title: Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.
abstract: 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.
authors.affiliation: Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
authors.forename: D
authors.initials: D
authors.lastname: Bi
authors.affiliation: Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Zhengzhou Children's Hospital, Zhengzhou, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Shang
authors.affiliation: Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Neurosurgery, Tongji Hospital, Tongji University, Shanghai, China.
authors.forename: F
authors.initials: F
authors.lastname: Wang
authors.affiliation: Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: M
authors.initials: M
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, Zhengzhou Children's Hospital, Zhengzhou, China.
authors.forename: C
authors.initials: C
authors.lastname: Ma
authors.affiliation: Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: X
authors.initials: X
authors.lastname: Zhao
authors.affiliation: Department of Pediatrics, Zhengzhou Children's Hospital, Zhengzhou, China.
authors.forename: C
authors.initials: C
authors.lastname: Gao
authors.affiliation: Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.|Center for Brain Repair and Rehabilitation, University of Gothenburg, Gothenburg, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Zhu
authors.affiliation: Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Xing
mesh_terms: D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002547:Cerebral Palsy / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D058011:Multifactor Dimensionality Reduction; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: COL4A1; SNP; cerebral palsy; genotyping