Gene ontology | Gene symbol | Polymorphism | Association with lung fibrosis in SSc | Pop. (cases/controls n) | Comments/other associations | [Refs] |
MHC | | | | | | |
HLA genes | DRB1 | HLA typing | DR11; DRB1*1104 | UK (202/307); GR (98/130) | | 84, 85 |
| DPB1 | HLA typing | DPB1*1301 | UK (202/307) | | 84 |
TNF | TNF | −237G>A | No | UK W (214/354) | | 88 |
| | −307G>A | No | UK W (214/354) | | 88 |
| | −857C>T | −857T | UK W (214/354) | −857T in LD with DR11 | 88 |
| | −863C>A | No | UK W (214/354) | −863A strongly associates with ACA+ | 88 |
| | −1031T>C | No | UK W (214/354) | −1031C associates with ACA+ | 88 |
Non-MHC | | | | | | |
Chemokine-related genes | IL8 | −353A>T | No | UK W (128/194) | | 34 |
| | +293G>T | No | UK W (128/194) | | 34 |
| | +678T>C | No | UK W (128/194) | | 34 |
| CXCR1 | +2607G>C | No | UK W (128/194) | | 34 |
| CXCR2 | +785C>T | +785C | UK W (128/194) | Also associated with SSc without lung fibrosis | 34 |
| | +1208T>C | +1208T | UK W (128/194) | Also associated with SSc without lung fibrosis | 34 |
| | +1440G>A | No | UK W (128/194) | | 34 |
Cytokine genes | TGFB1 | −509C>T | −509T | JP (87/110) | Weak association | 89 |
| | +869T>C (L10P) | +869C (OR 2.0) | JP (87/110); UK (152/147) | Also associated with SSc without lung fibrosis in UK patients | 89, 90 |
| | +915G>C (R25P) | No | UK (152/147) | | 90 |
ECM | FN1 | HaeIII RFLP | Genotype AB | UK (161/253) | | 91 |
| | MspI RFLP | No | UK (161/253) | Co-carriage of genotypes MspI CD and HaeIII AB showed two-fold increased risk of developing lung fibrosis | 91 |
| | HindIII RFLP | No | UK (161/253) | | 91 |
| | TaqI RFLP | No | UK (161/253) | | 91 |
| SPARC | +998C>G | No | USA W (94/70); AA (33/28); MA (51/45) | | 92 |
| | +1551C>G | No | USA W (94/70); AA (33/28); MA (51/45) | | 92 |
| | +1922T>G | +1922T | USA W (94/70); AA (33/28); MA (51/45) | Weak association | 92 |
| FBN1 | Hap-1– -12 | Hap-5 | JP (106/100) | Hap-5/-6 associated with SSc in JP and Choctaw pops | 93 |