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

Bi D1, Wang H2, Shang Q3, Xu Y1, Wang F4, Chen M2, Ma C3, Sun Y1, Zhao X2, Gao C3, Wang L2, Zhu C1,5, Xing Q2.

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Abstract

The basement membrane 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 basement membrane, 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 the present 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 the rs1961495 (Allele: P = 0.008, OR = 1.387, 95% 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. Our 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.