Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27677362http://www.w3.org/2000/01/rdf-schema#comment"

Background/objectives

Choline is an essential nutrient involved in one-carbon metabolism, but its role in mechanisms underlying meiotic non-disjunction is poorly known. The relationship between folate-homocysteine metabolic pathway gene polymorphism and Down syndrome (DS) risk has been widely analyzed, but there are limited reports on its correlation with choline metabolism. In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS.

Subject/methods

Genotyping of 228 mothers of a down syndrome child (DSM) and 200 control mothers (CMs) for all SNPs was performed by PCR coupled with restriction fragment length polymorphism method.

Results

A significantly increased risk for BHMT +742AA genotype with an odds ratio of 4.96 (95% confidence interval (CI): 1.66-14.88, P=0.0036) was observed. For PEMT rs12325817 and CHDH rs12676, no significant difference in allelic and genotypic frequencies was observed. In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in DSM compared with that in CMs with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342). We also observed an epistatic interaction between methylenetetrahydrofolate reductase (MTHFR) rs1801133 and choline metabolic pathway gene variants.

Conclusions

Our findings indicate impaired choline metabolism showing a greater risk for DS, especially in a population associated with homocysteine-folate impairment. Further studies are required to confirm our findings."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.org/dc/terms/identifier"doi:10.1038/ejcn.2016.190"xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Kumar A."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Chauhan A."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Jaiswal S.K."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Rai A.K."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Sukla K.K."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/author"Lakhotia A.R."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/name"Eur J Clin Nutr"xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/pages"45-50"xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/title"Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment."xsd:string
http://purl.uniprot.org/citations/27677362http://purl.uniprot.org/core/volume"71"xsd:string
http://purl.uniprot.org/citations/27677362http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27677362
http://purl.uniprot.org/citations/27677362http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/27677362
http://purl.uniprot.org/uniprot/#_B2RCQ6-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_B4DMQ4-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_B4E1C7-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_B4DPF0-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_Q71UY0-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_Q6EI07-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_Q8NE62-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_Q93088-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
http://purl.uniprot.org/uniprot/#_Q9UBM1-mappedCitation-27677362http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27677362
▶