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中国人群中常见的 KIF21B 变异与强直性脊柱炎的关联:一项复制研究。

Association of common variants in KIF21B and ankylosing spondylitis in a Chinese Han population: a replication study.

机构信息

Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan, Shandong, 250012, China.

出版信息

Immunogenetics. 2013 Dec;65(12):835-9. doi: 10.1007/s00251-013-0733-6. Epub 2013 Sep 25.

Abstract

KIF21B polymorphisms were found associated with susceptibility to multiple sclerosis and ankylosing spondylitis (AS) in populations of white European ancestry. We aimed to replicate the association of polymorphisms around KIF21B and AS in a Chinese Han population. This case-control study included 665 patients with AS and 1,042 healthy controls genotyped for seven single nucleotide polymorphisms (SNPs) of KIF21B--rs12118246, rs4915464, rs502658, rs10494829, rs12089839, rs6687260, and rs957957--by TaqMan genotyping assay; statistical analyses involved the use of PLINK. We also estimated the linkage disequilibrium and haplotypes of these SNPs. Two SNPs--rs502658 (allelic p = 0.0002, odds ratio [OR] 0.60, 95 % confidence interval [95 % CI] 0.47-0.76) and rs10494829 (allelic p = 0.003, OR 1.30, 95 % CI 1.12-1.52)--were significantly associated with AS in the Chinese Han population. In addition, a linear regression test showed that they have independent contribution to disease susceptibility. For both SNPs, haplotype AT was strongly associated with AS and increased the risk of the disease (p = 0.045, OR 1.183, 95 % CI 1.004-1.395), and the genotype GC reduced the risk (p = 0.011, OR 0.715, 95 % CI 0.55-0.928). This work identified a significant association of two SNPs in KIF21B and AS in the Chinese Han population. KIF21B may play an important role in the pathogenesis of AS in the Chinese population and might be a new therapeutic target for AS.

摘要

KIF21B 多态性与白种欧洲人群多发性硬化症和强直性脊柱炎 (AS) 的易感性相关。我们旨在复制 KIF21B 周围多态性与中国汉族人群 AS 之间的关联。这项病例对照研究纳入了 665 例 AS 患者和 1042 名健康对照,通过 TaqMan 基因分型检测了 KIF21B 中的 7 个单核苷酸多态性 (SNP) 的 rs12118246、rs4915464、rs502658、rs10494829、rs12089839、rs6687260 和 rs957957 的基因型;统计分析涉及使用 PLINK。我们还估计了这些 SNP 的连锁不平衡和单倍型。两个 SNP-rs502658(等位基因 p=0.0002,比值比 [OR]0.60,95%置信区间 [95%CI]0.47-0.76)和 rs10494829(等位基因 p=0.003,OR1.30,95%CI1.12-1.52)-在汉族人群中与 AS 显著相关。此外,线性回归测试表明,它们对疾病易感性有独立的贡献。对于这两个 SNP,单倍型 AT 与 AS 强烈相关并增加疾病风险(p=0.045,OR1.183,95%CI1.004-1.395),基因型 GC 降低风险(p=0.011,OR0.715,95%CI0.55-0.928)。这项工作鉴定了 KIF21B 中的两个 SNP 与中国汉族人群中的 AS 之间存在显著关联。KIF21B 可能在中国人群中 AS 的发病机制中发挥重要作用,可能成为 AS 的新治疗靶点。

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