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中国人群骨桥蛋白基因多态性与脑瘫的相关性研究。

Association Between Osteopontin Gene Polymorphisms and Cerebral Palsy in a Chinese Population.

机构信息

Zhengzhou Children's hospital, Zhengzhou, 450053, People's Republic of China.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, 131 Dongan Road, Shanghai, 200032, People's Republic of China.

出版信息

Neuromolecular Med. 2016 Jun;18(2):232-8. doi: 10.1007/s12017-016-8397-7. Epub 2016 Apr 25.

Abstract

Cerebral palsy (CP) is a neurological disorder affecting movement and posture that develops as a complication of prenatal, perinatal, and postnatal brain injury. Such non-progressive brain injury is often accompanied by neonatal encephalopathy and inflammation. The widely expressed soluble cytokine osteopontin (OPN) plays an important role in inflammation and neurological protection. Therefore, it is of great interest to study the relationship between CP and genetic variants of OPN. To explore the genetic association between OPN gene single nucleotide polymorphisms (SNPs) and CP in the Chinese Han population, five SNPs (rs2853744, rs2853749, rs11728697, rs4754, and rs1126616) were genotyped among 715 CP patients and 658 healthy controls using the MassArray platform. Statistical analysis was performed using the online SHEsis program, and Bonferroni correction was applied as necessary. We found an association between rs1126616 and global CP (corrected allelic P = 0.0006 and genotypic P = 0.0011 after Bonferroni correction). The other SNPs were not statistically associated with CP or any of its subgroups. By testing a relatively large sample size, our study demonstrates that the OPN gene SNP rs1126616 is statistically associated with CP. We suspect that the OPN gene might be a susceptibility factor for CP.

摘要

脑性瘫痪(CP)是一种影响运动和姿势的神经发育障碍,是产前、围产期和产后脑损伤的并发症。这种非进行性脑损伤常伴有新生儿脑病和炎症。广泛表达的可溶性细胞因子骨桥蛋白(OPN)在炎症和神经保护中发挥重要作用。因此,研究 CP 与 OPN 基因变异之间的关系具有重要意义。为了探讨 OPN 基因单核苷酸多态性(SNPs)与中国汉族人群 CP 的遗传相关性,采用 MassArray 平台对 715 例 CP 患者和 658 例健康对照者的 5 个 SNPs(rs2853744、rs2853749、rs11728697、rs4754 和 rs1126616)进行基因分型。采用在线 SHEsis 程序进行统计分析,并根据需要进行 Bonferroni 校正。我们发现 rs1126616 与全球 CP 之间存在关联(Bonferroni 校正后校正等位基因 P=0.0006,基因型 P=0.0011)。其他 SNP 与 CP 或其任何亚组均无统计学关联。通过检测相对较大的样本量,我们的研究表明 OPN 基因 SNP rs1126616 与 CP 存在统计学关联。我们怀疑 OPN 基因可能是 CP 的易感因素。

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