Table 4.
Markers with strongest association between sarcoidosis chest radiographic phenotypes and genetic ancestry based on a genome-wide ADMIXMAP analysis of unrelated sarcoidosis cases
| All Cases (n=1026) |
Radiographically Resolved Disease (n=295 ) |
Radiographically Persistent Disease (n=525 ) |
Scadding Stage IV Disease (n=186 ) |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GENOMIC POSITION |
Marker | aRR | 95%CI | P value | aRR | 95%CI | P value | aRR | 95%CI | P value | aRR | 95%CI | P value |
| 2p13.3-2q12.1 | rs1320149 | 0.71 | 0.54-0.92 | 0.011 | 0.97 | 0.59-1.60 | 0.91 | 0.67 | 0.47-0.97 | 0.036 | 0.29 | 0.15-0.55 | 0.0001 |
| 2q35-2q36.3 | rs4674659 | 0.69 | 0.55-0.91 | 0.008 | 0.76 | 0.46-1.25 | 0.272 | 0.62 | 0.42-0.90 | 0.013 | 0.66 | 0.35-1.24 | 0.195 |
| 2p24.3-2p16.1 | rs1316521 | 0.77 | 0.56-1.06 | 0.110 | 0.67 | 0.39-1.17 | 0.161 | 0.67 | 0.44-1.03 | 0.070 | 0.33 | 0.17-0.68 | 0.003 |
| 4q21.21-4q24 | rs10003577 | 1.27 | 0.98-1.66 | 0.075 | 1.43 | 0.88-2.33 | 0.153 | 1.70 | 1.17-2.46 | 0.005 | 1.40 | 0.75-2.59 | 0.291 |
| 4q31.21-4q34.1 | rs1530044 | 1.53 | 1.14-2.05 | 0.005 | 1.52 | 0.9-2.58 | 0.117 | 1.45 | 0.97-2.17 | 0.068 | 1.66 | 0.87-3.17 | 0.128 |
| 5p13.3-5p13.2 | rs40030 | 1.41 | 1.09-1.83 | 0.008 | 1.97 | 1.24-3.15 | 0.004 | 1.37 | 0.96-1.94 | 0.082 | 2.25 | 1.25-4.05 | 0.007 |
| 5q23.1-5q31.2 | rs30533 | 0.67 | 0.51-0.89 | 0.005 | 0.79 | 0.48-1.29 | 0.348 | 0.71 | 0.48-1.04 | 0.079 | 0.47 | 0.25-0.89 | 0.021 |
| 6p24.3-6p12.1 | rs11966463 | 1.90 | 1.36-2.64 | 0.0002 | 2.04 | 1.15-3.67 | 0.006 | 1.61 | 1.04-2.49 | 0.006 | 1.13 | 0.55-2.31 | 0.740 |
| 6q23.3-6q25.2 | rs276497 | 0.67 | 0.52-0.87 | 0.003 | 0.59 | 0.36-0.96 | 0.034 | 0.63 | 0.44-0.91 | 0.013 | 0.38 | 0.21-0.70 | 0.002 |
| 8p21.3-8p11.21 | rs1462906 | 0.65 | 0.5-0.85 | 0.002 | 0.92 | 0.56-1.5 | 0.723 | 0.68 | 0.47-0.98 | 0.037 | 0.79 | 0.43-1.46 | 0.446 |
| 10p12.2-10q11.23 | rs7919137 | 0.82 | 0.64-1.07 | 0.349 | 0.91 | 0.56-1.48 | 0.708 | 0.62 | 0.43-0.9 | 0.037 | 0.27 | 0.15-0.49 | 2×10−5 |
| 16q22.1-16q23.2 | rs12444204 | 0.78 | 0.58-1.04 | 0.094 | 1.21 | 0.72-2.04 | 0.471 | 0.73 | 0.49-1.09 | 0.121 | 0.32 | 0.16-0.63 | 0.001 |
| 17p13.3-17p13.1 | rs8070464 | 1.68 | 1.29-2.25 | 0.0005 | 1.66 | 0.97-2.82 | 0.062 | 1.68 | 1.12-2.51 | 0.011 | 2.60 | 1.36-4.97 | 0.004 |
| 18p11.32-18p11.31 | rs568273 | 1.34 | 0.95-1.89 | 0.097 | 0.74 | 0.39-1.41 | 0.362 | 1.86 | 1.19-2.91 | 0.007 | 0.91 | 0.43-1.92 | 0.802 |
| 18q23 | rs4798954 | 0.82 | 0.57-1.17 | 0.279 | 0.61 | 0.33-1.13 | 0.115 | 0.49 | 0.3-0.81 | 0.005 | 0.81 | 0.37-1.79 | 0.599 |
| 19p12-19q13.41 | rs2974190 | 1.45 | 1.1-1.91 | 0.009 | 1.81 | 1.08-3.04 | 0.025 | 1.82 | 1.25-2.65 | 0.002 | 1.49 | 0.8-2.77 | 0.201 |
*
Note: Regions selected where either significant in all cases or a phenotype-stratified subset based on criteria outlined in the table 2 footnote
(aRR = ancestry risk ratio estimated from the affected-only anlaysis)