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Table 1 Statistically significant associations for mCAs and incident disease associations.

From: Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank

mCA

Disease

N

Percent with preceding cancer

Odds ratio [95% Confidence Interval]

P-value

Autosome

C91 Lymphoid leukaemia

616

35.47

23.74 [20.21–27.88]

< 5 × 10–324

Autosome

D47 Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

729

37.5

5.29 [4.38–6.39]

1.97 × 10–67

Autosome

C83 Diffuse non-Hodgkin's lymphoma

903

50.67

4.62 [3.88–5.5]

9.64 × 10–66

Autosome

D45 Polycythaemia vera

201

21.47

12.26 [9.1–16.51]

3.37 × 10–61

Autosome

C85 Other and unspecified types of non-Hodgkin's lymphoma

859

59.02

4.28 [3.56–5.15]

1.27 × 10–53

Autosome

D70 Agranulocytosis

4637

72.65

2.24 [2.02–2.49]

9.73 × 10–51

Autosome

D46 Myelodysplastic syndromes

302

47.86

6.19 [4.72–8.13]

1.65 × 10–39

Autosome

C92 Myeloid leukaemia

381

47.22

5.19 [4–6.73]

1.66 × 10–35

Autosome

R16 Hepatomegaly and splenomegaly, not elsewhere classified

611

36.33

3.78 [2.99–4.77]

9.44 × 10–29

Autosome

D69 Purpura and other haemorrhagic conditions

3090

38.04

2.01 [1.76–2.29]

2.02 × 10–25

Autosome

A41 Other septicaemia

10,144

52.41

1.54 [1.42–1.67]

2.43 × 10–25

Autosome

D80 Immunodeficiency with predominantly antibody defects

248

42.63

5.44 [3.91–7.56]

7.27 × 10–24

Autosome

D75 Other diseases of blood and blood-forming organs

1059

25.52

2.77 [2.27–3.38]

9.33 × 10–24

Autosome

C95 Leukaemia of unspecified cell type

50

76.92

13.37 [7.43–24.06]

4.92 × 10–18

Autosome

D72 Other disorders of white blood cells

794

27.25

2.66 [2.1–3.36]

2.97 × 10–16

Autosome

J18 Pneumonia, organism unspecified

17,638

29.62

1.32 [1.24–1.41]

3.19 × 10–16

Autosome

C94 Other leukaemias of specified cell type

32

70.59

14.93 [7.2–30.96]

3.73 × 10–13

Autosome

D61 Other aplastic anaemias

879

46.57

2.24 [1.78–2.82]

6.94 × 10–12

Autosome

Z51 Other medical care

23,428

63.39

1.24 [1.16–1.32]

1.38 × 10–11

Autosome

C84 Peripheral and cutaneous T-cell lymphomas

154

41.08

4.37 [2.83–6.72]

2.27 × 10–11

Autosome

C93 Monocytic leukaemia

51

80.77

6.61 [3.5–12.47]

5.89 × 10–9

Autosome

J90 Pleural effusion, not elsewhere classified

10,097

42.9

1.29 [1.18–1.41]

1.06 × 10–8

Autosome

C88 Malignant immunoproliferative diseases

121

69.7

4.17 [2.55–6.83]

1.43 × 10–8

Autosome

C82 Follicular [nodular] non-Hodgkin's lymphoma

347

37.96

2.71 [1.91–3.83]

1.94 × 10–8

Autosome

Z85 Personal history of malignant neoplasm

20,384

88.65

1.21 [1.13–1.29]

1.98 × 10–8

Autosome

J98 Other respiratory disorders

12,465

29.57

1.26 [1.16–1.37]

4.06 × 10–8

Autosome

Y43 Primarily systemic agents

2494

93.78

1.58 [1.34–1.86]

5.24 × 10–8

Autosome

B25 Cytomegaloviral disease

171

51.13

3.63 [2.27–5.81]

7.78 × 10–8

Autosome

N17 Acute renal failure

14,465

42.7

1.22 [1.13–1.32]

1.61 × 10–7

Autosome

E87 Other disorders of fluid, electrolyte and acid–base balance

15,028

38.77

1.22 [1.13–1.31]

2.40 × 10–7

Autosome

D64 Other anaemias

16,970

30.46

1.2 [1.11–1.29]

9.06 × 10–7

Autosome

Z94 Transplanted organ and tissue status

724

44.28

1.99 [1.5–2.65]

1.94 × 10–6

Autosome

D59 Acquired haemolytic anaemia

177

38.52

2.96 [1.85–4.73]

5.70 × 10–6

Autosome

R50 Fever of unknown origin

3504

48.62

1.4 [1.21–1.63]

6.79 × 10–6

Autosome

B96 Other bacterial agents as the cause of diseases classified to other chapters

9917

33.45

1.23 [1.12–1.35]

8.21 × 10–6

Autosome

R60 Oedema, not elsewhere classified

2075

42.78

1.49 [1.25–1.78]

1.11 × 10–5

Autosome

E83 Disorders of mineral metabolism

5293

43.15

1.3 [1.15–1.47]

2.23 × 10–5

Autosome

R22 Localised swelling, mass and lump of skin and subcutaneous tissue

1175

28.16

1.66 [1.31–2.11]

2.82 × 10–5

Autosome

G72 Other myopathies

258

28.99

2.45 [1.6–3.74]

3.29 × 10–5

Autosome

T86 Failure and rejection of transplanted organs and tissues

232

49.76

2.6 [1.65–4.08]

3.39 × 10–5

mLOX

C91 Lymphoid leukaemia

236

35.47

2.45 [1.7–3.53]

1.40 × 10–6

mLOX

J03 Acute tonsillitis

1167

4.97

1.78 [1.39–2.27]

4.85 × 10–6

mLOY

E11 Non-insulin-dependent diabetes mellitus

14,110

21.37

0.8 [0.77–0.84]

3.67 × 10–22

mLOY

I10 Essential (primary) hypertension

46,694

20.37

0.91 [0.89–0.94]

2.91 × 10–11

mLOY

H36 Retinal disorders in diseases classified elsewhere

1359

20.69

0.65 [0.56–0.75]

1.46 × 10–9

mLOY

E66 Obesity

12,647

22.40

0.87 [0.83–0.91]

1.12 × 10–8

mLOY

E14 Unspecified diabetes mellitus

1642

11.07

0.7 [0.61–0.8]

9.34 × 10–8

mLOY

M10 Gout

5601

14.55

0.87 [0.81–0.93]

3.74 × 10–5

mLOY

E16 Other disorders of pancreatic internal secretion

1641

30.03

0.78 [0.69–0.88]

4.28 × 10–5

mLOY

G63 Polyneuropathy in diseases classified elsewhere

646

29.78

0.65 [0.53–0.8]

4.29 × 10–5

  1. Only PheWAS significant associations are reported (P < 3.88 × 10–5 for autosomal, P < 4.43 × 10–5 for mLOX, and P < 4.39 × 10–5 for mLOY). All PheWAS associations are adjusted for age, age2, smoking, and sex (only for autosomal mCA analyses). We define percent with preceding cancer as the percentage of individuals who have been diagnosed with any cancer prior to the diagnosis of that disease