Table 1.
Main epidemiological and clinical features of the discovery and validation patient cohorts
| Clinical and epidemiological variablesa | Discovery cohort | Validation cohort | P |
|---|---|---|---|
| Genetic background | CEU | CEU | - |
| Number of individuals (N) | 482 | 425 | - |
| Gender (% females) | 443 (91.91%) | 398 (93.65%) | 0.37 |
| Average age at onset (m ± SD) | 33.50 ± 14.09 | 32.39 ± 13.32 | 0.22 |
| Malar rash (N +/N -) | 185/174 | 183/175 | 1.00 |
| Discoid rash (N +/N -) | 46/313 | 49/309 | 0.74 |
| Photosensitivity (N +/N -) | 191/168 | 173/185 | 0.20 |
| Oral ulcers (N +/N -) | 153/206 | 172/186 | 0.15 |
| Arthritis (N +/N -) | 275/84 | 267/91 | 0.54 |
| Serositis (N +/N -) | 110/249 | 122/236 | 0.34 |
| Renal disorder (N +/N -) | 120/239 | 108/250 | 0.38 |
| Neurologic disorder (N +/N -) | 25/334 | 35/293 | 0.10 |
| Hematologic disorder (N +/N -) | 341/18 | 337/21 | 0.63 |
| Immunologic disorder (N +/N -) | 289/70 | 292/66 | 0.77 |
| Antinuclear antibodies (N +/N -) | 346/13 | 347/11 | 0.84 |
Abbreviations: CEU Caucasian European, M mean, N sample size, N + sample size of positive individuals for the clinical variable, N - sample size of negative individuals for the clinical variable, P P value, SD standard deviation
aNumber of individuals shown in the table represents the total number of patients that were initially recruited for the present study. Conversely, the sample size of positive/negative individuals for the indicated clinical phenotype represents the final number of SLE patients having data on both genotype and phenotype available for association analysis