Central Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou, China.
Prenatal Diagnosis Center, Taizhou Hospital of Zhejiang Province, Taizhou, China.
Clin Genet. 2018 Apr;93(4):794-799. doi: 10.1111/cge.13149. Epub 2018 Jan 25.
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.
基因突变与脑瘫（CP）发病机制的关系最近被揭示。在这里，我们提出 MLEC 基因的单核苷酸多态性（SNP）可能参与 CP 的发病机制。我们对 916 名 CP 患者和 957 名健康人的 MLEC 基因的 6 个 SNP 位置进行了基因分型和分析，这些人来自汉族人群。结果表明，CP 风险与 MLEC 基因的 rs10431386 [等位基因：P 值 = .006，比值比（OR） = 1.587，95%置信区间（CI） = 1.198-1.967]和 rs7964786 [等位基因：P 值 = .005，OR = 1.956，95% CI = 1.238-2.519]SNP 位置显著相关。进一步的研究表明，rs10431386 和 rs7964786 的 C 等位基因抑制 CP 患者和巨噬细胞系血液中 MLEC 的表达。体外实验表明，MLEC 促进 M1 向 M2 巨噬细胞极化。体外研究的结果表明，MLEC 基因 rs10431386 和 rs7964786 的 C 等位基因通过抑制 M1 向 M2 巨噬细胞极化促进 CP 的发生。总的来说，这项工作表明 MLEC 基因多态性对 CP 发病机制的贡献。
