Table 1– Results for single nucleotide polymorphisms (SNPs) with nominally significant p-values in the validation panel
ChrPosition bpdbSNP IDGeneScreening panel AValidation panel B
A1AF CoSAAF CoSAAcuteChronic
AFp-valueOR (95% CI)AF valp-valueOR (95% CI)AFp-valueAFp-value
1256 401 538rs1050045OS9, 3′UTRC0.400.481.62×10−51.35 (1.18–1.55)0.420.467.38×10−51.20 (1.10–1.31)0.489.36×10−5#0.457.80×10−3
917 696 884rs16935914SH3GL2, iG0.050.085.89×10−41.59 (1.22–2.07)0.070.096.05×10−41.34 (1.13–1.58)0.08ns0.098.03×10−4
369 788 306rs6549245MITF, usC0.370.311.78×10−40.76 (0.66–0.88)0.360.331.44×10−30.86 (0.78–0.94)0.34ns0.321.89×10−3
896 169 351rs6471513AX747981, usC0.490.433.08×10−40.78 (0.68–0.89)0.490.461.63×10−30.87 (0.79–0.95)0.439.92×10−40.462.32×10−2
2113 633 383rs12475781PSD4, usG0.380.325.60×10−40.78 (0.67–0.90)0.370.342.06×10−30.86 (0.79–0.95)0.34ns0.343.52×10−2
555 707 498rs7736704ANKDR55, usC0.260.324.36×10−51.37 (1.18–1.59)0.270.304.59×10−31.15 (1.04–1.27)0.29ns0.302.26×10−2
1817 050 176rs9962826ROCK1, usG0.010.042.40×10−52.54 (1.62–3.97)0.020.034.63×10−31.50 (1.13–1.99)0.032.61×10−20.032.27×10−2
2203 264 771rs6748088FAM117B, iC0.300.365.92×10−41.29 (1.11–1.48)0.320.357.58×10−31.14 (1.03–1.25)0.33ns0.361.93×10−3
1458 969 773rs2774052GPR135, iT0.410.473.34×10−41.28 (1.12–1.47)0.430.458.01×10−31.13 (1.03–1.23)0.45ns0.461.32×10−2
486 409 257rs11735414ARHGAP24, usG0.180.234.45×10−41.35 (1.14–1.59)0.190.218.38×10−31.16 (1.04–1.29)0.20ns0.212.08×10−2
728 504 694rs217498CREB5, iC0.320.384.21×10−41.29 (1.12–1.49)0.330.368.42×10−31.13 (1.03–1.24)0.377.66×10−30.35ns
11105 832 978rs12798744GUCY1A2, dsA0.300.363.34×10−41.30 (1.13–1.50)0.300.331.03×10−21.13 (1.03–1.25)0.33ns0.341.41×10−2
245 348 647rs17033293UNQ6957, usC0.140.099.12×10−50.64 (0.52–0.80)0.120.101.10×10−20.83 (0.72–0.96)0.11ns0.101.74×10−2
1464 352 830rs2285003SPTB, iC0.070.113.39×10−51.65 (1.30–2.09)0.080.091.35×10−21.22 (1.04–1.42)0.107.62×10−30.09ns
1854 697 058rs17694691ZNF532, iC0.270.343.01×10−51.36 (1.18–1.58)0.280.302.84×10−21.11 (1.01–1.23)0.30ns0.30ns
1650 359 507rs10163352IntergenicG0.340.285.87×10−40.77 (0.67–0.89)0.320.302.97×10−20.90 (0.82–0.99)0.29ns0.30ns
2217 520 622rs1921998TNP1, usC0.470.416.06×10−40.79 (0.69–0.90)0.460.433.63×10−20.91 (0.83–0.99)0.45ns0.434.20×10−2
1299 167 581rs3887427DEPDC4, iT0.060.093.93×10−51.70 (1.32–2.20)0.070.083.69×10−21.19 (1.01–1.40)0.08ns0.08ns
9119 649 893rs995988TLR4, dsC0.490.421.04×10−40.76 (0.67–0.88)0.490.463.75×10−20.91 (0.83–0.99)0.451.57×10−20.48ns
1155 537 527rs1552151OR5F1, usT0.140.102.41×10−40.67 (0.54–0.83)0.140.124.52×10−20.87 (0.77–1.00)0.12ns0.122.53×10−2
1150 052 671rs2201637OR4C12, usT0.130.091.73×10−40.65 (0.52–0.82)0.120.114.58×10−20.87 (0.76–1.00)0.12ns0.107.30×10−3
  • 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).