Gene ID Symbol Official full name 8409 UXT Ubiquitously expressed prefoldin-like chaperone 150684 COMMD1 Copper metabolism domain-containing 1 1278 COL1A2 Collagen type I alpha 2 2335 FN1 Fibronectin 1 4522
MTHFD1 Methylenetetrahydrofolate dehydrogenase 1 5193 PEX12 Peroxisomal biogenesis factor 12 57231 SNX14 Sorting nexin 14 10572 SIVA1 SIVA1 apoptosis-inducing factor 10742 RAI2 Retinoic acid-induced 2 22902 RUFY3 RUN and FYVE domain-containing 3 10456 HAX1 HCLS1-associated protein X-1 3492 IGH Immunoglobulin heavy locus
Molloy et al., "Analysis of the
MTHFD1 promoter and risk of neural tube defects," Human Genetics, vol.
These are MTHFR,
MTHFD1, SHMT, MTR, MTRR, PEMT (choline production), BHMT (homocysteine to methionine conversion), CBS and SUOX.
Methionine synthase (MTR), methionine synthase reductase (MTRR), transcobalamin 2 (TC2), cystathionine beta synthase (CBS), and methylenetetrahydrofolate dehydrogenase (MTHFD1) are very important enzymes involved in folate/homocysteine (Hcy) metabolism and play essential roles in synthesis and repair of DNA and methylation reactions [12].
Additionally, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a trifunctional nicotinamide adenine dinucleotide phosphate-dependent cytoplasmic enzyme, catalyzes the sequential interconversion of tetrahydrofolate (THF) into the corresponding 10-formyl-THF, 5,10-methenyl-THF, and 5,10-methylene-THF [17], which play an important role in de novo purine and pyrimidine biosynthesis and, thus, the synthesis of DNA [18].
Moghrabi, "Role of polymorphism in MTHFR and
MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia," Pharmacogenomics Journal, vol.
Wessels et al11 established a model for predicting MTX efficacy in RA patients which consisted of sex, rheumatoid factor and smoking status, the DAS, and 4 polymorphisms in the AMPD1, ATIC, ITPA, and
MTHFD1 genes.
Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and
MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections.
NM_000254).The reactions within the folate metabolism cycle can be very complex, with methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; GenBank accession no.
All SNPs were in HWE except the MTHFD1 SNP rs2236225 in affected individuals only (data not shown).
MTHF dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase (MTHFD1) catalyzes the conversion of tetrahydrofolate to [N.sup.10]-formyltetrahydrofolate, [N.sup.5], [N.sup.10]-methenyltetrahydrofolate, and 5,10-MTHF.
Models were also fitted with MTHFDI included to determine any multilocus effects across MTHFR and MTHFD1.