脐血中微粒体环氧化物水解酶基因多态性与维汉新生儿低出生体重的关联性

Correlation analysis of microsomal epoxide hydrolase gene polymorphism in cord blood and low birth weight in the Han and Uygur newborns

目的探讨乌鲁木齐市维吾尔族与汉族新生儿脐带血中微粒体环氧化物水解酶(EPHX1)基因多态性与低出生体重(LBW)的关系。方法采用病例对照研究方法,收集出生体重<2 500 g的单胎足月新生儿96例作为病例组,出生体重2 500~4 000 g的单胎足月新生儿208例作为对照组,采集所有新生儿脐带血并提取DNA,通过华大基因Wafer Gen平台的4-primer Sequencer-ready建库方法检测EPHX1基因两个位点的基因多态性。对LBW组和正常组基因型频率、等位基因频率的比较采用χ~2检验,采用SHEsis在线软件进行Hardy-Weinberg平衡检验,并进行单倍型分析。结果 EPHX1基因His139Arg和Ile181Ser两个SNP位点基因型分布均符合Hardy-Weinberg平衡(P>0.05)。汉族及维吾尔族中Ile181Serw位点的TG基因型及汉族G等位基因可降低LBW发生的危险性;His139Arg和Ile181Ser位点多态性存在联合作用,与野生型AA/TT基因型组合比较,AA/TG基因型组合可降低LBW的危险性。汉族中携带A-G单体型的新生儿发生LBW的危险降低,而携带G-T单体型的新生儿发生LBW的风险增高。维吾尔族中单倍型分析结果无意义。结论 LBW的发生与His139Arg多态性无相关性,而与Ile181Ser多态性有关,但其机制尚待进一步研究。

[Objective] To explore the relationship between microsomal epoxide hydrolase（EPHX1） gene polymorphism in umbilical cord blood low birth weight（LBW）in the Han and Uygur newborns.[Methods]By case-control study methods,96 cases of singleton full-term newborns whose birth weight 2 500 g were selected as case group,and 208 cases of singleton full-term newborns whose birth weight 2 500-4 000 g were selected as control group. The cord blood was collected and DNA was extracted.The gene polymorphism of two loci of EPHX1 was detected by 4-primer Sequencer-ready construction method of Wafer Gen platform.The frequencies of genotype and allele frequencies of LBW group and normal group were compared by 2 test,Hardy-Weinberg balance test and haplotype analysis were carried out by SHEsis online software.[Results]The genotype distributions of His139 Arg and Ile181 Ser SNPs of EPHX1 gene were in Hardy-Weinberg equilibrium（P〉0.05）. TG genotype of Ile181 Serw locus in Han and Uygur populations and G allele in Han populations could reduce the risk of LBW. There was a combination effect between His139 Arg and Ile181 Ser polymorphisms. Compared with wild genotype AA/TT,AA/TG genotype combination could reduce the risk of LBW. The risk of LBW of newborns with A-G haplotype in the Han population was decreased,but with G-T haplotype was increased. The results of haplotype analysis in Uygur were not significant. [Conclusion]There was no correlation between LBW and His139 Arg polymorphism,but has correlation between the Ile181 Ser polymorphism,and its mechanism needs to be studied further.