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BioMed Research International
Volume 2014, Article ID 560183, 9 pages
Research Article

The Effect of Multiple Single Nucleotide Polymorphisms in the Folic Acid Pathway Genes on Homocysteine Metabolism

1Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China
2Department of Obstetrics and Gynecology, Shanghai Medical College, Fudan University, Shanghai 200032, China
3Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200011, China
4State Key Laboratory of Genetic Engineering, Institute of Biostatistics, School of Life Science, Fudan University, Shanghai 200433, China
5Children’s Hospital of Fudan University, Shanghai 201102, China
6Institute of Biomedical Sciences, Fudan University, Shanghai 201508, China
7Department of Pharmaceutical Sciences, College of Pharmacy, University of South Florida, Tampa, FL 33612, USA
8Central Lab, Shanghai Xuhui Central Hospital, Shanghai 200031, China

Received 5 April 2013; Revised 29 September 2013; Accepted 17 October 2013; Published 12 January 2014

Academic Editor: Wen-Hwa Lee

Copyright © 2014 Shuang Liang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. To investigate the joint effects of the single nucleotide polymorphisms (SNPs) of genes in the folic acid pathway on homocysteine (Hcy) metabolism. Methods. Four hundred women with normal pregnancies were enrolled in this study. SNPs were identified by MassARRAY. Serum folic acid and Hcy concentration were measured. Analysis of variance (ANOVA) and support vector machine (SVM) regressions were used to analyze the joint effects of SNPs on the Hcy level. Results. SNPs of MTHFR (rs1801133 and rs3733965) were significantly associated with maternal serum Hcy level. In the different genotypes of MTHFR (rs1801133), SNPs of RFC1 (rs1051266), TCN2 (rs9606756), BHMT (rs3733890), and CBS (rs234713 and rs2851391) were linked with the Hcy level adjusted for folic acid concentration. The integrated SNPs scores were significantly associated with the residual Hcy concentration (RHC) (). The Hcy level was significantly higher in the group with high SNP scores than that in other groups with SNP scores of less than 0.2 (). Moreover, this difference was even more significant in moderate and high levels of folic acid. Conclusion. SNPs of genes in the folic acid pathway possibly affect the Hcy metabolism in the presence of moderate and high levels of folic acid.