| Chr | Position bp | dbSNP ID | Gene | Screening panel A | Validation panel B | |||||||||||
| A1 | AF Co | SA | AF Co | SA | Acute | Chronic | ||||||||||
| AF | p-value | OR (95% CI) | AF val | p-value | OR (95% CI) | AF | p-value | AF | p-value | |||||||
| 12 | 56 401 538 | rs1050045 | OS9, 3′UTR | C | 0.40 | 0.48 | 1.62×10−5 | 1.35 (1.18–1.55) | 0.42 | 0.46 | 7.38×10−5 | 1.20 (1.10–1.31) | 0.48 | 9.36×10−5# | 0.45 | 7.80×10−3 |
| 9 | 17 696 884 | rs16935914 | SH3GL2, i | G | 0.05 | 0.08 | 5.89×10−4 | 1.59 (1.22–2.07) | 0.07 | 0.09 | 6.05×10−4 | 1.34 (1.13–1.58) | 0.08 | ns | 0.09 | 8.03×10−4 |
| 3 | 69 788 306 | rs6549245 | MITF, us | C | 0.37 | 0.31 | 1.78×10−4 | 0.76 (0.66–0.88) | 0.36 | 0.33 | 1.44×10−3 | 0.86 (0.78–0.94) | 0.34 | ns | 0.32 | 1.89×10−3 |
| 8 | 96 169 351 | rs6471513 | AX747981, us | C | 0.49 | 0.43 | 3.08×10−4 | 0.78 (0.68–0.89) | 0.49 | 0.46 | 1.63×10−3 | 0.87 (0.79–0.95) | 0.43 | 9.92×10−4 | 0.46 | 2.32×10−2 |
| 2 | 113 633 383 | rs12475781 | PSD4, us | G | 0.38 | 0.32 | 5.60×10−4 | 0.78 (0.67–0.90) | 0.37 | 0.34 | 2.06×10−3 | 0.86 (0.79–0.95) | 0.34 | ns | 0.34 | 3.52×10−2 |
| 5 | 55 707 498 | rs7736704 | ANKDR55, us | C | 0.26 | 0.32 | 4.36×10−5 | 1.37 (1.18–1.59) | 0.27 | 0.30 | 4.59×10−3 | 1.15 (1.04–1.27) | 0.29 | ns | 0.30 | 2.26×10−2 |
| 18 | 17 050 176 | rs9962826 | ROCK1, us | G | 0.01 | 0.04 | 2.40×10−5 | 2.54 (1.62–3.97) | 0.02 | 0.03 | 4.63×10−3 | 1.50 (1.13–1.99) | 0.03 | 2.61×10−2 | 0.03 | 2.27×10−2 |
| 2 | 203 264 771 | rs6748088 | FAM117B, i | C | 0.30 | 0.36 | 5.92×10−4 | 1.29 (1.11–1.48) | 0.32 | 0.35 | 7.58×10−3 | 1.14 (1.03–1.25) | 0.33 | ns | 0.36 | 1.93×10−3 |
| 14 | 58 969 773 | rs2774052 | GPR135, i | T | 0.41 | 0.47 | 3.34×10−4 | 1.28 (1.12–1.47) | 0.43 | 0.45 | 8.01×10−3 | 1.13 (1.03–1.23) | 0.45 | ns | 0.46 | 1.32×10−2 |
| 4 | 86 409 257 | rs11735414 | ARHGAP24, us | G | 0.18 | 0.23 | 4.45×10−4 | 1.35 (1.14–1.59) | 0.19 | 0.21 | 8.38×10−3 | 1.16 (1.04–1.29) | 0.20 | ns | 0.21 | 2.08×10−2 |
| 7 | 28 504 694 | rs217498 | CREB5, i | C | 0.32 | 0.38 | 4.21×10−4 | 1.29 (1.12–1.49) | 0.33 | 0.36 | 8.42×10−3 | 1.13 (1.03–1.24) | 0.37 | 7.66×10−3 | 0.35 | ns |
| 11 | 105 832 978 | rs12798744 | GUCY1A2, ds | A | 0.30 | 0.36 | 3.34×10−4 | 1.30 (1.13–1.50) | 0.30 | 0.33 | 1.03×10−2 | 1.13 (1.03–1.25) | 0.33 | ns | 0.34 | 1.41×10−2 |
| 2 | 45 348 647 | rs17033293 | UNQ6957, us | C | 0.14 | 0.09 | 9.12×10−5 | 0.64 (0.52–0.80) | 0.12 | 0.10 | 1.10×10−2 | 0.83 (0.72–0.96) | 0.11 | ns | 0.10 | 1.74×10−2 |
| 14 | 64 352 830 | rs2285003 | SPTB, i | C | 0.07 | 0.11 | 3.39×10−5 | 1.65 (1.30–2.09) | 0.08 | 0.09 | 1.35×10−2 | 1.22 (1.04–1.42) | 0.10 | 7.62×10−3 | 0.09 | ns |
| 18 | 54 697 058 | rs17694691 | ZNF532, i | C | 0.27 | 0.34 | 3.01×10−5 | 1.36 (1.18–1.58) | 0.28 | 0.30 | 2.84×10−2 | 1.11 (1.01–1.23) | 0.30 | ns | 0.30 | ns |
| 16 | 50 359 507 | rs10163352 | Intergenic | G | 0.34 | 0.28 | 5.87×10−4 | 0.77 (0.67–0.89) | 0.32 | 0.30 | 2.97×10−2 | 0.90 (0.82–0.99) | 0.29 | ns | 0.30 | ns |
| 2 | 217 520 622 | rs1921998 | TNP1, us | C | 0.47 | 0.41 | 6.06×10−4 | 0.79 (0.69–0.90) | 0.46 | 0.43 | 3.63×10−2 | 0.91 (0.83–0.99) | 0.45 | ns | 0.43 | 4.20×10−2 |
| 12 | 99 167 581 | rs3887427 | DEPDC4, i | T | 0.06 | 0.09 | 3.93×10−5 | 1.70 (1.32–2.20) | 0.07 | 0.08 | 3.69×10−2 | 1.19 (1.01–1.40) | 0.08 | ns | 0.08 | ns |
| 9 | 119 649 893 | rs995988 | TLR4, ds | C | 0.49 | 0.42 | 1.04×10−4 | 0.76 (0.67–0.88) | 0.49 | 0.46 | 3.75×10−2 | 0.91 (0.83–0.99) | 0.45 | 1.57×10−2 | 0.48 | ns |
| 11 | 55 537 527 | rs1552151 | OR5F1, us | T | 0.14 | 0.10 | 2.41×10−4 | 0.67 (0.54–0.83) | 0.14 | 0.12 | 4.52×10−2 | 0.87 (0.77–1.00) | 0.12 | ns | 0.12 | 2.53×10−2 |
| 11 | 50 052 671 | rs2201637 | OR4C12, us | T | 0.13 | 0.09 | 1.73×10−4 | 0.65 (0.52–0.82) | 0.12 | 0.11 | 4.58×10−2 | 0.87 (0.76–1.00) | 0.12 | ns | 0.10 | 7.30×10−3 |
99 SNPs were tested for association with sarcoidosis (SA) and the acute and chronic subphenotypes in validation panel B. Data are shown for the 21 SNPs that were nominally significant in this analysis (p<0.05), ranked by their p-value. p-values are obtained from an allele-based Chi-squared test with one degree of freedom. Significant p-values after Bonferroni correction for multiple testing are highlighted in bold (p<0.05). Nucleotide positions refer to NCBI build 36. Chr: chromosome; A1: rare allele in controls; AF Co: allele frequencies in controls; SA: sarcoidosis patients; AF: allele frequencies; AF val: allele frequency in the ralidation pnnel; OR (95% CI): allelic odds ratios and 95% confidence intervals for allele A1; chronic/acute: patients with the respective subphenotype; us/ds/i: location of SNP upstream, downstream or intronic of gene locus, respectively; ns: not significant. # denotes the p-value of the lead SNP rs1050045 with the corresponding OR (95 % CI)=1.30 (1.14–1.49).