母亲孕期同型半胱氨酸、叶酸及相关基因多态性与子代发生先天性心脏病的关系  

Correlations between maternal gestational homocysteine,folic acid and related-gene polymorphisms and risk of congenital heart disease in offsprings

作　　者：段素霞 赵梦川 张丽霞[1] 赵紫薇 陶曙光[1] 金立臣[1] 宋海龙[1] 崔晓薇[1] 李贵霞[1] DUAN Suxia;ZHAO Mengchuan;ZHANG Lixia(Department of Clinical Laboratory,Children’s Hospital of Hebei Province,Hebei,Shijiazhuang 050030,China)

机构地区：[1]河北省儿童医院检验科,石家庄市050030

出　　处：《河北医药》2022年第23期3612-3615,共4页Hebei Medical Journal

基　　金：河北省医学科学研究重点课题计划(编号:20190136)。

摘　　要：目的 研究母亲孕期血清同型半胱氨酸(Hcy)、红细胞叶酸及相关基因多态性:5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T和A1298C位点、蛋氨酸合成酶(MS) A2756G及蛋氨酸合成酶还原酶(MTRR) A66G位点与子代发生先天性心脏病(CHD)的相关性。方法 选择2018年6月至2019年12月期间在河北省儿童医院胎儿先天性心脏病筛查中心就诊的22~30孕周的单胎孕妇107例。按照是否妊娠CHD胎儿,将研究对象分为CHD组(n=52)和正常妊娠组(n=55),分别测定其血清HCY、红细胞叶酸及相关基因多态性。结果 CHD组血清Hcy水平高于正常妊娠组(Z=-2.45,P=0.01)。CHD组与正常妊娠组孕妇红细胞叶酸水平比较差异无统计学意义(Z=-1.64,P=0.10)。MTHFR-C677T位点等位基因T携带者相对于等位基因C携带者其子代发生CHD的风险高2.56倍(OR=2.56,95%CI:1.47~4.47,P<0.001)。与纯合子CC型比较,携带杂合子CT的母亲其子代患CHD的风险较高(OR=5.37,95%CI:1.59~18.11,P=0.004),突变型纯合子TT母亲其子代患CHD的风险是CC个体的8.04倍(95%CI:2.24~28.85,P<0.001)。母亲MTHFR-A1298C、MS-A2756G及MTRR-A66G位点对子代CHD的发生均无影响(P>0.05)。结论 母亲孕期血清HCY水平升高及MTHFR-C677T位点的等位基因T可能是子代CHD发生的危险因素。Objective To study the correlations between maternal serum homocysteine(Hcy), erythrocyte folic acid and gene polymorphisms: 5,10-methylenetetrahydrofolate reductase(MTHFR) C677T, A1298C, methionine synthase(MS) A2756G, A66G methionine synthase reductase(MTRR) with the risk of congenital heart disease(CHD) in offsprings. Methods A total of 107 singleton pregnant women between 22 and 30 weeks of gestation admitted to the Fetal Congenital Heart Disease Screening Center of Hebei Children’s Hospital from June 2018 to December 2019. Subjects were divided into CHD group(n=52) and normal pregnancy group(n=55) based on the availiaility of CHD fetuses’ pregnancy, then their serum HCY, erythrocyte folic acid and the related gene polymorphisms were detected. Results The serum Hcy in the CHD group increased significantly compared with the normal pregnancy group(Z=-2.45,P=0.01). Difference in the erythrocyte folic acid between the CHD group and normal pregnancy group was not statistically significant(Z=1.64,P=0.10). The offspring of mothers carrying the mutant allele Ts of MTHFRC677T contributed to a higher risk of developing CHD relative to allele C(OR=2.56, 95% CI:1.47~4.47, P<0.001). Compared with the wild CC genotype, the offspring of parents carrying heterozygous CT have a higher risk of CHD(OR=5.37,95% CI:1.59~18.11,P=0.004). The risk of CHD in the offsprings of TT mutant homozygous mothers was 8.04 times of that of CC individuals(95% CI:2.24~28.85,P<0.001), while maternal MTHFR A1298C, MSA2756G and MTRR A66G had no significant impacts on the occurrence of offspring CHD(P>0.05). Conclusion Maternal high serum HCY level and allele T of MTHFR-C677T may be correlated with the development of CHD in offspring.

关 键 词：同型半胱氨酸 叶酸 基因多态性 先天性心脏病 

分 类 号：R541.1[医药卫生—心血管疾病]