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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