MTHFR

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is agene
is mentioned by
Full namemethylenetetrahydrofolate reductase (NAD(P)H)
EntrezGene4524
PheGenI4524
VariationViewer4524
ClinVarMTHFR
dbSNP4524
SADR4524
HugeNav4524
wikipediaMTHFR
googleMTHFR
gopubmedMTHFR
EVSMTHFR
HEFalMpMTHFR
23andMeMTHFR
UniProtP42898
EnsemblENSG00000177000
OMIM607093
EVSMTHFR
# SNPs30
 Max MagnitudeChromosome positionSummary
Rs1212154311,794,614
Rs12143429411,800,251
Rs12143429511,801,166
Rs12143429611,794,766
Rs12143429711,795,161
Rs1330656011,806,126
Rs1330656111,805,747
Rs147641311,792,243
Rs153751411,788,011
Rs1703739011,800,786
Rs1703739611,801,990
Rs1736750411,802,721
Rs1737590111,792,459
Rs1742151111,797,731
Rs180113111,794,419
Rs180113311,796,321elevated homocysteine levels
Rs206646211,794,839
Rs206647011,803,000
Rs227497611,790,870
Rs26760688611,795,114
Rs26760688711,795,158
Rs373796411,806,987
Rs373796511,806,394
Rs4559083611,791,216
Rs484604811,786,195
Rs484604911,790,308
Rs484605111,794,400
Rs5951431011,796,321
Rs753331511,800,626
Rs965111811,802,157

The MTHFR gene encodes the vitamin-dependent enzyme, methylenetetrahydrofolate reductase. Several conditions or defects caused by functionally impaired forms of the MTHFR protein can be improved through dietary supplementation by folate.

There are 3 common SNPs giving rise to MTHFR alleles:

gs192 and gs193 look at variation in this gene

It is likely that there are numerous other variations that are much rarer. When the MTHFR genes of 564 individuals of diverse ethnicities were fully sequenced, in addition to the 3 common alleles mentioned above, 11 other nonsynonymous changes were found, each with a frequency under 1%. Four of these 11 rarer alleles affected enzyme function (as did A222V) based on tests in yeast, most of which could be fixed with higher folate supplementation (in yeast; this is not yet tested in humans). Since all five impaired alleles map to the N-terminal catalytic domain of the enzyme, it seems likely that additional SNPs causing nonsynonymous changes in this region could have similar effects.10.1073/pnas.0802813105


SNP rs1801133, A222V, is not thought to be a major risk factor for neural tube defects [PMID 17035141] except in certain populations. For example, Dutch and Irish populations indicate an increased risk for (T;T) carriers [PMID 10090889], but this same genotype (ie carriers of the thermolabile T allele) appears to have a protective effect in an Italian population studied [PMID 12111380].

[PMID 16672082] a SNP in MTHFR which affects Neural-tube defects (Birth defects)