Table 1.
Description of 139 eligible meta-analyses of GWA studies
| Discovery Stage | Replication Stage | |||
|---|---|---|---|---|
| Disease/Trait | Sample Size a | Ancestry | Sample Size a | Ancestry |
| Bone mineral density- Femoral neck (S19) | 32,961 | EUR, AS | 50,933 | EUR, AS |
| Bone mineral density- Lumbar spine (S19) | 31,800 | EUR, AS | 50,933 | EUR, AS |
| Head circumference (infant) (S77) | 10,768 | EUR | 8,321 | EUR |
| Obesity (childhood) (S9) | 13,848 (5,530/8,318) | EUR | 6,901 (2,818/4,083) | EUR |
| Brachial circumference (S7) | 18,753 | EUR | 3,623 | EUR |
| Adiponectin levels (S12) | 35,355 | EUR, AS, AFR | NA | NA |
| Creatinine-based estimated GFR (S55) | 74,354 | EUR | 64,356 | EUR, AFR |
| Cystatine-based estimated GFR (S55) | 22,937 | EUR | 3,709 | EUR |
| Chronic kidney disease (S55) | 68,678 (6,271/62,407) | EUR | 64,356 | EUR, AFR |
| Rheumatoid arthritis (S52) | 20,965 (4,074/16,891) | AS | 52,669 (10,816/41,853) | EUR, AS |
| Platelet count (S59) | 16,388 | AFR | 18,371 | EUR, HIS |
| Metabolic syndrome (S40) | 11,616 (2,637/7,927) | EUR | NA | NA |
| Body mass index (S85) | 27,715 | AS | 55,333 | AS |
| Menopause (age at onset) (S75) | 38,968 | EUR | 14,435 | EUR |
| Atopic dermatitis (S53) | 26,171 (5,606/20,565) | EUR | 25,252 (5,419/19,833) | EUR |
| Ankle-brachial index (S48) | 41,692 | EUR | 16,717 | EUR |
| Multiple sclerosis (S54) | 17,698 (5,545/12,153) | EUR | NA | NA |
| Mean platelet volume (S25) | 18,600 | EUR | 18,838 | EUR |
| Platelet count (S25) | 48,666 | EUR | 18,838 | EUR |
| Aortic stiffness (carotid-femoral pulse wave velocity) (S46) | 20,634 | EUR | 5,306 | EUR |
| Allergic rhinitis (S60) | 12,898 (3,933/8,965) | EUR | NA | NA |
| IgE sensitization to grass (S60) | 12,898 (3,933/8,965) | EUR | NA | NA |
| Alanine aminotransferase (ALT) (S10) | 45,596 | EUR, AS | 8112 | EUR |
| Alkaline phosphatase (ALP) (S10) | 56,415 | EUR, AS | 8112 | EUR |
| Gamma glutamyl transpeptidase (γ-GT) (S10) | 61,089 | EUR, AS | 8112 | EUR |
| Lipoprotein-associated phospholipase A2 mass (S26) | 12,126 | EUR | NA | NA |
| Lipoprotein-associated phospholipase A2 activity (S26) | 11,664 | EUR | NA | NA |
| Height (S49) | 20,427 | AFR | 16,436 | AFR |
| Type 1 diabetes (S8) | 26,890 (9,934/16,956) | EUR | 3,360 (1,120/2,240) | EUR |
| Pulmonary function (S70) | 48,201 | EUR | 46,411 | EUR |
| Bipolar disorder (S64) | 16,731 (7,481/9,250) | EUR | 46,918 (4,496/42,422) | EUR |
| Common carotid intima media thickness (S5) | 31,211 | EUR | 10,403 | EUR |
| Internal carotid intima media thickness (S5) | 10,962 | EUR | NA | NA |
| Plaque (S5) | 25,179 | EUR | 6,013 | EUR |
| Diastolic blood pressure (S31) | 69,395 | EUR | 133,361 | EUR |
| Systolic blood pressure (S31) | 69,395 | EUR | 133,361 | EUR |
| Pulse pressure (S82) | 74,064 | EUR | 48,607 | EUR |
| Mean arterial pressure (S82) | 74,064 | EUR | 48,607 | EUR |
| Coffee consumption (S1) | 18,176 | EUR | 7,929 | EUR |
| Type 2 diabetes (S39) | 20,019 (5,561/14,458) | AS | 85,685 (21,300/64,385) | EUR, AS |
| Proinsulin levels (S76) | 10,701 | EUR | 16,378 | EUR |
| Aging (time to death) (S83) | 25,007 | EUR | 10,411 | EUR |
| Aging (time to event) (S83) | 16,995 | EUR | NA | NA |
| Ankylosing spondylitis (S21) | 11,802 (3,023/8,779) | EUR | 6,594 (2,111/4,483) | EUR |
| Sudden cardiac arrest (S3) | 22,925 (1,283/21,642) | EUR | 14,265 (3,119/11,146) | EUR |
| White blood cell count (S61) | 16,388 | AFR | 37,827 | EUR, AS, HIS |
| Adiposity (% body fat) (S38) | 36,626 | EUR, AS | 39,576 | EUR |
| Diastolic blood pressure (S35) | 19,608 | AS | 30,765 | AS |
| Systolic blood pressure (S35) | 19,608 | AS | 30,765 | AS |
| Glioma (S62) | 11,582 (4,147/7,435) | EUR | NA | NA |
| D-dimer levels (S69) | 21,052 | EUR | NA | NA |
| Dehydroepiandrosterone sulphate (S88) | 14,846 | EUR | NA | NA |
| Caffeine consumption (S11) | 47,431 | EUR | NA | NA |
| Alcohol consumption (S65) | 26,316 | EUR | 21,185 | EUR |
| Alzheimer’s disease (S28) | 20,373 (6,688/13,685) | EUR | 39,343 (13,182/26,161) | EUR |
| Migraine (S42) | 10,980 (2,446/8,534) | EUR | 8,731 (2,957/5,774) | EUR |
| Coronary heart disease (S66) | 86,995 (22,233/64,762) | EUR | 56,508 (28,834/27,674) | EUR |
| Urinary albumin excretion (S6) | 31,580 | EUR | 38,258 | EUR, AFR |
| C-reactive protein (S14) | 66,185 | EUR | 16,540 | EUR |
| Ulcerative colitis (S2) | 26,405 (6,687/19,718) | EUR | 22,545 (9,628/12,917) | EUR |
| Parkinson’s disease (S32) | 17,352 (5,333/12,019) | EUR | 16,060 (7,053/9,007) | EUR |
| IGF-1 (S34) | 10,280 | EUR | NA | NA |
| IGFBP-3 (S34) | 10,018 | EUR | NA | NA |
| Personality dimensions (S13) | 17,375 | EUR | 3,294 | EUR |
| Renal cell carcinoma (S58) | 12,277 (3,772/8,505) | EUR | 7,116 (2,198/4,918) | EUR |
| Menarche (age at onset) (S18) | 87,802 | EUR | 14,731 | EUR |
| Crohn’s disease (S22) | 21,389 (6,333/15,056) | EUR | 29,720 (15,694/14,026) | EUR |
| QRS duration (S72) | 40,407 | EUR | 7,170 | EUR |
| Osteoarthritis (knee) (S20) | 38,280 (2,371/35,909) | EUR | 15,296 (5,521/9,775) | EUR, AS |
| Retinal venular caliber (S30) | 15,358 | EUR | 6,673 | EUR |
| Retinal arteriolar caliber (S30) | 15,358 | EUR | 6,673 | EUR |
| Waist-hip ratio (S27) | 77,167 | EUR | 113,636 | EUR |
| Body mass index (S73) | 123,865 | EUR | 125,931 | EUR |
| Urate levels (S86) | 28,283 | EUR | NA | NA |
| Gout (S86) | 28,283 | EUR | NA | NA |
| Height (S41) | 133,653 | EUR | 50,074 | EUR |
| Asthma (S47) | 26,475 (10,365/16,110) | EUR | NA | NA |
| Glycated hemoglobin (S71) | 46,368 | EUR | 10448 | EUR |
| Calcium levels (S50) | 20,611 | EUR | NA | NA |
| Magnesium levels (S45) | 15,366 | EUR | 8,463 | EUR |
| Sodium (S45) | 11,552 | EUR | 8,463 | EUR |
| Potassium (S45) | 13,683 | EUR | 8,463 | EUR |
| Triglycerides (S78) | 96,598 | EUR | 51,875 | EUR, AS, AFR |
| HDL cholesterol (S78) | 99,900 | EUR | 51,875 | EUR, AS, AFR |
| LDL cholesterol (S78) | 95,454 | EUR | 51,875 | EUR, AS, AFR |
| Total cholesterol (S78) | 100,184 | EUR | 51,875 | EUR, AS, AFR |
| Resting heart rate (RR interval) (S17) | 38,991 | EUR | NA | NA |
| Type 2 diabetes (S81) | 47,117 (8,130/38,987) | EUR | 94,337 (34,412/59,925) | EUR |
| Phosphorus levels (S36) | 16,264 | EUR | 5,444 | EUR |
| Vitamin D insufficiency (S84) | 16,125 | EUR | 17,871 | EUR |
| Rheumatoid arthritis (S74) | 25,708 (5,539/20,169) | EUR | 15,574 (6,768/8,806) | EUR |
| Heart failure (S68) | 20,926 | EUR | NA | NA |
| Smoking behavior - Cigarettes per day (S79) | 38,181 | EUR | 35,672 | EUR |
| Smoking behavior - Ever vs never smoker (S79) | 69,409 (39,022/30,387) | EUR | 68,988 (NR/NR) | EUR |
| Smoking behavior - Former vs current smokers (S79) | 35,845 (20,619/15,226) | EUR | 23,646 | EUR |
| Smoking behavior - Age of smoking initiation (S79) | 22,438 | EUR | NA | NA |
| Birth weight (S23) | 10,623 | EUR | 27,591 | EUR |
| Intracranial aneurysm (S87) | 15,295 (2,780/12,515) | EUR | 4,777 (3,111/1,666) | AS |
| Urinary bladder cancer (S37) | 41,199 (1,889/39,310) | EUR | 8,650 (2,691/5,959) | EUR |
| Coagulation factor VII (S67) | 15422 | EUR | 3678 | EUR |
| Von Wilenbrand factor (S67) | 17596 | EUR | 6307 | EUR |
| Coagulation factor VIII (S67) | 15279 | EUR | 2381 | EUR |
| Height (S51) | 19,633 | AS | NA | NA |
| White blood cell count (S33) | 14,677 | AS | NA | NA |
| Red blood cell count (S33) | 14,392 | AS | NA | NA |
| Hemoglobin (S33) | 14,402 | AS | NA | NA |
| Hematocrit (S33) | 14,395 | AS | NA | NA |
| Mean corpuscular volume (S33) | 14,364 | AS | NA | NA |
| Mean corpuscular hemoglobin (S33) | 14,362 | AS | NA | NA |
| Mean corpuscular hemoglobin concentration (S33) | 14,377 | AS | NA | NA |
| Platelet count (S33) | 14,806 | AS | NA | NA |
| Gamma glutamyl transpeptidase (γ-GT) (S33) | 10,090 | AS | NA | NA |
| Aspartate aminotransferase (AST) (S33) | 13,898 | AS | NA | NA |
| Alanine aminotransferase (ALT) (S33) | 13,696 | AS | NA | NA |
| Total protein (S33) | 10,047 | AS | NA | NA |
| Blood urea nitrogen (S33) | 14,347 | AS | NA | NA |
| Serum creatinine (S33) | 14345 | AS | NA | NA |
| Fasting glucose (S16) | 46,186 | EUR | 76,558 | EUR |
| Fasting insulin (S16) | 38,238 | EUR | 76,558 | EUR |
| HOMA-B (S16) | 36,466 | EUR | 76,558 | EUR |
| HOMA-IR (S16) | 37,037 | EUR | 76,558 | EUR |
| Major mood disorders (S44) | 15,754 (6,686/9,068) | EUR | 4,677 (1,930/2,747) | EUR |
| 2h glucose challenge (S63) | 15,234 | EUR | 30,620 | EUR |
| PR interval (S57) | 28,517 | EUR | NA | NA |
| Hemoglobin (S24) | 24,731 | EUR | 9,456 | EUR |
| Hematocrit (S24) | 24,731 | EUR | 9,456 | EUR |
| Mean corpuscular volume (S24) | 21,456 | EUR | 9,456 | EUR |
| Mean corpuscular hemoglobin (S24) | 13,329 | EUR | 9,456 | EUR |
| Mean corpuscular hemoglobin concentration (S24) | 13,329 | EUR | 9,456 | EUR |
| Red blood cell count (S24) | 13,329 | EUR | 9,456 | EUR |
| Atrial fibrillation (S4) | 40,518 (3,413/37,105) | EUR | 6,218 (2,145/4,073) | EUR |
| Left ventricular mass (S80) | 12,612 | EUR | 4,094 | EUR |
| Left ventricle internal diastolic dimensions (S80) | 12,612 | EUR | 4,094 | EUR |
| Left ventricle wall thickness (S80) | 12,612 | EUR | 4,094 | EUR |
| Left ventricle systolic dysfunction (S80) | 12,612 | EUR | 4,094 | EUR |
| Adiposity- waist circumference (S43) | 38,580 | EUR | 102,064 | EUR |
| Stroke (S29) | 19,602 (3,810/15,792) | EUR | 7,269 (935/6,334) | EUR, AFR |
| Fibrinogen (S15) | 22,096 | EUR | 17,686 | EUR |
| QT interval (S56) | 15,842 | EUR | 13,602 | EUR |
AFR, African; AS; Asian; EUR, European; GFR, glomerular filtration rate; GWA, genome-wide association; HIS, Hispanic; HOMA-B, homeostatic model assessment beta cell function; HOMA-IR, homeostatic model assessment insulin resistance
NA, not applicable because no replication was performed
a
Sample size in discovery and replication stages is presented as total number of participants for continuous traits and as total number of participants (number of cases/number of controls) for binary traits.