Table 4.

Association of TOPMed/CHARGE fibrinogen PRS with PheCodes in MVP

Trait informationMVP EURMVP AFR
PheCodeDisease categoryDescriptionNo. of cases/controlsPRS (MEGA)PRS (EUR)No. of cases/controlsPRS (MEGA)PRS (AFR)
ORP valueORP valueORP valueORP value
phe_452 Circulatory system Other venous embolism and thrombosis 26 792/421 526 0.952 2.26E-15  0.952 1.35E-15  7585/111 531 0.977 5.25E-02 0.972 1.76E-02  
phe_452_2 Circulatory system Deep vein thrombosis 14 944/438 829 0.941 9.78E-14  0.941 6.88E-14  4498/116 209 0.964 1.60E-02
 
0.962 1.00E-02§  
phe_274_1 Endocrine or metabolic Gout 42 682/406 941 1.031 2.96E-09  1.032 1.82E-09  14 511/104 430 1.022 1.51E-02  1.012 1.98E-01 
phe_274 Endocrine or metabolic Gout and other crystal arthrop 44 888/402 674 1.030 4.02E-09  1.031 2.57E-09  14 941/103 648 1.022 1.43E-02  1.012 1.92E-01 
phe_681 Dermatologic Superficial cellulitis and abscess 74 338/335 942 0.979 1.38E-07  0.979 1.80E-07  19 580/88 222 0.989 1.51E-01 0.988 1.38E-01 
phe_1089 Other Acquired absence of limb 5 466/454 009 0.940 3.54E-06  0.940 3.83E-06  1675/120 554 0.998 9.50E-01 1.010 6.93E-01 
phe_681_5 Dermatologic Cellulitis and abscess of leg, except foot 20 789/421 257 0.970 1.37E-05  0.970 1.35E-05  3302/115 194 1.000 9.85E-01 1.004 8.38E-01 
phe_280 Hematopoietic Iron-deficiency anemias 35 686/404 586 1.024 1.94E-05  1.024 3.20E-05  14 819/100 241 1.038 3.97E-05  1.034 1.71E-04§  
phe_707_2 Dermatologic Chronic ulcer of leg or foot 18 477/432 947 0.969 2.00E-05  0.969 2.37E-05  4470/115 706 0.994 6.73E-01 0.993 6.54E-01 
phe_286_81 Hematopoietic Primary hypercoagulable state 2 498/457 232 0.921 2.51E-05  0.920 2.03E-05  529/121 823 0.957 3.11E-01 0.947 2.07E-01 
phe_286_2 Hematopoietic Encounter for long-term (current) use of anticoagulants 42 101/409 581 0.979 3.04E-05  0.978 2.00E-05  7617/112 768 0.963 1.49E-03§  0.960 5.44E-04§  
phe_286 Hematopoietic Coagulation defects 12 517/436 641 0.963 3.30E-05  0.963 3.18E-05  2804/116 917 0.936 4.47E-04§  0.934 3.01E-04§  
phe_286_8 Hematopoietic Hypercoagulable state 2 691/456 755 0.925 3.52E-05  0.925 3.18E-05  586/121 682 0.964 3.70E-01 0.952 2.35E-01 
Trait informationMVP EURMVP AFR
PheCodeDisease categoryDescriptionNo. of cases/controlsPRS (MEGA)PRS (EUR)No. of cases/controlsPRS (MEGA)PRS (AFR)
ORP valueORP valueORP valueORP value
phe_452 Circulatory system Other venous embolism and thrombosis 26 792/421 526 0.952 2.26E-15  0.952 1.35E-15  7585/111 531 0.977 5.25E-02 0.972 1.76E-02  
phe_452_2 Circulatory system Deep vein thrombosis 14 944/438 829 0.941 9.78E-14  0.941 6.88E-14  4498/116 209 0.964 1.60E-02
 
0.962 1.00E-02§  
phe_274_1 Endocrine or metabolic Gout 42 682/406 941 1.031 2.96E-09  1.032 1.82E-09  14 511/104 430 1.022 1.51E-02  1.012 1.98E-01 
phe_274 Endocrine or metabolic Gout and other crystal arthrop 44 888/402 674 1.030 4.02E-09  1.031 2.57E-09  14 941/103 648 1.022 1.43E-02  1.012 1.92E-01 
phe_681 Dermatologic Superficial cellulitis and abscess 74 338/335 942 0.979 1.38E-07  0.979 1.80E-07  19 580/88 222 0.989 1.51E-01 0.988 1.38E-01 
phe_1089 Other Acquired absence of limb 5 466/454 009 0.940 3.54E-06  0.940 3.83E-06  1675/120 554 0.998 9.50E-01 1.010 6.93E-01 
phe_681_5 Dermatologic Cellulitis and abscess of leg, except foot 20 789/421 257 0.970 1.37E-05  0.970 1.35E-05  3302/115 194 1.000 9.85E-01 1.004 8.38E-01 
phe_280 Hematopoietic Iron-deficiency anemias 35 686/404 586 1.024 1.94E-05  1.024 3.20E-05  14 819/100 241 1.038 3.97E-05  1.034 1.71E-04§  
phe_707_2 Dermatologic Chronic ulcer of leg or foot 18 477/432 947 0.969 2.00E-05  0.969 2.37E-05  4470/115 706 0.994 6.73E-01 0.993 6.54E-01 
phe_286_81 Hematopoietic Primary hypercoagulable state 2 498/457 232 0.921 2.51E-05  0.920 2.03E-05  529/121 823 0.957 3.11E-01 0.947 2.07E-01 
phe_286_2 Hematopoietic Encounter for long-term (current) use of anticoagulants 42 101/409 581 0.979 3.04E-05  0.978 2.00E-05  7617/112 768 0.963 1.49E-03§  0.960 5.44E-04§  
phe_286 Hematopoietic Coagulation defects 12 517/436 641 0.963 3.30E-05  0.963 3.18E-05  2804/116 917 0.936 4.47E-04§  0.934 3.01E-04§  
phe_286_8 Hematopoietic Hypercoagulable state 2 691/456 755 0.925 3.52E-05  0.925 3.18E-05  586/121 682 0.964 3.70E-01 0.952 2.35E-01 

OR, odds ratio per SD increase in the PRS.

∗Analyses were only run if there were >500 cases or controls for a specific PheCode. Bonferroni threshold was determine separately in each ancestry group. EUR had 1426 PheCodes analyzed with an estimated 965 independent traits; therefore, Bonferroni = 0.05/965 = 5.18E-05. AFR had 1061 PheCodes analyzed with an estimated 690 independent traits; therefore, Bonferroni = 0.05/690 = 7.25E-05.

P ≤ Bonferroni threshold.

§

01 ≤ P < Bonferroni.

05 ≤ P < .01.

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