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Results

CYP3A4

Gene: CYP3A4

Uniprot ID: P08684

Function: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020].

Drug Associations

Variant Gene Drug Description P-value Region Country Study Variant Type Source DB Mixed Population Study Type Ethnicity
rs2246709 CYP3A4 amlodipine Genotypes AG + GG are associated with increased response to amlodipine in people with Hypertension as compared to genotype AA. 0.005 African-American / Afro-Caribbean USA 19907160 SNV PharmGKB True Candidate Gene African American
rs2246709 CYP3A4 amlodipine Genotypes AG + GG are not associated with response to amlodipine in men with Hypertension as compared to genotype AA. NR African-American / Afro-Caribbean USA 19907160 SNV PharmGKB False Candidate Gene African American
rs2246709 CYP3A4 amlodipine Genotypes AG + GG are not associated with response to amlodipine in women with Hypertension as compared to genotype AA. NR African-American / Afro-Caribbean USA 19907160 SNV PharmGKB False Candidate Gene African American
rs2246709 CYP3A4 amlodipine Genotypes AG + GG are not associated with response to amlodipine in people with Hypertension as compared to genotype AA. NR African-American / Afro-Caribbean USA 19907160 SNV PharmGKB False Candidate Gene African American
rs2740574 CYP3A4 amlodipine Genotypes CT + TT are associated with increased response to amlodipine in women with Hypertension as compared to genotype CC. 0.44 African-American / Afro-Caribbean USA 19907160 SNV PharmGKB True Candidate Gene African American
rs2740574 CYP3A4 amlodipine Genotypes CT + TT are not associated with response to amlodipine in women with Hypertension as compared to genotype CC. 0.44 African-American / Afro-Caribbean USA 19907160 SNV PharmGKB True Candidate Gene African American
rs2740574 CYP3A4 amlodipine Genotypes CT + TT are not associated with response to amlodipine in men with Hypertension as compared to genotype CC. 0.76 African-American / Afro-Caribbean USA 19907160 SNV PharmGKB False Candidate Gene African American
rs2740574 CYP3A4 nevirapine Genotype CC is not associated with decreased clearance of nevirapine in people with HIV as compared to genotypes CT + TT. > 0.05 Southern Africa Malawi 22111602 SNV PharmGKB False Candidate Gene NR
rs2740574 CYP3A4 carbamazepine Genotype TT is associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotypes CC + CT. 0.027 African-American / Afro-Caribbean USA 23252947 SNV PharmGKB True Candidate Gene African American
CYP3A4*1 CYP3A4 simvastatin CYP3A4 *1,*22 + *22,*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1,*1. NR African-American / Afro-Caribbean USA 25051018 Star allele PharmGKB False Candidate Gene NR
CYP3A4*22 CYP3A4 simvastatin CYP3A4 *1,*22 + *22,*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1,*1. < 0.01 African-American / Afro-Caribbean USA 25051018 Star allele PharmGKB False Candidate Gene African American
rs4646437 CYP3A4 cyclosporine Genotypes AG + GG is associated with increased dose-adjusted trough concentrations of cyclosporine in people with Kidney Transplantation as compared to genotype AA. < 0.001 North Africa Egypt 25240575 SNV PharmGKB False Candidate Gene NR
rs4646437 CYP3A4 cyclosporine Genotypes AG + GG is associated with increased response to cyclosporine in people with Kidney Transplantation as compared to genotype AA. < 0.001 North Africa Egypt 25240575 SNV PharmGKB False Candidate Gene NR
CYP3A4*1 CYP3A4 tacrolimus CYP3A4 *1,*1B is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1,*1. < 0.0001 North Africa Tunisia 26615671 Star allele PharmGKB False Candidate Gene NR
CYP3A4*1B CYP3A4 tacrolimus CYP3A4 *1,*1B is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1,*1. < 0.0001 North Africa Tunisia 26615671 Star allele PharmGKB False Candidate Gene NR
rs2740574 CYP3A4 efavirenz Genotype CC is not associated with concentrations of efavirenz in people with HIV as compared to genotypes CT + TT. 0.863 Southern Africa South Africa 26779253 SNV PharmGKB False Candidate Gene NR
rs2740574 CYP3A4 lopinavir Genotypes CT + TT is not associated with concentrations of lopinavir in people with HIV as compared to genotype CC. > 0.05 Southern Africa South Africa, Malawi 27142945 SNV PharmGKB False Candidate Gene Bantu
rs2740574 CYP3A4 lumefantrine Allele C is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T. 0.018 East Africa Tanzania 28673292 SNV PharmGKB False Clinical Trial NR
rs2242480 CYP3A4 tacrolimus Allele T is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C. 1.91E-08 African-American / Afro-Caribbean USA 29318894 SNV PharmGKB False GWAS African American
rs4646437 CYP3A4 tacrolimus Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G. 8.86E-08 African-American / Afro-Caribbean USA 29318894 SNV PharmGKB False GWAS African American
CYP3A4*1 CYP3A4 buprenorphine CYP3A4 *1,*1B is associated with increased dose of buprenorphine in people with Opioid-Related Disorders. NR African-American / Afro-Caribbean USA 29450233 Star allele PharmGKB False GWAS NR
CYP3A4*1B CYP3A4 buprenorphine CYP3A4 *1,*1B is associated with increased dose of buprenorphine in people with Opioid-Related Disorders. NR African-American / Afro-Caribbean USA 29450233 Star allele PharmGKB False GWAS NR

Phenotype Associations

Variant Gene Phenotype P-value Region Country Study Variant Type Source DB Mixed Population Study Type Ethnicity
rs28988583 CYP3A4 Post-traumatic stress disorder (re-experiencing symptoms) 5e-06 African-American / Afro-Caribbean USA 31358989 SNV GWAS Catalog False GWAS NR
rs35599367 CYP3A4 Tacrolimus trough concentration in kidney transplant patients 6e-18 African-American / Afro-Caribbean USA 30801552 SNV GWAS Catalog False GWAS NR

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