Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: A case-control study
Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: A case-control study
复制标题
白细胞介素6基因多态性与男性痉挛性四肢瘫痪遗传易感性的关联：病例对照研究
DOI：
10.1016/j.cyto.2013.01.011
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发表时间：
2013-03-01
期刊：
影响因子：
3.8
通讯作者：
Xing, Qinghe
中科院分区：
文献类型：
--
作者：
Chen, Mingjie;Li, Tongchuan;Xing, Qinghe
背景：脑瘫（CP）是一组非进行性运动障碍和永久性疾病，导致活动受限和异常姿势。它可能由感染（如绒毛膜羊膜炎）、窒息或多种遗传因素引起。白细胞介素6基因（IL6）作为一种促炎细胞因子参与了CP的易感性。目的：探讨中国人群中il - 6基因多态性与CP的遗传关系。方法：本研究共招募542例CP患者和483例健康对照儿童，检测il - 6位点的5个单核苷酸多态性（rs1800796、rs2069837、rs2066992、rs2069840和rs10242595）。采用基于MassArray平台的基因分型方法对snp进行基因分型。应用SHEsis程序对基因分型数据进行分析。结果：在5个选择的snp中，CP患者和对照组之间没有发现显著的等位基因和基因型关联。然而，亚组分析发现，与对照组相比，男性痉缩性四肢瘫患者的等位基因频率在rs1800796 （OR = 1.39, P = 0.033， SNPSpD校正后P = 0.099）和rs2069837 （OR = 1.58, P = 0.012， SNPSpD校正后P = 0.035）之间存在显著差异。男性痉挛性四肢瘫患者rs1800796的C等位基因和rs2069837的A等位基因的频率高于对照组。两个单倍型rs1800796 (G) - rs2069837 (G)也与男性痉挛性四肢瘫痪风险降低相关（OR = 0.619, P = 0.009，经Bonferroni校正后P = 0.027）。结论：IL6基因的遗传变异可能影响男性痉挛性四肢瘫痪的易感性，其在脑瘫中的作用值得在大规模、精心设计的研究中进一步评估。(C) 2013 Elsevier Ltd.版权所有。
Background: Cerebral palsy (CP) is a group of non-progressive motor impairment and permanent disorders causing limitation of activity and abnormal posture. It may be caused by infection (such as chorioamnionitis), asphyxia or multiple genetic factors. The Interleukin 6 gene (IL6) was suggested to be involved in the susceptibilities to CP risk as a kind of proinflammatory cytokine.Objective: To explore the genetic association between the polymorphisms of the IL6 gene and CP in the Chinese population.Methods: A total of 542 CP patients and 483 healthy control children were recruited in this study to detect five single nucleotide polymorphisms (rs1800796, rs2069837, rs2066992, rs2069840, and rs10242595) in the IL6 locus. Genotyping of SNPs was performed by the MassArray platform-based genotyping approach. The SHEsis program was applied to analyze the genotyping data.Results: Of the five selected SNPs, no significant allelic and genotypic association was found between CP patients and controls. However, subgroup analysis found significant differences in allele frequencies between spastic tetraplegia in males compared with controls at rs1800796 (OR = 1.39, P = 0.033, P = 0.099 after SNPSpD correction) and rs2069837 (OR = 1.58, P = 0.012, P = 0.035 after SNPSpD correction). The frequencies of the C allele of rs1800796 and the A allele of rs2069837 were greater in males with spastic tetraplegia than in the controls. The two SNPs haplotype rs1800796 (G) - rs2069837 (G) were also associated with a decreased risk of spastic tetraplegia in males (OR = 0.619, P = 0.009, P = 0.027 after Bonferroni correction).Conclusion: Genetic variation of the IL6 gene may influence susceptibility to spastic tetraplegia in males and its role in cerebral palsy deserves further evaluation in a large-scale and well-designed study. (C) 2013 Elsevier Ltd. All rights reserved.