Yang Yu1, Fang Wang2, Yihua Bao2, Xiaolin Lu2, Li Quan2, Ping Lu2. 1. Scientific Research Administration, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China. 2. Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
Abstract
OBJECTIVE: This study aims to investigate the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and neural tube defects (NTDs) in Chinese population. METHOD: A total of 271 NTDs cases and 192 healthy controls were used in this study. Fifty-two selected single nucleotide polymorphism (SNP) sites in the MTHFR gene were analyzed with next-generation sequencing method. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs. RESULTS: Statistical analysis showed a significant correlation between the SNP sites rs1801133 in MTHFR gene and NTDs. The GG genotype, G allele of rs1801133 in MTHFR significantly decreased the incidence of NTDs (OR = 0.449, 95% CI: 0.255-0.789 with genotype, and OR = 0.669, 95% CI: 0.508-0.881 with allele). CONCLUSIONS: The gene polymorphism loci rs1801133 in MTHFR gene maybe potential risk factors for NTD in Chinese population.
OBJECTIVE: This study aims to investigate the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and neural tube defects (NTDs) in Chinese population. METHOD: A total of 271 NTDs cases and 192 healthy controls were used in this study. Fifty-two selected single nucleotide polymorphism (SNP) sites in the MTHFR gene were analyzed with next-generation sequencing method. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs. RESULTS: Statistical analysis showed a significant correlation between the SNP sites rs1801133 in MTHFR gene and NTDs. The GG genotype, G allele of rs1801133 in MTHFR significantly decreased the incidence of NTDs (OR = 0.449, 95% CI: 0.255-0.789 with genotype, and OR = 0.669, 95% CI: 0.508-0.881 with allele). CONCLUSIONS: The gene polymorphism loci rs1801133 in MTHFR gene maybe potential risk factors for NTD in Chinese population.
Authors: Peadar N Kirke; James L Mills; Anne M Molloy; Lawrence C Brody; Valerie B O'Leary; Leslie Daly; Sharon Murray; Mary Conley; Philip D Mayne; Owen Smith; John M Scott Journal: BMJ Date: 2004-05-21
Authors: R J Berry; Z Li; J D Erickson; S Li; C A Moore; H Wang; J Mulinare; P Zhao; L Y Wong; J Gindler; S X Hong; A Correa Journal: N Engl J Med Date: 1999-11-11 Impact factor: 91.245
Authors: N M Cadenas-Benitez; F Yanes-Sosa; A Gonzalez-Meneses; L Cerrillos; D Acosta; J M Praena-Fernandez; O Neth; I Gomez de Terreros; P Ybot-González Journal: Genet Mol Res Date: 2014-03-26