Nogo-A基因多态性与中国南方脑瘫的关系:一项病例对照研究

IF 2.3 4区 医学 Q2 DEVELOPMENTAL BIOLOGY
Yuxin Wang, Lu He, Jingyu Huang, Jinling Li, Liru Liu, Yunxian Xu, Tingting Peng, Xubo Yang, Yiting Zhao, Chaoqiong Fu, Shiya Huang, Hongmei Tang, Kaishou Xu
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引用次数: 0

摘要

脑瘫(CP)是一种由发育中的大脑非进行性功能障碍引起的运动和姿势障碍综合征。本研究旨在探讨Nogo-A基因多态性(rs1012603、rs12464595和rs2864052)与中国南方地区CP发病的关系。采用Hardy-Weinberg平衡(HWE)检验、等位基因和基因型频率分析、单倍型关联分析对592例CP患儿和600例对照进行基因分型。结果表明,CP组rs1012603的等位基因频率和基因型频率与对照组有显著差异。单倍型“TTGGG”与CP风险增加显著相关。rs1012603等位基因频率在痉挛性双瘫、女性CP病例和对照组之间存在显著差异。此外,rs1012603和rs12464595的CP GMFCS I和对照之间的等位基因和基因型频率也存在显著差异,rs1012603和rs12464595的ADL与对照之间的等位基因和基因型频率存在显著差异(>9)。本研究发现Nogo-A的snp rs1012603与CP显著相关,在痉挛性双瘫、CP的GMFCS I、CP的ADL(>9)和女性亚组中也存在相关性,提示Nogo-A可能主要影响轻度CP,可能存在性别差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study.

Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study.

Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study.

Cerebral palsy (CP) is a motor and postural disorder syndrome caused by the nonprogressive dysfunction of the developing brain. Previous studies strongly indicated that the Nogo-A gene might be related to the pathogenesis of CP. The objective of this research was to explore the relationship between Nogo-A polymorphisms (rs1012603, rs12464595, and rs2864052) and CP in Southern China. The Hardy-Weinberg equilibrium (HWE) testing, allele and genotype frequencies analysis, and haplotype association analysis were applied to the genotyping of 592 CP children and 600 controls. The results showed that the allele and genotype frequencies of rs1012603 of CP group were significantly different from the control group. The haplotype "TTGGG" was significantly associated with an increased risk of CP. The allele frequencies of rs1012603 were significant differences between CP with spastic diplegia, female CP cases, and controls. Furthermore, significant differences in allele and genotype frequencies were also noticed between GMFCS I of CP and controls for rs1012603, and significant differences in allele and genotype frequencies were observed between the ADL (>9) of CP and controls for rs1012603 and rs12464595. This study showed that the SNPs rs1012603 of Nogo-A were significantly correlated with CP, and the correlations were also found in spastic diplegia, GMFCS I of CP, ADL (>9) of CP, and female subgroups, indicating that Nogo-A might mainly affect mild types of CP and there might be sex-related differences.

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来源期刊
Developmental Neuroscience
Developmental Neuroscience 医学-发育生物学
CiteScore
4.00
自引率
3.40%
发文量
49
审稿时长
>12 weeks
期刊介绍: ''Developmental Neuroscience'' is a multidisciplinary journal publishing papers covering all stages of invertebrate, vertebrate and human brain development. Emphasis is placed on publishing fundamental as well as translational studies that contribute to our understanding of mechanisms of normal development as well as genetic and environmental causes of abnormal brain development. The journal thus provides valuable information for both physicians and biologists. To meet the rapidly expanding information needs of its readers, the journal combines original papers that report on progress and advances in developmental neuroscience with concise mini-reviews that provide a timely overview of key topics, new insights and ongoing controversies. The editorial standards of ''Developmental Neuroscience'' are high. We are committed to publishing only high quality, complete papers that make significant contributions to the field.
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