UNASSIGNED: BACKGROUND The polymorphism of @entity21622 dehydrogenase ( @entity5369 ) has been reported as a risk factor for @entity601 ( @entity601 ). In the present study, we aimed to investigate whether the single-nucleotide polymorphisms (SNPs) of @entity5369 gene are associated with @entity601 in a Chinese population and to determine their mechanism of action. MATERIAL AND METHODS @entity5369 gene was scanned in a total of 270 @entity601 cases and 192 healthy controls by using next-generation sequencing (NGS) method. After quality control procedures, 208 selected SNP sites in @entity5369 gene were enrolled for follow-up statistical association analyses. Functional analyses were also performed for significant SNPs through bioinformatics analysis. @entity1501 levels of brain tissue in available @entity601 cases and healthy controls (113 and 123, respectively) were measured. Statistical and bioinformatics analyses were performed to investigate the relationship between SNPs in @entity5369 and susceptibility to @entity601 . RESULTS Statistical analysis showed that 2 independent SNPs, @entity68112 and @entity68113 , confer the risk of @entity601 (P value=0.0195, OR (odds ratio)=1.41, 95% CI (confidence interval)=1.06-1.88; P value=0.0107, OR=0.56, 95% CI=0.36-0.87). The haplotype GGGG, which consists of 4 SNPs ( @entity52259 , @entity68114 , @entity68115 , and @entity68116 ), is also associated with risk of @entity601 (P value=0.0438, OR=0.7180, 95% CI=0.5214-0.9888). The risk allele C of @entity68112 is also associated with decreased @entity1501 levels in the brain (P value=0.0222, standard beta=-0.2238, 95% CI=-0.4128 - -0.0349) according to analysis in the subset of @entity601 cases and healthy controls. Bioinformatics analysis indicates that @entity68112 and @entity68113 are within ENCODE regulatory regions, the open chromatin regions of blastula Trophoblast cell line, and histone-marked region of brain astrocyte cell line. CONCLUSIONS The polymorphism of SNP loci @entity68112 and @entity68113 as well as a haplotype in @entity5369 gene could serve as an indicator for the occurrence of @entity601 in Chinese population and some specific genotypes of the loci may have lower risk of developing @entity601 .

Polymorphisms in XXXX Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low @entity1501 Levels.

@entity1501 :: ('MESH:D005492', 'Chemical') :: ['folic acid', 'Folic acid'] @entity68113 :: ('rs56811449', 'SNP') :: ['rs56811449'] @entity68114 :: ('rs2236224', 'SNP') :: ['rs2236224'] @entity5369 :: ('4522', 'Gene') :: ['MTHFD1'] @entity68116 :: ('rs6573559', 'SNP') :: ['rs6573559'] @entity68112 :: ('rs1956545', 'SNP') :: ['rs1956545'] @entity21622 :: ('CHEBI:25297', 'Chemical') :: ['methylenetetrahydrofolate'] @entity601 :: ('MESH:D009436', 'Disease') :: ['NTDs', 'neural tube defects'] @entity52259 :: ('rs2236225', 'SNP') :: ['rs2236225'] @entity68115 :: ('rs1256146', 'SNP') :: ['rs1256146']
@entity5369 :: (4522,Gene) :: ['MTHFD1']
