Table 2:
Clinical diagnoses associated with a weighted genetic risk score for systemic lupus erythematosus
| BioVU | eMERGE | |||||||
|---|---|---|---|---|---|---|---|---|
| Clinical diagnoses | # Cases |
# Controls |
OR (95%CI) | FDR (q) | # Cases |
# Controls |
OR (95%CI) | FDR (q) |
| Lupus (localized and systemic) | 867 | 47037 | 1.73 [1.62, 1.85] | 6.64E-55 | 418 | 18304 | 1.82 [1.66, 2.00] | 6.62E-35 |
| Systemic lupus erythematosus | 880 | 47037 | 1.71 [1.60, 1.82] | 2.26E-53 | 393 | 18305 | 1.86 [1.69, 2.04] | 6.62E-35 |
| Diffuse diseases of connective tissue | 1034 | 47690 | 1.58 [1.48, 1.68] | 1.55E-44 | 797 | 17923 | 1.28 [1.19, 1.37] | 1.07E-10 |
| Erythematous conditions | 1916 | 48513 | 1.28 [1.22, 1.34] | 1.72E-22 | 3029 | 18445 | 1.08 [1.04, 1.13] | 1.55E-04 |
| Sicca syndrome | 388 | 47650 | 1.60 [1.45, 1.77] | 6.63E-18 | 318 | 17740 | 1.29 [1.16, 1.44] | 2.29E-05 |
| Cutaneous lupus erythematosus | 161 | 47160 | 1.79 [1.54, 2.08] | 1.31E-11 | 120 | 18302 | 2.02 [1.71, 2.40] | 5.12E-15 |
| Rheumatoid arthritis (RA) | 1623 | 48410 | 1.21 [1.15, 1.27] | 5.07E-11 | 1262 | 21595 | 1.20 [1.13, 1.26] | 4.73E-09 |
| Chronic hepatitis | 285 | 46822 | 1.53 [1.37, 1.72] | 5.41E-11 | 140 | 18968 | 1.11 [0.94, 1.31] | 0.251 |
| RA and other inflammatory polyarthropathies | 2024 | 48385 | 1.19 [1.13, 1.24] | 5.84E-11 | 1531 | 21594 | 1.18 [1.12, 1.25] | 1.33 E-09 |
| Systemic sclerosis | 269 | 47798 | 1.51 [1.34, 1.70] | 1.81E-09 | 313 | 17908 | 1.35 [1,20, 1.50] | 9.72E-07 |
| Celiac disease | 242 | 37413 | 1.53 [1.35, 1.73] | 3.69E-09 | 179 | 13860 | 1.31 [1.13, 1.51] | 5.29E-04 |
| Hypothyroidism NOS | 7095 | 44977 | 1.09 [1.06, 1.12] | 8.63E-08 | 5489 | 19992 | 1.07 [1.04, 1.10] | 5.73E-05 |
| Hypothyroidism | 6807 | 44975 | 1.09 [1.06, 1.12] | 2.43E-07 | 5229 | 20012 | 1.07 [1.04, 1.10] | 7.40E-05 |
| Nephritis and nephropathy classified elsewhere | 327 | 42085 | 1.39 [1.24, 1.55] | 3.62E-07 | 554 | 18075 | 1.17 [1.07, 1.27] | 6.46E-04 |
| Type 1 diabetes with renal manifestations | 276 | 38522 | 1.41 [1.26, 1.59] | 8.16E-07 | 165 | 17977 | 1.38 [1.19, 1.60] | 7.28E-05 |
| Other immunological findings | 768 | 51528 | 1.22 [1.14, 1.31] | 4.43E-06 | 437 | 26572 | 1.10 [1.01, 1.21] | 0.062 |
| Other specified diffuse diseases of connective tissue | 241 | 47543 | 1.42 [1.25, 1.61] | 6.28E-06 | 72 | 17792 | 1.21 [0.97, 1.53] | 0.131 |
| Unspecified diffuse connective tissue disease | 149 | 46663 | 1.47 [1.25, 1.73] | 1.84E-04 | 267 | 17937 | 1.30 [1.16, 1.47] | 5.59E-05 |
| Primary biliary cirrhosis | 230 | 42393 | 1.34 [1.18, 1.53] | 5.85E-04 | 73 | 20749 | 1.14 [0.90, 1.43] | 0.293 |
| Type 1 diabetes | 1881 | 38647 | 1.11 [1.06, 1.17] | 6.43E-04 | 1156 | 18035 | 1.11 [1.05, 1.18] | 9.55E-04 |
| Nephritis; nephrosis; renal sclerosis | 836 | 42105 | 1.17 [1.09, 1.26] | 6.66E-04 | 1263 | 18185 | 1.13 [1.06, 1.19] | 1.10E-04 |
| Raynaud's syndrome | 438 | 46322 | 1.24 [1.13, 1.36] | 6.72E-04 | 687 | 17499 | 1.17 [1.09, 1.27] | 1.10E-04 |
| Renal failure NOS | 834 | 42085 | 1.17 [1.09, 1.25] | 8.92E-04 | 824 | 18003 | 1.06 [0.99, 1.13] | 0.156 |
| Nephritis & nephropathy without glomerulonephritis | 471 | 42066 | 1.22 [1.12, 1.34] | 9.73E-04 | 851 | 18186 | 1.12 [1.04, 1.20] | 0.003 |
| Chronic lymphocytic thyroiditis | 592 | 44562 | 1.20 [1.10, 1.30] | 9.73E-04 | 437 | 20049 | 1.09 [0.99, 1.29] | 0.128 |
| Skin cancer | 4321 | 46382 | 0.93 [0.90, 0.96] | 9.73E-04 | 4570 | 20651 | 0.98[0.94, 1.01] | 0.188 |
| Type 1 diabetes with ophthalmic manifestations | 240 | 38262 | 1.32 [1.16, 1.50] | 1.18E-03 | 230 | 18024 | 1.34 [1.18, 1.52] | 2.85E-05 |
| Graves' disease | 425 | 44697 | 1.21 [1.10, 1.34] | 4.42E-03 | 293 | 19949 | 1.26 [1.12, 1.41] | 2.02E-04 |
| Thyroiditis | 710 | 44885 | 1.16 [1.08, 1.25] | 5.57E-03 | 483 | 20027 | 1.07 [0.98, 1.18] | 0.160 |
| Melanomas of skin, diagnosed or personal history | 1463 | 46873 | 0.91 [0.86, 0.96] | 0.020 | 783 | 21163 | 1.01 [0.94, 1.09] | 0.790 |
| Vitamin deficiency | 4596 | 41765 | 1.06 [1.02, 1.09] | 0.024 | 3359 | 20746 | 1.02 [1.99, 1.06] | 0.268 |
| Melanomas of skin | 1226 | 47151 | 0.90 [0.85, 0.96] | 0.025 | 666 | 21175 | 1.03 [0.95, 1.11] | 0.469 |
| Other non-epithelial cancer of skin | 3968 | 44957 | 0.94 [0.91, 0.97] | 0.025 | 4428 | 20232 | 0.96 [0.93, 1.00] | 0.064 |
| Anemia in chronic kidney disease | 1136 | 36565 | 1.11 [1.05, 1.18] | 0.025 | 915 | 16227 | 1.07 [1.00, 1.15] | 0.067 |
| Glomerulonephritis | 222 | 41878 | 1.26 [1.10, 1.44] | 0.025 | 510 | 18124 | 1.17 [1.07, 1.28] | 8.03E-04 |
| Osteoarthrosis | 8248 | 41162 | 1.04 [1.02, 1.07] | 0.029 | 11092 | 13738 | 0.99 [0.97, 1.02] | 0.668 |
| Chronic airway obstruction | 4931 | 44980 | 1.05 [1.02,1.09] | 0.034 | 3843 | 17874 | 1.03 [0.99, 1.06] | 0.188 |
| Primary hypercoagulable state | 426 | 43779 | 1.18 [1.07, 1.30] | 0.036 | 466 | 21377 | 1.14 [1.04, 1.25] | 0.010 |
| Diabetic retinopathy | 790 | 51138 | 1.13 [1.05, 1.21] | 0.039 | 913 | 20135 | 1.11 [1.04, 1.18] | 0.006 |
| Type 1 diabetes with neurological manifestations | 475 | 38597 | 1.16 [1.06, 1.28] | 0.044 | 218 | 17911 | 1.13 [0.99, 1.29] | 0.114 |
| Other retinal disorders | 1727 | 51681 | 1.08 [1.03, 1.14] | 0.045 | 3987 | 19275 | 1.04 [1.00, 1.08] | 0.059 |
| Chronic thyroiditis | 411 | 44294 | 1.17 [1.06, 1.30] | 0.050 | 369 | 19996 | 1.08 [0.97, 1.20] | 0.188 |
OR (95%CI): Odds ratio (95% confidence interval); FDR: False discovery rate (significant associations FDR q<0.05)