Table 1 Demographics of the population-based cohorts, (A) DiscovEHR and (B) UKBB.

From: Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts

A

DiscovEHR

 

All Individuals

Individuals with a Hematological Malignancy

Individuals with a Myeloid Malignancy

Risk Factors

Non-heterozygote

Heterozygote

p

Non-heterozygote

Heterozygote

p

Non-heterozygote

Heterozygote

p

n = 170,147

n = 283

n = 4215

n = 11

n = 1018

n = 7

Male, n (%)

67004 (39)

99 (35)

0.13

2230 (53)

8 (73)

0.19

545 (54)

5 (71)

0.46

Smoking, n (%)

96998 (57)

166 (59)

0.56

2623 (62)

7 (64)

1

660 (65)

5 (71)

1

Deceased, n (%)

18848 (11)

43 (15)

0.03

1403 (33)

8 (73)

0.0088

436 (43)

6 (87)

0.047

Current Age, mean (sd)

58.4 (19)

56.9 (19)

0.16

69.7 (15)

70.1 (13)

0.93

71.2 (14)

70.2 (15)

0.86

BMI, mean (sd)

31.0 (7.8)

31.8 (8.5)

0.11

29.2 (7.3)

28.3 (6.3)

0.68

28.6 (7.3)

29.6 (6.6)

0.72

B

UK Biobank

 

All Individuals

Individuals with a Hematological Malignancy

Individuals with a Myeloid Malignancy

Risk Factors

Non-heterozygote

Heterozygote

p

Non-heterozygote

Heterozygote

p

Non-heterozygote

Heterozygote

p

n = 468,265

n = 1049

n = 9497

n = 55

n = 2995

n = 39

Male, n (%)

214613 (46)

491 (47)

0.53

5315 (56)

35 (64)

0.31

1645 (55)

29 (74)

0.024

Smoking, n (%)

281163 (60)

614 (58)

0.35

5969 (62)

34 (62)

0.99

1982 (66)

25 (64)

0.92

Deceased, n (%)

34978 (7.4)

112 (11)

0.000098

2960 (31)

30 (54)

0.00034

1084 (36)

28 (72)

0.000010

Current Age, mean (sd)

70.9 (8.0)

71.1 (8.0)

0.59

73.1 (7.4)

73.2 (6.9)

0.87

73.0 (7.5)

72.9 (6.3)

0.91

BMI, mean (sd)

27.4 (4.8)

27.3 (4.4)

0.40

27.8 (4.8)

27.6 (4.6)

0.72

27.9 (4.9)

26.7 (4.2)

0.09

  1. Information is grouped for all heterozygotes and non-heterozygotes, and those with a hematological malignancy and those with a myeloid malignancy. Bolded p-values denote significant differences between heterozygotes and non-heterozygotes, p < 0.05 by Fisher’s exact test. n number, BMI Body mass index, sd standard deviation.
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