Immunogenetic studies of lung dysfunction potentially relevant to pulmonary impairment after tuberculosis (TB)
| Biomarker/gene | Polymorphism | Implication on lung pathology/function | Reference |
| TB | |||
| MMP-1 | MMP-1 -1607G (1G) (rs1799750) | Extensive fibrosis after 1 year of TB treatment Cavitary disease Endobronchial TB and tracheobronchial stenosis | [145–147] |
| MCP-1+MMP-1 | MCP-1 -2518G (G/G) (rs1024611) MMP-1 -1607GG (2G/2G) Guanine insertion at this locus | Permanent lesions after TB treatment Fibrosis Bronchiectasis | [148] |
| TOLLIP | TOLLIP rs5743899 rs3750920 | Decreased TOLLIP mRNA expression Increased inflammatory cytokine expression Increased risk for TB | [149] |
| COPD | |||
| MMP-1+MMP-12 | MMP-1 2G+MMP-12 nsSNP (rs652438) | Increased rate of lung function decline | [150] |
| MMP-9 | MMP-9 -1562C/T | Increased risk of COPD in a Korean population | [151] |
| MMP-12 | MMP-12 rs652438 and rs2276109 | Severe (GOLD stage III) and very severe COPD (GOLD IV), lower FEV1 % | [152] |
| TIMP-2 | TIMP-2 +853G/A -418G/C | Increased risk for COPD Decreased transcription and stability of mRNA | [153] |
| TNF-α | TNF-α -308G/A (rs1800629) | Increased risk of COPD Increased yearly reduction in FEV1 Chronic bronchitis Elevated TNF-α, IL-8, and myeloperoxidase in sputum | [154,155] |
| IL-8 | IL-8 rs4073 rs2227306 rs2227307 | Significant decrease in FEV1 and FVC during follow-up of COPD patients | [156] |
| IPF | |||
| TGF-β+TNF-α | TGFβ (rs1800469) +TNF-α (rs361525) | Additive effect on lung impairment measured as FEV1 | [157] |
| IL-6 | IL-6 -174G/C | Decrease in FEV1 | [158] |
| IL-1RA | IL-1RN +2018C/T (rs419598) Variable number tandem repeat (VNTR)*2 rs2637988 | Risk for fibrosing alveolitis and IPF Increased susceptibility for IPF Decreased IL-1RA mRNA levels that may predispose to IPF | [159, 160] |
| TNF-α | TNF-α -308G/A (rs1800629) | Fibrosing alveolitis risk | [159] |
| IL-6 | IL-6 intron 4A/G | Lower carbon monoxide diffusion | [161] |
| TGF-β | TGF-β Codon 10T/C(rs1982073) Codon 25G/C(rs1800471) | Decreased gas exchange in IPF patients | [162, 163] |
| MUC5B | MUC5B rs35705950 rs868903 | Associated with pulmonary fibrosis in genome-wide association studies Increased MUC5B expression | [164–166] |
| TOLLIP | TOLLIP rs5743890 rs111521887 rs5743894 | Associated with reduced TOLLIP expression in lung tissue from IPF patients rs5743890 linked to mortality in IPF patients |
MMP: matrix metalloproteinase; MCP: monocyte chemoattractant protein; COPD: chronic obstructive pulmonary disease; TIMP: tissue inhibitor of metalloproteinase; TNF: tumour necrosis factor; IL: interleukin; IPF: idiopathic pulmonary fibrosis; TGF: transforming growth factor; GOLD: Global Initiative for Chronic Obstructive Lung Disease; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity.