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DPYD

From SNPedia

is agene
is mentioned by
Full namedihydropyrimidine dehydrogenase
EntrezGene1806
PheGenI1806
VariationViewer1806
ClinVarDPYD
GeneCardsDPYD
dbSNP1806
DiseasesDPYD
SADR1806
HugeNav1806
wikipediaDPYD
googleDPYD
gopubmedDPYD
EVSDPYD
HEFalMpDPYD
MyGene2DPYD
23andMeDPYD
UniProtQ12882
EnsemblENSG00000188641
OMIM612779
# SNPs77
 Max MagnitudeChromosome positionSummary
rs1057516356
rs1057516357
rs1057516388
rs1057516405
rs1057516510
rs1057516615
rs1057516671
rs1057516696
rs1057516710
rs1057516711
rs1057516713
rs1057516761
rs1057516763
rs1057516828
rs1057516873
rs1057516894
rs1057516968
rs1057516997
rs1057517018
rs1057517055
rs1057517065
rs1057517095
rs1057517126
rs1057517189
rs1057517230
rs1057517271
rs1057517327
rs1057517396
rs1064796552
rs1116584697,354,111
rs11185827697,549,600
rs11276620397,305,279
rs115232898097,699,474
rs1158787397,187,514
rs13799909097,373,598
rs13861637997,450,189
rs14104403697,082,365
rs141597515
rs14398639897,740,439
rs14577386397,450,187
rs146170505
rs176021797,137,438
rs1801159097,515,839
rs18011603.597,305,364
rs1801265097,883,329
rs180126697,691,776
rs1801267097,098,598
rs180126897,079,071
rs18310578297,595,107
rs18338577097,593,322
... further results


The Dihydropyrimidine dehydrogenase DPYD gene encodes the enzyme of that same name, a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. SNPs leading to deficiency of this enzyme result in an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients undergoing chemotherapy using fluoropyrimidines such as 5-fluorouracil. Wikipedia

Mutations in the DPYD gene that result in a nonfunctional allele and therefore influence chemotherapeutic toxicity include:


Carriers of one nonfunctional allele are considered intermediate metabolizers; carriers of two nonfunctional alleles are poor metabolizers. These diplotypes are tested by genosets gs313, gs312 and gs306, representing the predicted presence of 0, 1 or 2 nonfunctional alleles, respectively.

Note that SNPs in several other genes may influence chemotherapeutic toxicity, including the TYMS gene, which encodes the enzyme that is the primary target of 5-fluorouracil.