Bi D, Wang H, Shang Q, Xu Y, Wang F, Chen M, Ma C, Sun Y, Zhao X, Gao C, Wang L, Zhu C, Xing Q
Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Clin Genet. 2016 Aug;90(2):149-55. doi: 10.1111/cge.12723. Epub 2016 Feb 9.
The basement membrane (BM) is an extracellular matrix associated with overlying cells and is important for proper tissue development, stability, and physiology. COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable phenotypes that might be related to cerebral palsy (CP). We postulated, therefore, that variations in the COL4A1 gene might play an important role in the etiology of CP. In this study, six single nucleotide polymorphisms (SNPs) in the COL4A1 gene were genotyped among 351 CP patients and 220 healthy controls from the Chinese Han population. Significant association was found for an association between CP and rs1961495 (allele: p = 0.008, odds ratio (OR) = 1.387, 95% confidence interval (CI) = 1.088-1.767) and rs1411040 (allele: p = 0.009, OR = 1.746, 95% CI = 1.148-2.656) SNPs of the COL4A1 gene. Multifactor dimensionality reduction analysis suggested that these SNPs had interactive effects on the risk of CP. This study is the first attempt to investigate the contribution of polymorphisms in the COL4A1 gene to the susceptibility of CP in a Chinese Han population. This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP.
基底膜（BM）是一种与覆盖其上的细胞相关的细胞外基质，对组织的正常发育、稳定性和生理学功能至关重要。COL4A1是基底膜中IV型胶原蛋白最丰富的成分，COL4A1基因变异可表现出与脑瘫（CP）可能相关的多种表型。因此，我们推测COL4A1基因变异可能在CP的病因学中起重要作用。在本研究中，对351例来自中国汉族人群的CP患者和220例健康对照进行了COL4A1基因的6个单核苷酸多态性（SNP）基因分型。发现CP与COL4A1基因的rs1961495（等位基因：p = 0.008，优势比（OR）= 1.387，95%置信区间（CI）= 1.088 - 1.767）和rs1411040（等位基因：p = 0.009，OR = 1.746，95% CI = 1.148 - 2.656）SNP之间存在显著关联。多因素降维分析表明这些SNP对CP风险具有交互作用。本研究首次尝试探讨COL4A1基因多态性对中国汉族人群CP易感性的影响。该研究显示COL4A1基因与CP有关联，并提示COL4A1在CP发病机制中可能发挥的作用。
