Table 3.

Pharmacogenetic association with exemestane concentration (n=231)

Gene	Common Allele Name	rsID	Homozygous Wild-type		Heterozygous		Homozygous Variant		Relative % change per variant allele (95% CI)	Univariate additive p-value	Adjusted1 additive p-value
			N	Median Concentration (range)	N	Median Concentration (range)	N	Median Concentration (range)
CYP3A4	*22	rs35599367	205	7.7 (2.5 – 42.2)	26	10.7 (2.8 – 72.0)	0	--	+54% (14%, 109%)	<0.01	<0.01
	*1G	rs2242480	176	7.8 (2.5 – 72.0)	43	8.1 (2.5 – 30.5)	11	9.1 (2.5 – 21.8)	−4% (−20%, 15%)	0.65	0.37
CYP4A11	−845A/G	rs9332978	200	7.7 (2.5 – 72.0)	31	9.8 (2.5 – 21.3)	0	--	+14% (−15%, 51%)	0.38	0.59
AKR1C3	E77G	rs11551177	Excluded from analysis due to minor allele frequency = 0.002
AKR1C4	Leu311Val	rs17134592	167	8.1 (2.5 – 72.0)	61	7.5 (2.5 – 22.4)	2	4.9 (3.5 – 6.3)	−8% (−25%, 13%)	0.42	0.10
AKR7A2	A142T	rs1043657	192	7.7 (2.5 – 72.0)	37	8.0 (2.5 – 27.5)	2	22.4 (2.5 – 42.2)	−1% (−22%, 26%)	0.94	0.97
CYP1A1	15:747248352	rs2606345	94	7.5 (2.5 – 39.0)	103	8.3 (2.5 – 72.0)	34	7.7 (2.5 – 24.4)	0% (−13%, 15%)	1.0	0.31
	*2	rs4646903	183	7.5 (2.5 – 72.0)	45	8.3 (2.5 – 30.5)	2	12.3 (12.2 – 12.4)	+16% (−7%, 46%)	0.20	0.24
CYP1A2	*1C	rs2069514	Excluded from analysis due to failed genotyping (all calls heterozygous)
CYP1B1	Arg48Gly	rs10012	110	7.8 (2.5 – 42.2)	100	7.9 (2.5 – 72.0)	19	7.5 (2.5 – 13.7)	−4% (−18%, 12%)	0.59	0.54
	Ala119Ser	rs1056827	109	7.8 (2.5 – 42.2)	102	7.8 (2.5 – 72.0)	19	9.0 (2.5 – 13.7)	−1% (−15%, 16%)	0.91	0.73
	2:380803672	rs162555	153	7.5 (2.5 – 72.0)	67	9.1 (2.5 – 37.8)	11	3.7 (2.5 – 27.1)	6% (−11%, 26%)	0.51	0.57

¹Adjustment for race, elevated aminotransferases, prior chemotherapy, and BMI in multivariable model.

²Chromosomal location (Chromosome : position) using genome build GRCh38.p2 annotation release 107 from dbSNP)