Table 1.
Complex Traits and Corresponding Mendelian Disorders
| Complex Trait | Abbreviation | No. of GWAS Genes | Matched Mendelian Disorder(s) |
|---|---|---|---|
| Celiac disease26 | CEL | 34 | immune dysregulation |
| Crohn disease27 | CD | 239 | |
| Inflammatory bowel disease27 | IBD | 368 | |
| Ulcerative colitis28 | UC | 202 | |
| Primary biliary cirrhosis29 | PBC | 149 | |
| Rheumatoid arthritis (European)30 | RA | 297 | |
| Multiple sclerosis31 | MS | 160 | |
| Autism32 | AUT | 2 | monogenic autism |
| Hemoglobin33 | HB | 89 | hematologic disorders |
| Mean cell hemoglobin33 | MCH | 164 | |
| Mean cell hemoglobin concentration33 | MCHC | 12 | |
| Mean corpuscular volume33 | MCV | 180 | |
| Mean platelet volume28 | MPV | 102 | |
| Red blood cell count33 | RBC | 107 | |
| Systemic lupus erythematosus34 | SLE | 286 | |
| Birthweight35 | BW | 179 | growth defects |
| Height36 | HGT | 2361 | |
| Femoral neck bone mineral density37 | FN | 58 | bone and uric acid disorders |
| Forearm bone mineral density37 | FA | 8 | |
| Lumbar spine bone mineral density37 | LS | 67 | |
| Serum urate concentration38 | URT | 161 | |
| Packed cell volume33 | PCV | 53 | disorders of platelet function |
| Platelet count28 | PLT | 134 | |
| Coronary artery disease39 | CAD | 132 | cardiovascular disease |
| High-density lipoprotein40 | HDL | 464 | |
| Low-density lipoprotein40 | LDL | 370 | |
| Total cholesterol40 | TC | 500 | |
| Triglycerides40 | TG | 354 | |
| Hemoglobin A1C41 | HBA | 33 | monogenic diabetes |
| Type 2 diabetes42 | T2D | 28 | |
| Age-related macular degeneration43 | AMD | 215 | monogenic AMD |
| Age at menarche44 | MNR | 207 | female reproductive disorders |
| Age at menopause45 | MNP | 316 | |
| Fasting glucose46 | FG | 39 | insulin disorders |
| HOMA-B46 | HMB | 12 | |
| HOMA-IR46 | HMIR | 0 | |
| Micro-albuminuria47 | MA | 2 | microalbumin disorders |
| Fasting insulin46 | FI | 23 | mature-onset diabetes of the young |
| 2 hr glucose48 | 2HG | 2 | |
| Type 1 diabetes49 | T1D | 144 | |
| Alzheimer disease50 | ALZ | 58 | neurologic disease |
| Anxiety disorders (case-control)51 | ANXC | 2 | |
| Anxiety disorders (factor score)51 | ANXF | 3 | |
| Major depressive disorder52 | MDD | 4 | |
| Depressive symptoms53 | DS | 10 | |
| Neuroticism53 | NRT | 82 | |
| Bipolar disorder54 | BIP | 8 | psychiatric disease |
| Schizophrenia55 | SCZ | 479 | |
| Chronic kidney disease56 | CKD | 16 | renal disorders |
| Glomerular filtration rate (creatinine)56 | EGFR | 162 | |
| Urine albumin-to-creatinine ratio47 | UACR | 2 | |
| Resting heart rate57 | RHR | 304 | arrhythmias |
| Age at first birth58 | AFB | 45 | education and development disorders |
| College59 | COL | 12 | |
| Education years60 | EY | 554 | |
| Subjective well-being53 | SWB | 9 | positive mood disorders |
| Body fat percentage61 | BFP | 22 | body mass disorders |
| Body mass index62 | BMI | 231 | |
| Childhood BMI63 | CBMI | 49 | |
| Leptin (adjusted for BMI)64 | LEPB | 5 | |
| Leptin (not adjusted for BMI)64 | LEP | 0 | |
| Waist-to-hip ratio65 | WHR | 74 |
This table lists the phenotypically matched pairs of complex traits (n = 62) and groups of Mendelian disorders (n = 20) examined in our study. More details on these traits, including mean GWAS sample size, number of significant GWAS loci reported from original GWAS publications, and number of significant GWAS SNPs, are included in Table S1. GWAS genes for each complex trait were identified by the mapping approach described in the Material and Methods.