Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population
Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population
复制标题
PARD3基因多态性与中国汉族人群神经管缺陷的关联研究
DOI：
10.1177/1933719111433886
复制
发表时间：
2012-07-01
影响因子：
2.9
通讯作者：
Zhang, Ting
中科院分区：
文献类型：
--
作者：
Gao, Yonghui;Chen, Xiaoli;Zhang, Ting
分割缺陷3同源基因(PARD3)是筛查神经管缺陷(NTD)的候选基因。为探讨PARD3基因变异在神经管疾病风险中的作用，在中国地区进行了一项病例对照研究。对224例NTDS胎儿和253例正常胎儿的PARD3基因共53个单核苷酸多态性(SNPs)进行了基因分型。我们发现6个SNP(rs2496720、rs2252655、rs3851068、rs118153230、rs10827337和rs12218196)与NTDS有统计学关联(P<；0.05)。根据NTD表型对参与者进行分层后，这种显著的相关性仅存在于无脑儿而不是脊柱裂的病例。进一步的单倍型分析证实了PARD3基因多态与NTD风险之间的关联(全局检验P=3.41e-008)。我们的结果提示，PARD3基因变异与中国汉族人群对NTDS的易感性有关，并且这种关联受NTD表型的影响。
Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.