The relationship between gene polymorphisms and the pathogenesis of cerebral palsy (CP) is uncovering recently. Here, we suggested that single nucleotide polymorphisms (SNPs) of MLEC gene might take part in the pathogenesis of CP. We genotyped and analyzed 6 SNP positions of MLEC gene in 916 CP patients and 957 healthy people, which are from the Chinese Han population. The results indicated significant associations between the risk of CP and rs10431386 [allele: P‐value = .006, odds ratio (OR) = 1.587, 95% confidence interval (CI) = 1.198‐1.967] and rs7964786 [allele: P‐value = .005, OR = 1.956, 95% CI = 1.238‐2.519] SNP positions of MLEC gene. Further investigations revealed that C alleles of rs10431386 and rs7964786 inhibit the expression of MLEC in blood of CP patients and macrophage cell line. in vitro experiments revealed that MLEC promotes M1 to M2 macrophage polarization. The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes CP by inhibiting M1 to M2 macrophage polarization. Generally, this work suggested the contribution of MLEC gene polymorphisms to the pathogenesis of CP.
Clinical Genetics – Wiley
Published: Jan 1, 2018
Keywords: ; ;
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