Table 1. Overview of Sample Characteristics.
| Cohort | Tissue | Status | Sex, No. (%) | Age, Mean (SD), y | Methylationa | Genotypea | Imaginga | |
|---|---|---|---|---|---|---|---|---|
| Male | Female | |||||||
| Discovery methylation | Whole-blood | Control | 142 (6.4) | 180 (8.1) | 37.7 (15.2) | 322 | ||
| Case | 254 (11.4) | 99 (4.4) | 43.7 (14.7) | 353 | ||||
| Validation methylation | Control | 319 (14.3) | 114 (5.1) | 45.0 (12.1) | 433 | |||
| Case | 283 (12.7) | 131 (5.9) | 46.6 (13.6) | 414 | ||||
| Validation methylation/MRI | Control | 168 (7.5) | 163 (7.3) | 27.8 (10.2) | 331 | |||
| SubCtl | 126 (5.7) | 115 (5.2) | 28 (10.7) | 241 | 241 | 241 | ||
| Case | 28 (1.3) | 8 (0.4) | 33.8 (10.4) | 36 | ||||
| Specificity methylation | AUT | 18 (0.8) | 9 (0.4) | 33.8 (9.6) | 27 | |||
| BP | 16 (0.7) | 23 (1.0) | 36.4 (10.5) | 39 | ||||
| MDD | 11 (0.5) | 24 (1.1) | 37.2 (12.2) | 35 | ||||
| Relatives methylation | relSCZ | 8 (0.4) | 19 (0.9) | 37.2 (14.4) | 27 | |||
| relAUT | 8 (0.4) | 9 (10.4) | 44.9 (9.1) | 17 | ||||
| relBP | 8 (0.4) | 7 (0.3) | 36.9 (12.3) | 15 | ||||
| relMDD | 11 (0.5) | 18 (0.8) | 30.3 (10.4) | 29 | ||||
| Validation MRI | Control | 66 3.0%) | 86 (3.9) | 26.9 (8.8) | 152 | 152 | 152 | |
| Validation post mortem | Brain | Control | 90 (36.9) | 46 (18.9) | 46.5 (16.1) | 136 | ||
| Case | 59 (24.2) | 49 (20.1) | 52.7 (14.5) | 108 | ||||
| GWAS MGS | Whole-blood | Control | 1301 (25.9) | 1417 (28.3) | 50.6 (16.4) | 2718 | ||
| Case | 1606 (32.0) | 690 (13.8) | 43.4 (11.7)b | 2296 | ||||
Abbreviations: AUT, autism; BP, bipolar disorder; GWAS, genome-wide association study; MDD, major depressive disorder; MGS, molecular genetics of schizophrenia; MRI, magnetic resonance imaging; relAUT, first-degree relatives of patients with autism; relBP, first-degree relatives of patients with bipolar disorder; relMDD, first-degree relatives of patients with major depressive disorder; relSCZ, first-degree relatives of patients with schizophrenia; SubCtl, subset of healthy controls.
The rightmost 3 columns indicate the sample numbers for which the respective data were available (methylation: DNA methylation; genotypes: whole-genome genetic association data; imaging: functional MRI data [validation methylation/MRI: n-back task; validation MRI: Sternberg task]; case: patients with schizophrenia; subset of healthy controls; autism; bipolar disorder; major depressive disorder; first-degree relatives of patients with schizophrenia; first-degree relatives of patients with autism; first-degree relatives of patients with bipolar disorder; and first-degree relatives of patients with major depressive disorder).
Forty participants with missing age information.