CHAPTER 5
There is compelling evidence that sarcoidosis is the product of environmental triggers operating in an immunogenetically susceptible host that results in the formation of immune-mediated granulomas at disease sites. There is also support for the concept that immunogenetic predisposition determines t...
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| Language: | English |
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| Online Access: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.626.6888 http://www.ildcare.eu/downloads/artseninfo/sarcoidosis/chapter 5 genetics.pdf |
| Summary: | There is compelling evidence that sarcoidosis is the product of environmental triggers operating in an immunogenetically susceptible host that results in the formation of immune-mediated granulomas at disease sites. There is also support for the concept that immunogenetic predisposition determines the pattern of organ involvement in sarcoidosis. Two approaches have been taken to determine the genetics of sarcoidosis: familial studies and case-control studies of sporadic disease. In familial studies, linkage or target gene association approaches are taken to the association of genotype with disease. In linkage studies, a series of linkage markers that span the whole genome are used to track marker pattern with disease. The area of possible association can then be mapped more finely with a second set of markers to target the specific area of interest. Familial sarcoidosis The first indication that sarcoidosis may be of genetic predisposition came from the recognition of familial clustering of disease in several populations. The first record of disease in two German sisters appeared in 1923 [1]. Familial disease has also been confirmed in northern Sweden and central Hokkaido in Japan [2]. Pietinahlo et al. [3] |
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