CYP2C9

From SNPedia

CYP2C9 is a member of the IIC subfamily of the cytochrome p450 genes, responsible for metabolizing numerous drugs, such as phenytoin, tamoxifen, warfarin, fluvastin, and many nonsteroidal anti-inflammatory agents such as aspirin, ibuprofen and naproxen. CYP2C9 variants may process such drugs differently.

SNPs in CYP2C9 include:

• rs1057910; two variants encode the CYP2C9*1 and CYP2C9*3 alleles

• rs1799853, versions of which encode CYP2C9*2 alleles

A recent FDA action stipulates that the possibility of genetic testing for SNPs in the CYP2C9 gene be included on the label for the medicine known as warfarin (trade name Coumadin).

Plavix, the trade name for clopidogrel, is a drug commonly prescribed to reduce the chance of a type of heart disease (acute coronary syndrome), and it inhibits CYP2C9 at high enough doses. This may therefore interfere with the metabolism of drugs processed by CYP2C9, and individuals with CYP2C9 SNP variants that encode lower metabolizers to begin with would presumably be at greater risk for such side-effects when taking Plavix at the same time as drugs metabolized by CYP2C9.

A more detailed list of CYP2C9 SNPs includes:

Allele Name	Defining Name/Change	Rs#	Comments	Enzyme Activity	Platforms
CYP2C9*1			Wild-type	normal
CYP2C9*2	430C>T	rs1799853	R144C	inactive	23andMe v1, 23andMe v2, HumanOmni1Quad
CYP2C9*3	1075A>C	rs1057910	I359L	inactive	23andMe v1, Illumina Human 1M, 23andMe v2
CYP2C9*4	1076T>C	rs56165452	I359T	decreased
CYP2C9*5	1080C>G	rs28371686	D360E	decreased	23andMe v1, 23andMe v2, HumanOmni1Quad
CYP2C9*6	818delA	rs9332131	273frameshift	inactive	23andMe v1, 23andMe v2, HumanOmni1Quad, Illumina Human 1M
CYP2C9*7	55C>A	rs67807361	L19I
CYP2C9*8	449G>A	rs7900194	R150H	decreased	23andMe v2
CYP2C9*9	752A>G	rs2256871	H251R		23andMe v1, 23andMe v2, HumanOmni1Quad
CYP2C9*10	815A>G	rs9332130	E272G		23andMe v1, 23andMe v2, HumanOmni1Quad, Illumina Human 1M
CYP2C9*11	1003C>T	rs28371685	R335W	decreased	23andMe v1, 23andMe v2, HumanOmni1Quad, Illumina Human 1M
CYP2C9*12	1465C>T	rs9332239	P489S		23andMe v1, 23andMe v2, HumanOmni1Quad
CYP2C9*13	269T>C	rs72558187	L90P	decreased	HumanOmni1Quad
CYP2C9*14	374G>A	rs72558189	R125H
CYP2C9*15	485C>A	rs72558190	S162X	inactive
CYP2C9*25	353_362delAGAAATGGAA	rs72558188	118frameshift	inactive
CYP2C9_42612A>G	42612A>G	rs1057909	Y358C		23andMe v1, 23andMe v2, HumanOmni1Quad, Illumina Human 1M
CYP2C9_50196C>T	50196C>T	rs2017319	A441A		23andMe v1, 23andMe v2, HumanOmni1Quad, Illumina Human 1M
CYP2C9_50298A>T	50298A>T	rs1057911	G475G		HumanOmni1Quad

In one of the largest "negative" studies reported to date, three independent studies totaling over 52,000 individuals found no association between CYP2C9 polymorphisms (specifically, the *2 and *3 alleles) and risk of subclinical atherosclerosis, ischemic vascular disease or death after ischemic heart disease.[PMID 19652664]