Abstract
Diffuse (interstitial) lung disease comprises a wide variety of conditions, individually relatively uncommon but collectively being found in approximately 50 per 100,000 population. Some of these diseases are of known aetiology but others are not. It has been suggested that the environment is a major contributory factor in this group of diseases. However, since not all individuals exposed to a common environment develop interstitial diseases, it can be hypothesised that there is a genetic predisposition to their development. These diseases cause major morbidity and mortality due to lung injury and fibrosis. It follows that, if individuals who are genetically predisposed to develop diseases characterised by lung injury and fibrosis can be identified, then management strategies can be designed which will attempt to identify and treat early disease and, in the longer term, to develop targeted genetic interventional approaches to treatment.
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- Black C. M., Welsh K. I. Genetics of scleroderma. Clin Dermatol. 1994 Jul-Sep;12(3):337–347. doi: 10.1016/0738-081x(94)90286-0. [DOI] [PubMed] [Google Scholar]
- Briggs D. C., Vaughan R. W., Welsh K. I., Myers A., duBois R. M., Black C. M. Immunogenetic prediction of pulmonary fibrosis in systemic sclerosis. Lancet. 1991 Sep 14;338(8768):661–662. doi: 10.1016/0140-6736(91)91235-m. [DOI] [PubMed] [Google Scholar]
- Ghosh S., Collins F. S. The geneticist's approach to complex disease. Annu Rev Med. 1996;47:333–353. doi: 10.1146/annurev.med.47.1.333. [DOI] [PubMed] [Google Scholar]
- Grunewald J., Janson C. H., Eklund A., Ohrn M., Olerup O., Persson U., Wigzell H. Restricted V alpha 2.3 gene usage by CD4+ T lymphocytes in bronchoalveolar lavage fluid from sarcoidosis patients correlates with HLA-DR3. Eur J Immunol. 1992 Jan;22(1):129–135. doi: 10.1002/eji.1830220120. [DOI] [PubMed] [Google Scholar]
- Martinetti M., Tinelli C., Kolek V., Cuccia M., Salvaneschi L., Pasturenzi L., Semenzato G., Cipriani A., Bartova A., Luisetti M. "The sarcoidosis map": a joint survey of clinical and immunogenetic findings in two European countries. Am J Respir Crit Care Med. 1995 Aug;152(2):557–564. doi: 10.1164/ajrccm.152.2.7633707. [DOI] [PubMed] [Google Scholar]
- McHugh N. J., Whyte J., Artlett C., Briggs D. C., Stephens C. O., Olsen N. J., Gusseva N. G., Maddison P. J., Black C. M., Welsh K. Anti-centromere antibodies (ACA) in systemic sclerosis patients and their relatives: a serological and HLA study. Clin Exp Immunol. 1994 May;96(2):267–274. doi: 10.1111/j.1365-2249.1994.tb06552.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Richeldi L., Sorrentino R., Saltini C. HLA-DPB1 glutamate 69: a genetic marker of beryllium disease. Science. 1993 Oct 8;262(5131):242–244. doi: 10.1126/science.8105536. [DOI] [PubMed] [Google Scholar]
- Vázquez-Abad D., Rothfield N. F. Autoantibodies in systemic sclerosis. Int Rev Immunol. 1995;12(2-4):145–157. doi: 10.3109/08830189509056709. [DOI] [PubMed] [Google Scholar]