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首页> 外文期刊>International journal of immunogenetics >Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations.
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Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations.

机译：在法国和突尼斯人群中，CARD8（p.C10X）和NLRP3（p.Q705K）变体与类风湿关节炎的关联研究。

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The objective of the study was to investigate the association of caspase activating and recruitment domain 8 (CARD8) and nucleotide-binding oligomerization domain, leucine-rich repeat and pyrin domain containing 3 (NLRP3) polymorphisms with rheumatoid arthritis (RA) in Tunisian and French populations. CARD8 (c.30T>A, rs2043211) and NLRP3 (c.2113C>A, rs35829419) single nucleotide polymorphisms (SNPs) were genotyped in 100 French RA trio families and 141 Tunisian patients with RA and 191 unrelated healthy controls, using TaqMan(?) allelic discrimination assay. The genetic analyses for the association and linkage in French families were performed using the comparison of allelic frequencies (AFBAC), the genotype relative risk (GRR) and the transmission disequilibrium test (TDT). Data for case and control samples were analysed by chi-square-test, GRR and odds ratio (OR). No significant differences between alleles and genotypes frequencies were detected in French trio and Tunisian patients with RA and controls, either with CARD8 or with NLRP3 SNPs both in French and in Tunisian populations. Moreover, stratifying patients according to the presence of rheumatoid factor (RF), anti-cyclic peptides antibodies (ACPA), erosion, nodules, other autoimmune disease or HLA-DRB1*04-positive subgroups did not show any significant association with CARD8 or NLRP3 (P ≥ 0.05). This study suggests that variations in the innate immunity genes CARD8 (p.C10X) and NLRP3 (p.Q705K) have no effect on RA susceptibility either in the Tunisian or in the French population.
机译：该研究的目的是研究突尼斯和法国的类风湿关节炎（RA）与caspase激活和募集结构域8（CARD8）和核苷酸结合寡聚结构域，富含亮氨酸的重复序列以及含有3（NLRP3）多态性的吡喃结构域的关联。人口。使用TaqMan（ ？）等位基因鉴别测定。使用等位基因频率（AFBAC），基因型相对风险（GRR）和传播不平衡测试（TDT）进行比较，对法国家庭的关联和连锁进行了遗传分析。通过卡方检验，GRR和比值比（OR）分析病例和对照样品的数据。在法国和突尼斯人群的CARD8或NLRP3 SNPs的法国三重性和突尼斯RA和对照患者中，等位基因和基因型频率之间没有发现显着差异。而且，根据类风湿因子（RF），抗环肽抗体（ACPA），糜烂，结节，其他自身免疫性疾病或HLA-DRB1 * 04阳性亚组的存在对患者进行分层未显示与CARD8或NLRP3有任何显着关联（P≥0.05）。这项研究表明，先天免疫基因CARD8（p.C10X）和NLRP3（p.Q705K）的变异对突尼斯或法国人群的RA易感性没有影响。

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