Title : DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.

Pub. Date : 2013 Apr

PMID : 23421317






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid serine hydroxymethyltransferase 1 Homo sapiens
2 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid serine hydroxymethyltransferase 1 Homo sapiens
3 RESULTS: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). Methylmalonic Acid serine hydroxymethyltransferase 1 Homo sapiens