Table 1.
Description of the four data sets and patient demographics. Number of samples from each study utilized in the combined analysis following removal of individuals with non-European genetic ancestry, sex mismatches, and related samples within and between data sets
| Data sets | ||||
|---|---|---|---|---|
| 1 | 2 | 3 | 4 | |
| N | 145 | 161 | 322 | 555 |
| Sex | ||||
| Male | 68 (46.9%) | 105 (65.2%) | 150 (46.6%) | 152 (27.4%) |
| Female | 77 (53.1%) | 56 (34.8%) | 172 (53.4%) | 403 (72.6%) |
| Age (years) | ||||
| ≤ 1 | 0 (0%) | 2 (1.2%) | 1 (0.3%) | 0 (0%) |
| 2–19 | 2 (1.4%) | 35 (21.7%) | 12 (3.7%) | 5 (0.9%) |
| 20–59 | 76 (52.4%) | 81 (50.3%) | 198 (61.5%) | 496 (89.4%) |
| > 59 | 67 (46.2%) | 43 (26.7%) | 111 (34.5%) | 54 (9.7%) |
| Mean (range) | 58.3 (7–85) | 41.4 (1–81) | 50.9 (0–94.3) | 45.5 (18–75) |
| Genotyping | Illumina HumanHap300-Duo v2.0 (GEO: GSE39036) | Illumina Human610-Quad v1.0 (GEO: GSE26105) | Affymetrix GeneChip Human Mapping 500K | HumanHap 650Y |
| Expression microarray | Illumina Human Whole Genome-6 v2.0 (GEO: GSE32504) | Agilent-014850 Whole Human Genome 4x44K (GEO: GSE25935) | Agilent Technologies (Custom ~40K transcripts) (GEO: GSE9588) | Agilent Technologies (Custom ~40K transcripts) (GEO: GSE24293) |