title: Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population.
abstract: BACKGROUND
  The polymorphism of genes involved in folate-mediated one-carbon metabolism may be a risk factor for neural tube defects (NTDs). In the present study, we aimed to investigate the single nucleotide polymorphisms (SNPs) of the genes BHMT, CUBN, FTCD, GAMT, GART, SARDH, SHMT1, and MUT, and their effect on NTDs in the Chinese Han population.
  
  
  METHODS
  A total of 270 NTDs cases and 192 controls were enrolled in this study. The SNPs were analyzed with the next-generation sequencing method. The folate levels of brain tissues from 113 available NTDs cases and 123 available controls were measured.
  
  
  RESULTS
  Next-generation sequencing identified 818 single nucleotide variants, including 214 SNPs used for further analysis. Statistical analysis showed that two independent SNP loci, rs2797840 and rs2073817 in SARDH, may be associated with the susceptibility of NTDs. Specifically, the minor allele G of rs2797840 was significantly associated with NTDs risk in spina bifida subgroup (p value = 0.0348). For subjects whose folate content was measured, the protective allele G of rs2797840 was significantly associated with increased folate content of brain. rs2797840 is within several ENCODE regulatory regions, indicating this SNPs may influence expression of SARDH.
  
  
  CONCLUSIONS
  The SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of NTDs in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain.
authors.affiliation: National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Key Laboratory of Trace Element Nutrition of National Health and Family Planning Commission of the People's Republic of China, Beijing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Piao
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Chaoyang District, Beijing, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Guo
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Chaoyang District, Beijing, China.
authors.forename: Yihua
authors.initials: Y
authors.lastname: Bao
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Chaoyang District, Beijing, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Chaoyang District, Beijing, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.affiliation: National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Key Laboratory of Trace Element Nutrition of National Health and Family Planning Commission of the People's Republic of China, Beijing, China.
authors.forename: Junsheng
authors.initials: J
authors.lastname: Huo
authors.affiliation: Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China.
authors.forename: Kunlin
authors.initials: K
authors.lastname: Zhang
mesh_terms: D002681:China; D005260:Female; D005492:Folic Acid / Q000235:genetics* / Q000378:metabolism; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D050892:Sarcosine Dehydrogenase / Q000235:genetics* / Q000378:metabolism
chemical_list: D005492:Folic Acid; C494395:SARDH protein, human; D050892:Sarcosine Dehydrogenase
keywords: Chinese Han population; SARDH; folate mediated one-carbon metabolism; neural tube defects; single nucleotide polymorphisms