Abstract
蒋幼芳,梅瑾,张闻,钱霞,张甦,刘春玲,杨华.母亲MTHFR 677C/T多态性和孕期状况与子代发生先天性心脏病的相关性研究[J].Chinese journal of Epidemiology,2015,36(10):1072-1076
母亲MTHFR 677C/T多态性和孕期状况与子代发生先天性心脏病的相关性研究
Correlation between offspring congenital heart disease and MTHFR 677C/T polymorphism and general status of pregnant women
Received:March 06, 2015  
DOI:10.3760/cma.j.issn.0254-6450.2015.10.008
KeyWord: 先天性心脏病  亚甲基四氢叶酸还原酶  基因  孕期状况
English Key Word: Congenital heart disease  Methylenetetrahydrofolate reductase  Gene  General status during pregnancy
FundProject:浙江省公益技术研究社会发展项目(2012C23092);浙江省医药卫生一般研究项目(2012KYA049)
Author NameAffiliationE-mail
Jiang Youfang Zhejiang Academy of Medical Science, Hangzhou 310013, China  
Mei Jin Hangzhou Obstetrics and Gynecology Hospital  
Zhang Wen Hangzhou Obstetrics and Gynecology Hospital  
Qian Xia Hangzhou Obstetrics and Gynecology Hospital  
Zhang Su Huzhou Maternity and Child Hospital  
Liu Chunling Huzhou Maternity and Child Hospital  
Yang Hua Zhejiang Academy of Medical Science, Hangzhou 310013, China yang5611@21cn.com 
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Abstract:
      目的 探讨母亲孕期MTHFR 677C/T多态性、孕期状况在子代先天性心脏病(CHD)发生中的相互关系。方法 采用病例对照研究,调查100对CHD胎儿和无CHD胎儿生物学母亲有关人口学、孕期环境相关情况、优生认知,并检测MTHFR 677C/T基因多态性以及血清同型半胱氨酸(HCY)、叶酸、VitB12水平,进行单因素和多因素非条件logistic回归分析。结果 病例组和对照组MTHFR 677C/T基因型和等位基因频率差异无统计学意义(χ2=1.08,P=0.582;χ2=0.53,P=0.468),血清HCY水平两组差异有统计学意义(t=-8.14,P=0.000)。单因素分析,14个因素有统计学意义(P<0.05);多因素logistic逐步回归分析,母亲教育程度(OR=3.386,95%CI:1.279~8.961)、家庭年收入(OR=8.699,95%CI:2.177~34.765)、患慢性病(OR=0.343,95%CI:0.134~0.881)、优生认知得分(OR=0.906,95%CI:0.836~0.981)、血清HCY水平(OR=1.734,95%CI:1.458~1.986)、异常生育史(OR=3.710,95%CI:1.217~11.308)等因素与子代CHD相关。结论 母亲MTHFR 677C/T多态性与子代CHD发生未发现关联;母亲教育程度低、家庭年收入低、异常生育史、优生认知得分低、血清HCY水平高可能增加子代CHD的发生危险。
English Abstract:
      Objective To understand the relationship between MTHFR 677C/T polymorphism and general status of pregnant women and offspring congenital heart disease (CHD). Methods A case-control study was conducted among the biological mothers of 100 infants with CHD and 100 healthy controls to collect the information about their demographic characteristics,general status during pregnancy and awareness of eugenics. Their MTHFR 677C/T polymorphism and serum homocysteine(HCY),folic acid,vitamin B12 levels were detected. Results The differences in MTHFR genotype and allele frequency between the two groups were not statistical significant(χ2=1.08,P=0.582;χ2=0.53,P=0.468),but the difference in serum HCY between two groups were statistical significant(t=-8.14,P=0.000). Univariate analysis showed that 14 factors had statistical significances(P<0.05). Multivariate logistic regression analysis indicated that mother's educational level(OR=3.386,95%CI:1.279-8.961),annual household income(OR=8.699,95%CI:2.177-34.765),chronic disease prevalence(OR=0.343,95%CI:0.134-0.881), awareness of eugenics(OR=0.906,95%CI:0.836-0.981),serum HCY level(OR=1.734,95%CI:1.458-1.986) and abnormal reproductive history(OR=3.710,95%CI:1.217-11.308) were correlated with offspring CHD. Conclusion There was no correlation between MTHFR 677C/T polymorphism of pregnant women and offspring CHD,but low educational level,low annual household income,abnormal reproductive history,low awareness of eugenics and high serum HCY levels of pregnant women might increase the risk of offspring CHD.
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