Table 1.
Genetic polymorphisms proposed to be associated with SSc-ILD.
| Association with phenotypes | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Variants | Genes | Population | Discovery | Replication | Replication | Odd ratio | p = value | Anti-SLC70 | SSc | Expression | Ref |
| rs2276109 | MMP12 | Italian | 250/263 | 2.94 (95% CI 1.25–6.95) | p = 0.01 | Yes | ILD | higher level of MMP12 | Manetti et al., 2010 | ||
| CTGF -945GG | CTGF | UK | 200/188 | 300/312 | 3.1 (95% CI, 1.9–5.0) | p < 0.001 | Yes | ILD | higher level of CTGF | Fonseca et al., 2007 | |
| HGF -1652 TT | HGF | Japanese | 159/103 | 155/0 | 8.1 (95% CI 2.5–26.0) | p = 0.0004 | NA | ESLD | lower level of HGF | Hoshino et al., 2011 | |
| rs1059702 | IRAK1 | EU | 849/625 | 495/509 | 466/1083 | 2.09 (95% CI 1.35–3.24) | p = 0.0009 | Yes | ILD | Dieudé et al., 2011a, 2009 | |
| rs8182352 | NLRP1 | EU | 870/962 | 532/324 | 527/301 | 1.19 (95% CI 1.05–1.36) | p = 0.0065 | Yes | ILD | Dieudé et al., 2011b | |
| rs2004640 | IRF5 | French | ## 179/374 | ## 134/374 | 1.786 (95% Cl 1.25–2.58) | p = 0.002 | NA | ILD | Dieudé et al., 2009 | ||
| rs7574865 | STAT4 | ||||||||||
| VARIANTS ASSOCIATED WITH IMPROVED PROGNOSIS | |||||||||||
| rs4728142 | IRF5 | Caucasian | 914 cases | 529 cases | 0.75 (95% CI 0.62–0.90) | p = 0.002 | Longer survival | Lower level of IRF5 | Sharif et al., 2012 | ||
Candidate gene approach studies with limited power but increasing sample sizes have reported several candidate polymorphisms that may confer risk for SSc-ILD. Discovery and Replication stages show numbers of case and control patients. ## symbol indicate a case-case study.