Table 2 Phenotype frequencies.

From: Pharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample

Phenotypes

Total sample (N = 77,684)

SMD case-cohort (N = 51,464)

Population cohort (N = 26,220)

N

(%)

N

(%)

N

(%)

CYP2B6

EM

45,177

(58.2)

30,048

(58.4)

15,129

(57.7)

IM

27,949

(36.0)

18,439

(35.8)

9510

(36.3)

PM

4558

(5.9)

2977

(5.8)

1581

(6.0)

CYP2C9

EM

51,612

(66.4)

34,094

(66.3)

17,518

(66.8)

IM

23,347

(30.1)

15,542

(30.2)

7805

(29.8)

PM

2725

(3.5)

1828

(3.6)

897

(3.4)

CYP2C19

UM

2943

(3.8)

1914

(3.7)

1029

(3.9)

RM

20,048

(25.8)

13,279

(25.8)

6769

(25.8)

EM

33,856

(43.6)

22,386

(43.5)

11,470

(43.8)

IM

19,118

(24.6)

12,761

(24.8)

6357

(24.2)

PM

1719

(2.2)

1124

(2.18)

595

(2.3)

CYP2D6

EM

48,455

(62.4)

32,097

(62.4)

16,358

(62.4)

IM

25,980

(33.4)

17,232

(33.5)

8748

(33.4)

PM

3249

(4.2)

2135

(4.2)

1114

(4.3)

CYP3A5

 

Homozygote expresser

490

(0.6)

310

(0.6)

180

(0.7)

Heterozygote expresser

10,161

(13.1)

6587

(12.8)

3574

(13.6)

Non-expresser

67,033

(86.3)

44,567

(86.6)

22,466

(85.7)

DPYD

 

GAS 2

76,144

(98.0)

50,425

(98.0)

25,719

(98.1)

GAS 1.5

535

(0.7)

354

(0.7)

181

(0.7)

GAS 1

<1000

(<1.3)

<690

(<1.4)

<320

(<1.3)

GAS 0.5

<5

(<0.01)

<5

(<0.02)

<5

(<0.03)

GAS 0

<5

(<0.01)

<5

(<0.02)

<5

(<0.03)

FVL

 

WT

72,453

(93.3)

47,989

(93.3)

24,464

(93.3)

Heterozygous carrier

5141

(6.6)

3410

(6.6)

1731

(6.6)

Homozygous carrier

90

(0.1)

65

(0.1)

25

(0.1)

TPMT

EM

70,034

(90.2)

46,401

(90.2)

23,633

(90.1)

IM

7429

(9.6)

4918

(9.6)

2511

(9.6)

PM

221

(0.3)

145

(0.3)

76

(0.3)

UGT1A1

EM

77,229

(99.4)

51,177

(99.4)

26,052

(99.4)

IM

447

(0.6)

<290

(<0.6)

<170

(<0.7)

PM

8

(0.01)

<5

(<0.01)

<5

(<0.02)

VKORC1

WT (NS)

36,831

(47.4)

24,412

(47.4)

12,419

(47.4)

Heterozygous carrier (NS)

28,861

(37.2)

19,166

(37.2)

9695

(37.0)

Homozygous carrier (HS)

11,992

(15.4)

7886

(15.3)

4106

(15.7)

  1. SMD severe mental disorders, EM extensive metabolizer, IM intermediate metabolizer, PM poor metabolizer, UM ultrarapid metabolizer, RM rapid metabolizer, DPYD dihydropyrimidine dehydrogenase, GAS gene activity score, FVL factor V Leiden, WT wild-type carrier, TPMT thiopurine methyltransferase, UGT1A1 UDP-glucuronosyltransferase 1A1, VKORC1 vitamin K epoxide reductase complex 1, NS normal sensitivity, HS high sensitivity.
  2. Numbers with < sign were slightly adjusted to prevent the possibility of calculating the number of individuals < 5.
  3. Phenotype distributions of the total sample and for the SMD case-cohort and population cohort based on the available genotypes.
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