Frequencies of CYP2C19 and CYP2D6 gene variants in a German inpatient sample with mood and anxiety disorders

Figures & data

Figure 1. Phenotype frequencies of CYP2C19 (blue) and CYP2D6 (orange). Chord plot showing CYP2D6/CYP2C19 combination in patients. Only 20.7% were normal metabolizer in both enzymes (dotted line).

Table 1. Frequencies of CYP2D6 and CYP2C19 phenotypes.

		CYP2D6
	Phenotype [N(%)]	PM	IM	NM	UM	n.e.	Total
CYP2C19	PM	1 (0.6%)	2 (1.3%)	1 (0.6%)	–	–	4 (2.6%)
	IM	3 (1.9%)	11 (7.1%)	13 (8.4%)	–	3 (1.9%)	30 (19.5%)
	NM	5 (3.2%)	23 (14.9%)	30 (19.5%)	3 (1.9%)	2 (1.3%)	63 (40.9%)
	RM	2 (1.3%)	18 (11.7%)	24 (15.6%)	1 (0.6%)	3 (1.9%)	48 (31.2%)
	UM	2 (1.3%)	5 (3.2%)	1 (0.6%)	–	1 (0.6%)	9 (5.8%)
	TOTAL	13 (8.4%)	59 (38.3%)	69 (44.8%)	4 (2.6%)	9 (5.8%)	154 (100.0%)

N, Number of patients; N.E., not estimated

Figure 2. Frequencies of actionable gene variants in CYP2C19 (blue) and CYP2D6 (orange). Chord plot showing CYP2D6/CYP2C19 combination in patients. 45 patients (31.0%) carried an actionable PGx variant on both genes (bolded line). actVar; actionable Variant.

Table 2. Frequencies of not actionable/actionable gene variants in CYP2D6 and CYP2C19 found in different cohorts.

	CYP2D6 genotype			CYP2C19 genotype
	Not actionable	Actionable		Not actionable	Actionable
German inpatients	69 (47.6%)	76 (52.4%)		61 (42.1%)	84 (57.9%)
European reference cohort (CPIC 2021; PharmGKB 2023c, 2023d)	48.7%	47.6%		39.6%	60.4%
	p = .87			p = .63
Li et al. (2023) (Biogeographic group of Europeans)	73.20%		17.24%	40.01%	59.79%
	p < .001			p = .1
Hahn et al. (2021) (German psychiatric inpatients)	58 (53.7%)	50 (46.3%)		32 (32.0%)	68 (68.0%)
	p = .40			p = .14
Lunenburg et al. (2021) (Danish population-based case-cohort sample)	48,455 (62.4%)	29,229 (37.6%)		33,856 (43.6%)	43,828 (56.4%)
	p < .001			p = .78

Two-tailed Z-test was used for calculate differences. p ≤ .05 was considered significant. In the Li et al. cohort (Li et al. 2023), we used information on the biogeographic group of Europeans. In the European reference cohort (PharmGKB 2023d), and in the Li et al. cohort (Li et al. 2023) for CYP2D6 in 3.7%, and 9.56% the phenotype was not estimated, or indeterminate. In the Li et al. cohort (Li et al. 2023) for CYP2C19 in 0.2% the phenotype was likely intermediate, likely poor, indeterminate, or others, and therefore, not assignable to clearly actionable, or not actionable variant.

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