 2019 Aug 21.
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.
在阿尔及利亚人群中探索了众多单核苷酸多态性（SNP），以评估与强直性脊柱炎（AS）相关的遗传风险因素，但尚无研究确定拷贝数变异（CNV）的影响。本研究的目的是确定CCL3L1、FCGR3A和FCGR3B基因的CNV是否也与阿尔及利亚人群中AS疾病的易感性相关。本研究的数据集由81例AS患者和119例健康对照组成。所有样本均通过数字液滴PCR（ddPCR）进行基因分型。采用卡方检验和OR计算来评估CNV与AS之间的关联以及与拷贝数（CN）相关的风险。结果显示，脊柱炎患者中FCGR3A的拷贝数少于两个（<2）显著增加（p = .0001，OR = 7.74 [2.32 - 25.74]）。此外，FCGR3A拷贝数<2的关联仅在HLA - B27（-）患者中存在。我们得出结论，FCGR3A缺失对AS具有独立于HLA - B27状态的影响。这是第一项研究CCL3L1的CNV与AS风险疾病关系的研究。研究表明，CCL3L1和FCGR3B的CNV可能不参与阿尔及利亚人群中AS风险的易感性。
