Table 2 Frequencies of predicted high-risk phenotypes within the studied cohort (GS, GSA, and OMNI data combined) and gene-related drug consumption statistics in European Nordic countries

From: Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

Gene

Phenotype

% of individuals (phenotype, source)

% of individuals (gene total)

Number of drug active substances affected

DDDa/1000 inhabitants, (min–max)b

  

GS

GSA

OMNI

   

CYP2C19

Intermediate metabolizer

23.6

23.2

24.0

63.7

10

17.62–66.83

Poor metabolizer

2.44

2.16

2.34

Rapid metabolizer

31.2

30.7

31.2

Ultrarapid metabolizer

6.86

7.40

7.23

CYP2C9

Intermediate metabolizer

25.8

26.1

25.1

28.4

2

7.08–16.26

Poor metabolizer

2.40

2.49

2.32

CYP2D6

Intermediate metabolizer

3.93

3.26

2.96

7.65

16

9.16–15.92

Poor metabolizer

4.96

4.07

3.67

Ultrarapid metabolizer

2.36

0.27

0

CYP3A5

Intermediate metabolizer

13.5

12.8

11.9

13.2

1

0–0.5

Normal metabolizer

0.62

0.51

0.55

CYP4F2

Higher dose phenotype

0.29

0.36

0.33

70.5

1

7.02–16.04

Increased CYP4F2 activity

0.04

0.02

0.03

Lower dose phenotype

71.3

69.8

71.3

DPYD

Intermediate metabolizer

1.36

0.90

0.87

0.92

3

0

Poor metabolizer

0

0.006

0

IFNL3

Unfavorable response

58.5

56.7

56.7

56.8

3

0–0.23

SLCO1B1

Decreased function

34.0

34.9

35.2

40.1

1

6.13–62.9

Poor function

4.38

5.24

5.47

TPMT

Intermediate metabolizer

5.54

6.37

6.33

6.40

3

0.32–1.41

Poor metabolizer

0.21

0.07

0.08

UGT1A1

Intermediate metabolizer

45.9

46.2

45.3

59.0

2

0–0.09

Poor metabolizer

12.3

13.1

12.6

VKORC1

Decreased dose phenotype

56.5

57.5

57.5

57.4

1

7.02–16.04

  1. GS genome sequencing, GSA Global Sequencing Array, OMNI HumanOmniExpress.
  2. aDrug daily dosage.
  3. bMin–max among Estonia, Finland, Sweden, Denmark, Norway.