Family | Polymorphism(s) | Relation to phenotype# | Endpoints | Reference |
Cytokines | ||||
TNF‐α | −238 (A/G), −308 (A/G) in promoter | A‐238↓ | SP/PMF +(A‐308) | 16 |
+489 | ND | COPD | 17 | |
IL‐6 | −174 | C‐174↓ | Serum IL‐6, arthritis | 18 |
IL‐10 | −1082, −819, −519 , all (A/G) in promoter | G‐1082 ↑ | No link with MS | 19 |
MCP‐1 | −2518 (G/A), −2076 (A/T) | G‐2518 ↑ | ND | 20,21 |
RANTES | −403, −28 | G‐28 ↑ | HIV‐1 progress | 22,23 |
Growth factors | ||||
TGF‐β | +915 (signal sequence), codon 25 A/A | A‐915 ↓ | Allograft fibrosis | 24,25 |
−509 (promoter) | homozygous ↑ | Asbestosis | ||
PDGF‐A | IVS4 and IVS3 minisatelites | ND | SP (phenotype) | 26 |
Various | ||||
CYP450 | CYP2A6, 1A2, 2D6, 2E1 | Yes | Lung cancer | 27 |
G6PDH | Deficiency in 15% of population | (0/+) | Sarcoidosis | 28 |
CC10/16 | −38 (G/A) | 38AA ↓ | Asthma | 29 |
GST | GSTM1 (−/+), GST‐θ (−/+), GST?π (−/+) | (0/+) | Asbestosis (GSTM) | 30 |
#: Phenotype defined as altered production of (active) protein or messenger ribonucleic acid (mRNA)-product
↑: increase
↓: decrease
TNF‐α: tumour necrosis factor‐α
IL: interleukin
MCP‐1: monocyte chemotactic protein‐1
TGF‐β: transforming growth factor‐β
PDGF‐A: platelet derived growth factor
CYP450: various cytochrome P450 isozymes
G6PDH: glucose‐6‐phosphate dehydrogenase
CC10/CC16: Clara cell protein
GST : glutathione‐S‐transferase
ND : not determined
SP: simple pneumoconiosis
PMF: progressive massive fibrosis
MS: multiple sclerosis
COPD: chronic obstructive pulmonary disease
HIV‐1: acquired immunodeficiency syndrom
A: adenosine
G: guanine
T: Thymine
RANTES: regulated on activation, normal T‐cell expressed and secreted