Table 1.
Associated variations in single-variant analysis in different Finnish sarcoidosis subgroups based on disease prognosis (persistent, resolved) and HLA markers (HLA+ = HLA–DRB1*03:01 and/or HLA-DRB1*04:01-DPB1*04:01; HLA– = without either of the markers).
| Chromosome | Position | Chromosomal location | MAF Persistent | MAF Resolved | MAF gnomAD Finnish | SNP | AA Change | Predicted Function | P | rsID | Gene |
|---|---|---|---|---|---|---|---|---|---|---|---|
| PERSISTENT VS. RESOLVED | |||||||||||
| 1 | 12719616 | 1p36.21 | 0.125 | 0.375 | 0.2196 | C/T | Ser47Pro | B/T | 0.000915 | rs3010877 | AADACL3 |
| 1 | 12725527 | 1p36.21 | 0.181 | 0.389 | 0.3072 | T/G | Cys125Phe | P/T | 0.016591 | rs7513079 | AADACL3 |
| 1 | 12760937 | 1p36.21 | 0.139 | 0.361 | 0.2346 | C/T | Phe153Leu | B/T | 0.00833 | rs1132185 | C1orf158 |
| 1 | 156267524 | 1q22 | 0.000 | 0.069 | 0.01 | T/C | Ile355Val | B/T | 0.0269443 | rs145100575 | SMG5 |
| 19 | 54664811 | 19q13.42 | 0.208 | 0.375 | 0.3021 | G/A | Asp223Gly | B/D | 0.01645 | rs731170 | LILRB4 |
| 19 | 54818581 | 19q13.42 | 0.264 | 0.153 | 0 | G/A | Met113Val | B/D | 0.046766 | rs643861 | KIR3DL1, KIR3DS1 |
| 20 | 35434589 | 20q11.22 | 0.444 | 0.347 | 0.3917 | C/A | Glu144Ala | B/D | 0.0397467 | rs224331 | GDF5 |
| HLA+ | |||||||||||
| 1 | 12719616 | 1p36.21 | 0.083 | 0.361 | 0.2196 | C/T | Ser47Pro | B/T | 0.001023 | rs3010877 | AADACL3 |
| 1 | 12725527 | 1p36.21 | 0.111 | 0.333 | 0.3072 | T/G | Cys125Phe | P/T | 0.008796 | rs7513079 | AADACL3 |
| 1 | 12760937 | 1p36.21 | 0.111 | 0.306 | 0.2346 | C/T | Phe153Leu | B/T | 0.020456 | rs1132185 | C1orf158 |
| 1 | 156267524 | 1q22 | 0.000 | 0.139 | 0.01 | T/C | Ile355Val | B/T | 0.0227273 | rs145100575 | SMG5 |
| 11 | 5986042 | 11p15.4 | 0.083 | 0.250 | 0.1899 | G/A | Trp297Arg | B/D | 0.0375179 | rs4237768 | OR52L1 |
| 17 | 37624364 | 17q12 | 0.278 | 0.111 | 0.2469 | C/T | Met403Val | B/T | 0.0429011 | rs7216445 | DDX52 |
| 19 | 44477666 | 19q13.31 | 0.333 | 0.472 | 0.4727 | G/C | Cys272Ser | B/T | 0.0438416 | rs1897820 | ZNF180 |
| 19 | 44497294 | 19q13.31 | 0.361 | 0.500 | 0.4932 | A/G | Ala41Val | B/T | 0.0227273 | rs2571108 | ZNF180 |
| 19 | 54664811 | 19q13.42 | 0.139 | 0.333 | 0.3021 | G/A | Met113Val | B/D | 0.021855 | rs731170 | LILRB4 |
| 19 | 54818581 | 19q13.42 | 0.278 | 0.111 | 0 | G/A | Glu144Ala | B/D | 0.042901 | rs643861 | KIR3DL1, KIR3DS1 |
| HLA– | |||||||||||
| 8 | 144379425 | 8q24.3 | 0.333 | 0.472 | 0.4882 | C/A | Arg17Ser | B/T | 0.0438416 | rs6599528 | ADCK5 |
| 22 | 22514169 | 22q11.22 | 0.333 | 0.167 | 0.2745 | T/G | Arg488Ser | B/D | 0.0471713 | rs361666 | ZNF280A |
| 22 | 22514173 | 22q11.22 | 0.333 | 0.167 | 0.2745 | C/G | Phe486Leu | B/T | 0.0471713 | rs361762 | ZNF280A |
| 22 | 22514885 | 22q11.22 | 0.333 | 0.167 | 0.2745 | G/C | Gly249Ala | B/T | 0.0471713 | rs362124 | ZNF280A |
| 22 | 22514894 | 22q11.22 | 0.333 | 0.167 | 0.2745 | C/T | Asn246Ser | B/T | 0.0471713 | rs362132 | ZNF280A |
| 22 | 22515221 | 22q11.22 | 0.333 | 0.167 | 0.275 | G/T | Tyr137Ser | B/T | 0.0471713 | rs361580 | ZNF280A |
| 22 | 22515224 | 22q11.22 | 0.333 | 0.167 | 0.2753 | C/T | Asn136Ser | B/T | 0.0471713 | rs362011 | ZNF280A |
| 22 | 22515418 | 22q11.22 | 0.333 | 0.167 | 0.2742 | A/C | Lys71Asn | B/T | 0.0471713 | rs361959 | ZNF280A |
Bolded are the chromosomal locations were muliple variants were associated.
Resolved patients, n = 36; persitent patients, n = 36; HLA+ resolved, n = 18; HLA+ persistent, n = 18; HLA− resolved, n = 18, HLA− persistent, n = 18.
Predicted function according to PolyPhen and Sift, respectively: B, benign; P, probably damaging; T, tolerated; D, deleterious. MAF, minor allele frequency; gnomAD, The Genome Aggregation Database; AA, amino acid. P values are uncorrected, none of the values remained significant after correcting for multiple tests.