Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, India.
Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, India.
Eur J Clin Nutr. 2017 Dec;71(12):1437-1441. doi: 10.1038/ejcn.2017.135. Epub 2017 Sep 6.
BACKGROUND/OBJECTIVES: The objective of the study was to assess the role of variations in serum folate, vitamin B12, homocysteine and the presence of genetic polymorphisms as risk factors for congenital heart disease (CHD) in children.
SUBJECTS/METHODS: A total of 32 children with CHD, and their mothers and 32 normal children and their mothers formed the study and control groups, respectively. Serum folate, vitamin B12 and homocysteine as well as genetic polymorphisms MTHFR C677→︀T, MTHFR A1298→︀C, MTR A2756→︀G and MTRR A66→︀G were assessed.
Low serum folate and genetic polymorphisms MTHFR C677→︀T and MTRR A66→︀G among children and their mothers and high homocysteine among mothers were noted as risk factors for CHD (P<0.05). Vitamin B12 levels were normal and showed no association. Presence of MTHFR C677→︀T and MTRR A66→︀G, both concurrently among children as well as mothers and simultaneously among mother-child pairs, showed several fold increase in the risk for CHD. On multivariate analysis, the risk factors noted for CHD were presence of MTHFR C677→︀T among children and their mothers and MTRR A66→︀G among mothers. Analyses for nutrient-gene interaction revealed significant associations between low serum folate and high serum homocysteine levels, and the presence of selected genetic polymorphisms.
Low serum folate, high homocysteine and presence of selected genetic polymorphisms among children and their mothers were noted as risk factors for CHD. Nutrient-gene interaction being a modifiable risk factor, the study recommends the use of peri-conceptional folate supplementation with vitamin B12 sufficiency for primary prevention of CHD.
背景/目的：本研究旨在评估血清叶酸、维生素 B12、同型半胱氨酸的变化以及遗传多态性作为儿童先天性心脏病 (CHD) 风险因素的作用。
受试者/方法：共有 32 名 CHD 患儿及其母亲和 32 名正常儿童及其母亲分别组成研究组和对照组。评估了血清叶酸、维生素 B12 和同型半胱氨酸以及 MTHFR C677→T、MTHFR A1298→C、MTR A2756→G 和 MTRR A66→G 等遗传多态性。
患儿及其母亲血清叶酸水平低，且存在 MTHFR C677→T 和 MTRR A66→G 遗传多态性，以及母亲同型半胱氨酸水平高，这些都是 CHD 的危险因素（P<0.05）。维生素 B12 水平正常且与 CHD 无关。患儿及其母亲同时存在 MTHFR C677→T 和 MTRR A66→G 以及母亲同时存在 MTHFR C677→T 和 MTRR A66→G 时，CHD 的风险会增加数倍。多变量分析显示，患儿及其母亲存在 MTHFR C677→T 和母亲存在 MTRR A66→G 是 CHD 的危险因素。营养素-基因相互作用分析显示，血清叶酸水平低和同型半胱氨酸水平高与某些遗传多态性之间存在显著关联。
患儿及其母亲血清叶酸水平低、同型半胱氨酸水平高和某些遗传多态性存在是 CHD 的危险因素。营养素-基因相互作用是一种可改变的危险因素，本研究建议在围孕期补充叶酸和维生素 B12，以预防 CHD。
