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CYP3A5

From SNPedia

is agene
is mentioned by
Full namecytochrome P450, family 3, subfamily A, polypeptide 5
EntrezGene1577
PheGenI1577
VariationViewer1577
ClinVarCYP3A5
dbSNP1577
SADR1577
HugeNav1577
CYPANCcyp3a5
wikipediaCYP3A5
googleCYP3A5
gopubmedCYP3A5
EVSCYP3A5
HEFalMpCYP3A5
MyGene2CYP3A5
23andMeCYP3A5
UniProtP20815
EnsemblENSG00000106258
OMIM605325
# SNPs14
 Max MagnitudeChromosome positionSummary
rs102642722.599,665,212
rs283650832.599,652,613
rs283650852.599,648,351
rs283834682.599,676,192
rs283834792.599,660,516
rs412798542.599,650,149
rs412798572.599,672,599
rs413033432.599,652,770
rs455939412.599,648,351
rs558179502.599,676,198
rs562444472.599,672,653
rs564114022.599,665,237
rs725527912.599,676,122
rs7767462.599,672,916

The CYP3A5 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. The enzyme metabolizes drugs such as olanzapine, tacrolimus, nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone and androstenedione. Wikipedia This gene may be an important contributor to individual and inter-racial variation in CYP3A mediated metabolism of drugs including antipsychotics (olanzapine), antiestrogen (tamoxifen), anticancer (irinotecan, docetaxel, vincristine), antimalarial (mefloquine, artemether, lumefantrine), immunomodulators (tacrolimus, cyclosporine), antihistamines (chlorpheniramine, terfenadine, astemizole), antiplatelets (clopidogrel), antihypertensives (nifedipine, amlodipine, felodipine, verapamil), antivirals (indinavir, nelfinavir, ritonavir, saquinavir), HMG-CoA reductase inhibitors (atorvastatin, cerivastatin, lovastatin) antibiotics (clarithromycin) and steroids (testosterone, estradiol, progesterone and androstenedione). [PMID 24604039]

In terms of phenotypes, individuals are 'expressors' of CYP3A5 if they carry at least one CYP3A5*1 allele, and 'nonexpressors' if they don't have any.


Alleles of CYP3A5 include:

Allele Name Rs# Comments Platforms
CYP3A5*1 n/a the only allele that produces high levels of full-length CYP3A5 mRNA and protein
CYP3A5*2 rs28365083 nonfunctional 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, FamilyTreeDNA, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A5*3 rs776746 also known as 6986A>G; the most common nonfunctional allele 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A5*4 rs56411402 23andMe v3, 23andMe v4, Ancestry v2
CYP3A5*6 rs10264272 also known as 14690G>A or 30597G>A; like CYP3A5*3, also leads to a truncated protein, and also nonfunctional 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A5*7 rs41303343 nonfunctional 23andMe v3, 23andMe v4, Ancestry v2
CYP3A5*8 rs55817950 nonfunctional 23andMe v3, 23andMe v4, Ancestry v2
CYP3A5*9 rs28383479 nonfunctional 23andMe v2, 23andMe v3, 23andMe v4
CYP3A5*10 rs41279854 nonfunctional; also known as CYP3A5*3K 23andMe v2, 23andMe v3, HumanOmni1Quad, 23andMe v4
CYP3A5*11 rs72552791 nonfunctional 23andMe v3, 23andMe v4, Ancestry v2
CYP3A5*3D rs56244447 nonfunctional 23andMe v3, 23andMe v4, Ancestry v2
CYP3A5*3F rs28365085 nonfunctional; used to be rs45593941, now merged into this SNP HumanOmni1Quad, Illumina Human 1M
CYP3A5_3705C>T(H30Y) rs28383468 nonfunctional 23andMe v1, 23andMe v2, 23andMe v3, Illumina Human 1M, 23andMe v4
CYP3A5_7298C>A(S100Y) rs41279857 nonfunctional 23andMe v2, 23andMe v3, 23andMe v4

Note that CYP3A5 variant frequencies differ significantly by ethnicity; for example, most Caucasians are non-expressors, whereas many individuals of African descent are expressors for CYP3A5.

One study related to CYP3A5 SNPs was conducted among 200 postmenopausal females who had had a venous thromboembolism(VTE) episode and 500+ matched controls. As has been previously reported, oral estrogen increased VTE risk among all females (odds ratio of 4.5, CI: 2.6-7). Compared with nonusers, the odds ratio for VTE in users of oral estrogen was 3.8 (CI: 2.1-6.7) among patients lacking a CYP3A5*1 allele and 30.0 (CI = 4.4-202.9) among patients with this allele (test for interaction P = 0.04).[PMID 18628519]

A study of 64 Korean patients with schizophrenia under treatment with risperidone found higher plasma concentrations of the active moiety of the drug in CYP3A5 nonexpressors (8.39 ng/mL per milligram) than in expressors (5.30 ng/mL per milligram, P = 0.005).[PMID 19440082]

Promethease tests CYP3A5 status via gs155