Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

作者：Xuan, Chao; Li, Hui; Zhao, Jin-Xia; Wang, Hong-Wei; Wang, Yi; Ning, Chun-Ping; Liu, Zhen; Zhang, Bei-Bei; He, Guo-Wei; Lun, Li-Min^*

来源：Scientific Reports, 2014, 4(1): 7311.

DOI：10.1038/srep07311

• METHYLENETETRAHYDROFOLATE REDUCTASE MUTATION
• METHYLENE-TETRAHYDROFOLATE-REDUCTASE
• SINGLE-NUCLEOTIDE-POLYMORPHISMS
• C677T POLYMORPHISM
• GENE POLYMORPHISMS
• CHINESE PATIENTS
• HOMOCYSTEINE LEVEL
• FOLATE METABOLISM
• SEPTAL-DEFECT
• RISK-FACTOR

The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD). Electronic literature databases were searched to identify eligible studies published before Jun, 2014. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI). The publication bias was explored using Begg's test. Sensitivity analysis was performed to evaluate the stability of the crude results. A total of 35 studies were included in this meta-analysis. For the MTHFR C677T polymorphism, we detected significant association in all genetic models for Asian children and the maternal population. Significant association was also detected in T vs. C for a Caucasian paediatric population (OR51.163, 95% CI: 1.008-1.342) and in both T vs. C (OR = 51.125, 95% CI: 1.043-1.214) and the dominant model (OR = 51.216, 95% CI: b1.096-1.348) for a Caucasian maternal population. For the MTHFR A1298C polymorphism, the association was detected in CC vs. AC for the Caucasian paediatric population (OR = 51.484, 95% CI: 1.035-2.128). Our results support the MTHFR -677T allele as a susceptibility factor for CHD in the Asian maternal population and the -1298C allele as a risk factor in the Caucasian paediatric population.

• 出版日期2014-12-4
• 单位杭州师范大学; 青岛大学; 泰达国际心血管病医院