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首页> 外文期刊>International journal of immunogenetics >Association study of copy number variants in CCL3L1, FCGR3A CCL3L1, FCGR3A and FCGR3B FCGR3B genes with risk of ankylosing spondylitis in a West Algerian population
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Association study of copy number variants in CCL3L1, FCGR3A CCL3L1, FCGR3A and FCGR3B FCGR3B genes with risk of ankylosing spondylitis in a West Algerian population

机译：CCL3L1，FCGR3A CCL3L1，FCGR3A和FCGR3B FCGR3B基因拷贝数变体与西阿尔及利亚人群强直性脊柱炎风险的拷贝数变体研究

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Abstract 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.
机译：摘要摘要在阿尔及利亚人口中探讨了许多单一核苷酸多态性（SNP），以评估相关的强直性脊柱炎（AS）遗传危险因素，但没有研究鉴定了拷贝数变异（CNV）的影响。该研究的目的是确定CCL3L1，FCGR3A和FCGR3B基因的CNV是否与阿尔及利亚人群疾病的易感性有关。目前研究的数据集由81名具有119名健康对照组成。所有样品均由数字液滴PCR（DDPCR）进行基因分型。 Chi-Square测试和或计算用于评估CNV和与拷贝数（CN）相关的风险。在结果中，在脊柱炎患者中少于两个拷贝（＆lt 2）的Fcgr3a cn（p？= 0001，或？=α.74[2.32-25.74]）。此外，Fcgr3a cnααsαα，仅在HLA-B27（ - ）患者中存在。我们已经得出结论，FCGR3A删除对HLA-B27状态有一个独立的效果。这是第一项研究，研究了与风险疾病相关的CCL3L1 CNV。它揭示了CCL3L1和FCGR3B CNV可能不会涉及作为阿尔及利亚人群风险的易感性。

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