rs7387
This is a downstream gene variant variant in the DHFR gene.
▶Research that mentions this SNP (1)
▶The 19‐bp deletion polymorphism in intron‐1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish populationAssociationN=1,098Anne Parle‐McDermott et al.(2007)· American Journal of Medical Genetics Part A
In an Irish population study, the 19-bp deletion polymorphism in intron 1 of DHFR showed a significant maternal protective effect against spina bifida (RR=0.59 for one copy, RR=0.52 for two copies; p=0.01). Contrary to a previous study, the deletion allele was protective rather than increasing risk. Gene expression analysis showed a 1.5-fold trend toward increased DHFR mRNA levels in cells homozygous for the deletion.
About DHFR
Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
View all DHFR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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