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IκB激酶β(IKBKB)和聚合酶β(POLB)的基因变异与中国汉族人群系统性红斑狼疮风险无关。

Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population.

作者信息

Li Yuan, Wu Ziyan, Zhang Shulan, Chen Si, Li Ping, Li Jing, Cao Chongwei, Liu Bin, Zhang Fengchun, Li Yongzhe

机构信息

Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 2) Department of Rheumatology, The Affiliated Hospital of Qingdao University, China.

Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.

出版信息

PLoS One. 2015 Jul 13;10(7):e0132556. doi: 10.1371/journal.pone.0132556. eCollection 2015.

Abstract

A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polymerase β (POLB) SNPs and reduced POLB expression, and this was proposed to be an underlying cause of human SLE development. In the current case-control study, we evaluated IKBKB (rs12676482 and rs2272733) and POLB (rs3136717 and rs3136744) SNPs in 946 SLE patients and 961 healthy controls. We investigated the possible association of these four SNPs with SLE in a Chinese Han population using the polymerase chain reaction-ligation detection reaction (PCR-LDR) technique. The differences in the frequencies of the four SNP alleles and the genotypes and haplotypes of the POLB polymorphisms were statistically insignificant when the SLE patients were compared with the controls in the Chinese Han population enrolled in this study (all, p ˃ 0.05). Furthermore, no associations were detected using different genetic models (additive, dominant, and recessive; all, p ˃ 0.05). Our findings indicate that the IKBKB (rs12676482 and rs2272733) and POLB (rs3136717, rs3136744) SNPs confer no genetic predisposition to SLE risk in this Chinese Han population.

摘要

一项先前对全基因组关联研究(GWAS)进行的大规模重复研究验证,在中国汉族人群中确定IκB激酶β(IKBKB)单核苷酸多态性(SNP)是与系统性红斑狼疮(SLE)相关的危险因素。IKBKB SNP与聚合酶β(POLB)SNP相关,并导致POLB表达降低,这被认为是人类SLE发病的潜在原因。在当前的病例对照研究中,我们对946例SLE患者和961例健康对照者进行了IKBKB(rs12676482和rs2272733)以及POLB(rs3136717和rs3136744)SNP的评估。我们使用聚合酶链反应-连接检测反应(PCR-LDR)技术,研究了这四个SNP与中国汉族人群中SLE的可能关联。在本研究纳入的中国汉族人群中,将SLE患者与对照者进行比较时,这四个SNP等位基因的频率、POLB多态性的基因型和单倍型的差异无统计学意义(所有p>0.05)。此外,使用不同遗传模型(加性、显性和隐性;所有p>0.05)均未检测到关联。我们的研究结果表明,IKBKB(rs12676482和rs2272733)以及POLB(rs3136717、rs3136744)SNP在中国汉族人群中不会赋予SLE风险遗传易感性。

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