Table 4.
Significant GWAS findings for non-psychiatric disorders
| Type of disease or trait |
Unique findings with p≤10−8 |
N of disorders or traits |
|---|---|---|
| Autoimmune | 12 | 3 |
| Bone density | 10 | 1 |
| Cancer | 37 | 8 |
| Cardiovascular | 5 | 4 |
| Diabetes - type I | 10 | 1 |
| Diabetes - type II | 10 | 1 |
| Gastrointestinal | 25 | 5 |
| Lipid levels | 13 | 3 |
| Neurological | 9 | 6 |
| Physical traits | 28 | 7 |
| Plasma values | 22 | 10 |
| Other | 19 | 10 |
|
| ||
| Totals | 200 | 59 |
Data are summarized from http://www.genome.gov/GWAstudies/ (November 15, 2008). There is no definitive p-value threshold that predicts true positive GWAS findings. Interpretation rests on consistency of replication and/or meta-analysis of cumulative data. A p-value threshold of 5 × 10−8 has been used throughout this review, based on three estimates that assumed that all common SNPs have been tested (42-44), but other thresholds can be defended. Other approaches include False Discovery Rate (45) or Bayes’ Factor (41, 46) criteria.
Shown for each category is the number of distinct findings (defined here as one or more SNPs in a single chromosomal band, for a specific disease or trait) with p ≤ 5 × 10−8, counting only once those findings reported more than once. Of the 200 findings, 95 had p < 10−12, and 58 had p < 10−15. Some SNPs or regions have produced findings for different disorders or traits (see text). In many cases, there are additional studies or meta-analyses (not included in this tabulation of GWAS reports) that contain additional findings or updated significance levels.
“Physical traits” includes non-disease traits such as hair and eye color and height. “Plasma values” includes studies of potentially disease-related values (other than lipids) such as C-reactive protein, glucose and IgE. “Other” includes studies related to eye, skin or pulmonary diseases, obesity-related traits, aging, and other traits.