Su Jiang, Li Zhongzhi
Cardiac Centre, Beijing Children's Hospital, Affiliated to Capital Medical University, Beijing, China.
Appl Immunohistochem Mol Morphol. 2018 Nov/Dec;26(10):769-774. doi: 10.1097/PAI.0000000000000512.
Congenital heart defects (CHDs) are the most common birth defects and ventricular septal defects (VSDs) are one of the most common types of CHDs. Genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase and methionine synthase reductase (MTRR) are key regulatory enzymes involved in the metabolic pathway of homocysteine.
We investigated whether a polymorphism (A2756G) of the methionine synthase and 2 polymorphisms (A66G and C524T) of the MTRR gene are associated with VSDs. A total of 183 children with VSDs and 201 healthy children were studied.
The polymorphisms were detected by polymerase chain reaction amplification and sequencing of the amplified product. Significant differences in the distributions of the A66G and C524T alleles were observed between VSD cases and controls, and a slightly increased risk of VSDs was associated with either of the 66AG, 524CT, and 524TT genotypes [odds ratios (OR)=1.796, 1.909, and 2.088, respectively]. The genotype frequency of 66AG in VSDs patients was significantly different from those of controls (ORs=3.147). In addition, the combined 66AG/524CT and 66GG/524TT in VSDs had ORs 2.937 and 5.344, respectively.
MTRR A66G and C524T polymorphisms are associated with increased risk of VSDs.
先天性心脏病（CHD）是最常见的出生缺陷，室间隔缺损（VSD）是CHD最常见的类型之一。参与同型半胱氨酸/叶酸代谢的基因可能在CHD中起重要作用。甲硫氨酸合酶和甲硫氨酸合酶还原酶（MTRR）是参与同型半胱氨酸代谢途径的关键调节酶。
我们研究了甲硫氨酸合酶的一个多态性（A2756G）和MTRR基因的两个多态性（A66G和C524T）是否与VSD相关。共研究了183例VSD患儿和201例健康儿童。
通过聚合酶链反应扩增和扩增产物测序检测多态性。在VSD病例和对照之间观察到A66G和C524T等位基因分布的显著差异，66AG、524CT和524TT基因型中的任何一种都与VSD风险略有增加相关[优势比（OR）分别为1.796、1.909和2.088]。VSD患者中66AG的基因型频率与对照组显著不同（OR=3.147）。此外，VSD中66AG/524CT和66GG/524TT的组合OR分别为2.937和5.344。
MTRR A66G和C524T多态性与VSD风险增加相关。
