Study on Maternal SNPs of MTHFR Gene and HCY Level Related to Congenital Heart Diseases
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ORIGINAL ARTICLE
Study on Maternal SNPs of MTHFR Gene and HCY Level Related to Congenital Heart Diseases Hui Shi1 · Shiwei Yang2 · Ning Lin1 · Peng Huang3 · Rongbin Yu3 · Mei Chen2 · Lijuan Wang1 · Zhixin Jiang1 · Xiaoru Sun1 Received: 17 April 2020 / Accepted: 30 August 2020 © The Author(s) 2020
Abstract The aim of this study is to evaluate the relationship between maternal single nucleotide polymorphisms (SNPs) of methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine (HCY) level and offspring congenital heart diseases (CHDs). 338 mothers with offspring CHDs as case group and 306 mothers of normal children as control group were recruited. Their pregnant histories were interviewed by questionnaire and the MTHFR rsl801133 and rsl801131 were genotyped. The case–control analysis was used to find out the relationship between maternal SNPs of MTHFR gene and offspring CHDs. And the plasma HCY concentration of the mothers of CHDs children was detected. This case–case study was intended to find out the relevance between maternal HCY level and SNPs of MTHFR gene. There were significant differences in the gender of children, occupation of mothers, family history with CHDs, history of abortion, history of adverse pregnancy, early pregnancy health, fetus during pregnancy, pesticide exposure and drug exposure in CHDs group and control group (P T polymorphism (rs1801133) and 1298A > C polymorphism (rs1801131), which result in the conversion of alanine to valine and glutamate to alanine, respectively. In our previous study, we found environment risks for CHDs in Chinese and the maternal genotype in MTHFR rs1801131 variant significantly increased offspring CHDs risk by screened five single nucleotide polymorphisms (SNPs)
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of three genes [5]. However, the relationship between the maternal plasma HCY level and SNPs of MTHFR was only showed a tendency without statistic significances. The objective of the present further study was to evaluate the relationship between the genotype and HCY level in the plasma of mothers with offspring CHDs by case–case study in a larger crowd, and meanwhile a further investigation on maternal environmental risks and the genotype factor in MTHFR by case–control study.
Materials and Methods Ethics Statement The study had been approved by the Ethics Review Committee of the Jiangsu Institute of Planned Parenthood Research, Nanjing, China. Prior written informed consent was obtained from all the participants enrolled in the study.
Participants From May 2012 to September 2016, the mothers of CHDs children in the study were recruited from the Nanjing Children’s Hospital, and the mothers of healthy children with matching age were recruited from the preconception health care center, Jiangsu Province, China. They were interviewed face-to-face to collect personal information and excluded diseases such as CHDs, hypertension, diabetes, tumor and others. Each participant donated 3 mL venous blood for HCY tests and host DNA genotyping.
DNA Collection and Genotyping
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