Prevalence of clinical manifestations and serology vs associations with the genetic risk score in the Discovery cohort
| n (%) | GRS, high vs low quartiles | GRS, continuous | |||
| OR (95 % CI)* | P value† | OR (95 % CI)‡ | P value† | ||
| Deceased at follow-up | 99 (10) | 1.79 (0.93 to 3.46) | 8.0×10–2 | 1.30 (1.07 to 1.59) | 9.4×10–3 |
| Male gender | 132 (13) | 1.27 (0.77 to 2.12) | 3.4×10–1 | 1.07 (0.91 to 1.24) | 4.2×10–1 |
| SDI scores29 | 1.47 (1.06 to 2.04) | 2.0×10–2 | 1.13 (1.03 to 1.24) | 1.4×10–2 | |
| SLE criteria, ACR-8230 | |||||
| Malar rash | 565 (56) | 0.88 (0.61 to 1.26) | 5.4×10–1 | 0.94 (0.85 to 1.05) | 2.6×10–1 |
| Discoid rash | 236 (24) | 0.85 (0.56 to 1.30) | 4.7×10–1 | 0.94 (0.83 to 1.07) | 3.4×10–1 |
| Photosensitivity | 680 (68) | 0.75 (0.51 to 1.09) | 1.2×10–1 | 0.88 (0.79 to 0.99) | 2.6×10–2 |
| Oral ulcers | 249 (25) | 1.07 (0.71 to 1.62) | 8.5×10–1 | 1.02 (0.91 to 1.15) | 7.0×10–1 |
| Arthritis | 800 (80) | 0.74 (0.47 to 1.17) | 2.0×10–1 | 0.91 (0.80 to 1.04) | 1.5×10–1 |
| Serositis | 447 (45) | 0.95 (0.66 to 1.36) | 8.2×10–1 | 0.95 (0.86 to 1.06) | 3.6×10–1 |
| Renal disorder | 342 (34) | 2.22 (1.50 to 3.27) | 5.9×10–5 | 1.29 (1.16 to 1.44) | 7.0×10–6 |
| Neurological disorder | 105 (10) | 1.12 (0.77 to 1.62) | 5.6×10–1 | 1.09 (0.92 to 1.29) | 3.3×10–1 |
| Haematological disorder | 616 (62) | 1.04 (0.87 to 1.25) | 6.5×10–1 | 1.05 (0.94 to 1.17) | 3.7×10–1 |
| Immunological disorder | 686 (69) | 2.03 (1.38 to 2.98) | 3.6×10–4 | 1.29 (1.15 to 1.45) | 1.6×10–5 |
| dsDNA antibodies | 477 (62) | 1.83 (1.19 to 2.81) | 6.1×10–3 | 1.31 (1.15 to 1.50) | 4.2×10–5 |
| Sm antibodies | 95 (13) | 1.24 (0.65 to 2.37) | 5.2×10–1 | 1.10 (0.90 to 1.33) | 3.5×10–1 |
| ANA | 970 (98) | 2.29 (0.59 to 8.89) | 2.3×10–1 | 1.37 (0.91 to 2.07) | 1.4×10–1 |
| Renal biopsy data47 | |||||
| WHO Class I-II | 32 (14) | 1.67 (0.61 to 4.60) | 3.2×10–1 | 1.17 (0.86 to 1.59) | 3.3×10–1 |
| WHO Class III-IV | 133 (60) | 2.42 (1.30 to 4.49) | 5.1×10–3 | 1.36 (1.14 to 1.62) | 7.5×10–4 |
| WHO Class V | 31 (14) | 1.88 (0.70 to 5.10) | 2.1×10–1 | 1.10 (0.80 to 1.51) | 5.6×10–1 |
| Other§ | 20 (9) | 0.95 (0.29 to 3.13) | 9.5×10–1 | 1.01 (0.68 to 1.50) | 9.5×10–1 |
| CKD stages48 | 2.16 (1.31 to 3.56) | 2.6×10–3 | 1.26 (1.09 to 1.47) | 2.4×10–3 | |
| ESRD | 24 (2) | 5.58 (1.50 to 20.79) | 1.0×10–2 | 1.65 (1.18 to 2.32) | 3.6×10–3 |
| Antiphospholipid antibodies | |||||
| Any aPL | 257 (38) | 1.84 (1.16 to 2.9) | 9.4×10–3 | 1.15 (1.00 to 1.32) | 4.9×10–2 |
| Triple positive aPLs¶ | 119 (20) | 2.27 (1.02 to 5.09) | 4.6×10–2 | 1.30 (1.02 to 1.66) | 3.2×10–2 |
| LA | 121 (22) | 2.12 (1.16 to 3.89) | 1.5×10–2 | 1.21 (1.02 to 1.45) | 3.3×10–2 |
| aCL-IgG | 181 (27) | 1.89 (1.13 to 3.18) | 1.6×10–2 | 1.14 (0.98 to 1.32) | 9.1×10–2 |
| aCL-IgM | 69 (13) | 1.07 (0.5 to 2.29) | 8.6×10–1 | 1.13 (0.91 to 1.41) | 2.7×10–1 |
| aβ2GP-I-IgG | 118 (18) | 2.29 (1.29 to 4.06) | 4.8×10–3 | 1.32 (1.11 to 1.58) | 2.1×10–3 |
| aβ2GP-I-IgM | 19 (11) | 1.01 (0.98 to 1.05) | 4.9×10–1 | 0.91 (0.61 to 1.35) | 6.3×10–1 |
| Clinical APS | 132 (19) | 1.35 (0.78 to 2.33) | 2.8×10–1 | 1.13 (0.96 to 1.34) | 1.4×10–1 |
Values in bold indicate p<0.05.
*OR for the high compared to the low GRS-quartile.
†Unadjusted.
‡OR for every increase of one point in the GRS (eg, from 6.5 to 7.5).
§Patients with biopsies displaying signs of nephritis but not meeting the criteria for any of the above classes32 were classified as other.
¶Triple positivity for aPLs was defined as having positive tests for aCL (IgG or IgM) and aß2GP-I (IgG or IgM) and LA.
aCL, anticardiolipin; ACR, American College of Rheumatology; aβ2GP-I, anti-β2 Glycoprotein-I;aPL, anti-phospholipid antibody; APS, antiphospholipid syndrome; CKD, chronic kidney disease; ESRD, end-stage renal disease; GRS, genetic risk score; LA, lupus anticoagulant; SDI, SLICC Damage Index; SLE, systemic lupus erythematosus; SLICC, Systemic Lupus Collaborating Clinics.