Table 2.
Associated genes in gene-based analysis (hypergeometric distribution and SKAT-O methods) 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 | Region | P HGD | P SKAT-O | Gene | Associated trait | |
|---|---|---|---|---|---|---|
| PERSISTENT VS. RESOLVED | ||||||
| 1 | 109252166–109273493 | 1p13.3 | 0.012466754 | 0.021725009 | CELSR2 | Persistent |
| 1 | 12716215–12725527 | 1p36.21 | 0.04489705 | AADACL3 | Resolved | |
| 1 | 12755700–12760937 | 1p36.21 | 0.00429823 | C1orf158 | Resolved | |
| 1 | 156267524–156267524 | 1q22 | 0.026944274 | 0.021343706 | SMG5 | Resolved |
| 1 | 23519074–23521037 | 1p36.12 | 0.012466754 | 0.024629574 | E2F2 | Resolved |
| 2 | 178532055–178781235 | 2q31.2 | 0.028053232 | TTN | Resolved | |
| 2 | 32947681–33342904 | 2p22.3 | 0.02694427 | LTBP1 | Resolved | |
| 2 | 33524504–33527173 | 2p22.3 | 0.02694427 | 0.03932876 | RASGRP3 | Persistent |
| 8 | 144467535–144469561 | 8q24.3 | 0.026944274 | 0.039865155 | KIFC2 | Resolved |
| 9 | 128990198–129005527 | 9q34.11 | 0.026944274 | 0.039865155 | NUP188 | Persistent |
| 11 | 20160309–20160309 | 11p15.1 | 0.040988976 | DBX1 | Persistent | |
| 12 | 52692557–52692557 | 12q13.13 | 0.040988976 | KRT77 | Persistent | |
| 19 | 17102004–17212090 | 19p13.11 | 0.031601364 | 0.034412198 | MYO9B | Persistent |
| 19 | 42079904–42080806 | 19q13.2 | 0.026944274 | 0.039865155 | ZNF574 | Persistent |
| 19 | 54361091–54361091 | 19q13.42 | 0.04825453 | LAIR1 | Resolved | |
| 19 | 54664811–54664811 | 19q13.42 | 0.01644974 | LILRB4 | Resolved | |
| 19 | 54818479–54819917 | 19q13.42 | 0.04676604 | KIR3DL1, KIR3DS1 | Persistent | |
| 22 | 27798761–27800302 | 22q12.1 | 0.012466754 | 0.0183 | MN1 | Persistent |
| 22 | 32491131–32498513 | 22q12.3 | 0.026944274 | FBXO7 | Persistent | |
| HLA+ | ||||||
| 1 | 12716215–12725527 | 1p36.21 | 0.01770751 | AADACL3 | Resolved | |
| 1 | 12755700–12760937 | 1p36.21 | 0.00879604 | C1orf158 | Resolved | |
| 1 | 156267524–156267524 | 1q22 | 0.022727273 | SMG5 | Resolved | |
| 3 | 12004712–12004864 | 3p25.2 | 0.04290113 | SYN2 | Resolved | |
| 11 | 5986042–5986042 | 11p15.4 | 0.037517877 | OR52L1 | Resolved | |
| 17 | 37624364–37628587 | 17q12 | 0.04290113 | DDX52 | Persistent | |
| 19 | 44477645–44497294 | 19q13.31 | 0.022727273 | ZNF180 | Resolved | |
| 19 | 54664811–54664811 | 19q13.42 | 0.02185508 | LILRB4 | Resolved | |
| 19 | 54818479–54819917 | 19q13.42 | 0.04290113 | KIR3DL1, KIR3DS1 | Persistent | |
| HLA– | ||||||
| 2 | 178532055–178781235 | 2q31.2 | 0.020455901 | TTN | Resolved | |
| 8 | 10609233–10623110 | 8p23.1 | 0.022727273 | 0.03576884 | RP1L1 | Resolved |
| 8 | 144379425–144392522 | 8q24.3 | 0.043841642 | ADCK5 | Resolved | |
| 19 | 17102004–17212090 | 19p13.11 | 0.022727273 | 0.03576884 | MYO9B | Persistent |
| 22 | 22514169–22515418 | 22q11.22 | 0.047171298 | ZNF280A | Persistent | |
Bolded are the chromosomal locations were multiple genes are 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.
HGD, hypergeometric distribution method.
P values are uncorrected, none of th values remained significant after correcting for multiple tests.