rs118203756

This is a protein-altering variant in the CYP2C19 gene.

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ClinVar annotation

Drug Response★★★★
1 submitter3 publications

CYP2C19: uncertain function

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Research that mentions this SNP (2)

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CYP2C19 genotype–phenotype discordance in patients with multiple myeloma leads to an acquired loss of drug-metabolising activity
FunctionalN=25Burns KE et al.(2014)· Cancer Chemotherapy and Pharmacology

Study of 25 multiple myeloma patients examined CYP2C19 genotype-phenotype discordance using three common variants (rs4244285, rs49486893, rs12248560). Despite no homozygous null genotypes, 28% of patients showed poor metabolizer phenotype measured by proguanil metabolic ratio, indicating acquired loss of CYP2C19 activity independent of genetic variation (p < 0.0001). Discordance did not correlate with inflammatory markers CRP or IL-6.

Traits studied:CYP2C19 activityDrug metabolismMultiple myeloma
PubMedDOIMetascience Observatory
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Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women
AssociationN=200Suleeporn Sangrajrang et al.(2009)· International Journal of Cancer

This case-control association study of 200 breast cancer patients examined the relationship between CYP2C19*2 (rs4244285, G681A) and CYP17 (rs743572, T34C) polymorphisms and chemotherapy-induced toxicities. CYP2C19*2 variant genotype showed significant associations with adriamycin-induced hematological toxicities (anemia OR=9.77, neutropenia OR=5.72, febrile neutropenia OR=4.29, thrombocytopenia OR=5.86) and non-hematological toxicities (CINV OR=99.73, fatigue OR=83.29, peripheral neuropathy OR=12.00). CYP17 polymorphism showed significant association with paclitaxel-induced bodyache (OR=2.77) and peripheral neuropathy (OR=3.90).

Traits studied:AnemiaBodyacheBreast cancer chemotherapy-induced toxicityChemotherapy-induced nausea and vomiting (CINV)FatigueFebrile neutropeniaMucositisNeutropeniaPeripheral neuropathyThrombocytopenia
PubMedDOIMetascience Observatory

About CYP2C19

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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