Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population. 2016

D Bi, and H Wang, and Q Shang, and Y Xu, and F Wang, and M Chen, and C Ma, and Y Sun, and X Zhao, and C Gao, and L Wang, and C Zhu, and Q Xing
Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D002547 Cerebral Palsy A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7) Diplegic Infantile Cerebral Palsy,Little Disease,Monoplegic Cerebral Palsy,Quadriplegic Infantile Cerebral Palsy,Spastic Diplegia,CP (Cerebral Palsy),Cerebral Palsy, Athetoid,Cerebral Palsy, Atonic,Cerebral Palsy, Congenital,Cerebral Palsy, Diplegic, Infantile,Cerebral Palsy, Dyskinetic,Cerebral Palsy, Dystonic-Rigid,Cerebral Palsy, Hypotonic,Cerebral Palsy, Mixed,Cerebral Palsy, Monoplegic, Infantile,Cerebral Palsy, Quadriplegic, Infantile,Cerebral Palsy, Rolandic Type,Cerebral Palsy, Spastic,Congenital Cerebral Palsy,Diplegia, Spastic,Infantile Cerebral Palsy, Diplegic,Infantile Cerebral Palsy, Monoplegic,Infantile Cerebral Palsy, Quadriplegic,Little's Disease,Monoplegic Infantile Cerebral Palsy,Rolandic Type Cerebral Palsy,Athetoid Cerebral Palsy,Atonic Cerebral Palsy,Cerebral Palsies, Athetoid,Cerebral Palsies, Dyskinetic,Cerebral Palsies, Dystonic-Rigid,Cerebral Palsies, Monoplegic,Cerebral Palsy, Dystonic Rigid,Cerebral Palsy, Monoplegic,Diplegias, Spastic,Dyskinetic Cerebral Palsy,Dystonic-Rigid Cerebral Palsies,Dystonic-Rigid Cerebral Palsy,Hypotonic Cerebral Palsies,Hypotonic Cerebral Palsy,Mixed Cerebral Palsies,Mixed Cerebral Palsy,Monoplegic Cerebral Palsies,Spastic Cerebral Palsies,Spastic Cerebral Palsy,Spastic Diplegias
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor

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