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 .
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 , which play an important role in de novo purine and pyrimidine biosynthesis and, thus, the synthesis of DNA .
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
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.