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首页> 外文期刊>BMC Medical Genomics >Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study
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Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study

机译：汉族人群NOS1基因多态性与脑瘫的关系：病例对照研究

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Cerebral palsy (CP) is the leading cause of motor disability in children; however, its pathogenesis is unknown in most cases. Growing evidence suggests that Nitric oxide synthase 1 (NOS1) is involved in neural development and neurologic diseases. The purpose of this study was to determine whether genetic variants of NOS1 contribute to CP susceptibility in a Han Chinese population. A case-control study involving 652 CP patients and 636 healthy controls was conducted. Six SNPs in the NOS1 gene (rs3782219, rs6490121, rs2293054, rs10774909, rs3741475, and rs2682826) were selected, and the MassARRAY typing technique was applied for genotyping. Data analysis was conducted using SHEsis online software, and multiple test corrections were performed using SNPSpD online software. There were no significant differences in genotype and allele frequencies between patients and controls for the SNPs except rs6490121, which deviated from Hardy-Weinberg equilibrium and was excluded from further analyses. Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP?+?NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p?=?0.004, 0.012, and 0.002, respectively). The T allele of NOS1 SNP rs3782219 was negatively associated with spastic quadriplegia (OR?=?0.742, 95% CI?=?0.600–0.918, after SNPSpD correction, p?=?0.023). There were no differences in allele or genotype frequencies between CP subgroups and controls for the other genetic polymorphisms. NOS1 is associated with CP?+?NE and spastic quadriplegia, suggesting that NOS1 is likely involved in the pathogenesis of CP and that it is a potential therapeutic target for treatment of cerebral injury.
机译：脑瘫（CP）是儿童运动障碍的主要原因。然而，在大多数情况下其发病机理是未知的。越来越多的证据表明，一氧化氮合酶1（NOS1）与神经发育和神经系统疾病有关。本研究的目的是确定NOS1的遗传变异是否有助于汉族人群CP易感性。进行了一项病例对照研究，涉及652名CP患者和636名健康对照。选择了NOS1基因中的六个SNP（rs3782219，rs6490121，rs2293054，rs10774909，rs3741475和rs2682826），并将MassARRAY分型技术应用于基因分型。使用SHEsis在线软件进行数据分析，并使用SNPSpD在线软件进行多次测试校正。除rs6490121偏离Hardy-Weinberg平衡并被排除在进一步分析之外，SNP的患者与对照之间在基因型和等位基因频率上无显着差异。亚组分析显示，rs10774909，rs3741475和rs2682826（分别为SNPSpD校正后，p？分别为0.004、0.012和0.002）与新生儿脑病组（CPα+ΔNE）和对照组的CP基因型频率之间存在差异。 NOS1 SNP rs3782219的T等位基因与痉挛性四肢瘫痪呈负相关（SNPSpD校正后，OR？=？0.742，95％CI？=？0.600-0.918，p？=？0.023）。 CP亚组与其他遗传多态性对照之间的等位基因或基因型频率没有差异。 NOS1与CPβ+ΔNE和痉挛性四肢瘫痪有关，提示NOS1可能与CP的发病有关，它是治疗脑损伤的潜在治疗靶标。

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