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Association between MTHFR gene polymorphism and NTDs in Chinese Han population
Yang Yu1, Fang Wang2, Yihua Bao2
1Scientific Research Administration, Capital Institute of Pediatrics 2 Yabao Road, Chaoyang District, Beijing 100020, China.
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.
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