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Clin Chem Lab Med. 2011 Sep;49(9):1427-37. doi: 10.1515/CCLM.2011.620. Epub 2011 May 27.

Genetics of infectious diseases: hidden etiologies and common pathways.

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  • 1McGill Centre for the Study of Host Resistance, The Research Institute of the McGill University Health Centre, Montreal, PQ, Canada.


Since the completion of the human genome sequence, the study of common genetic polymorphisms in complex human diseases has become a main activity of human genetics. Employing genome-wide association studies, hundreds of modest genetic risk factors have been identified. In infectious diseases the identification of common risk factors has been varied and as in other common diseases it seems likely that important genetic risk factors remain to be discovered. Nevertheless, the identification of disease-specific genetic risk factors revealed an unexpected overlap in susceptibility genes of diverse inflammatory and infectious diseases. Analysis of the multi-disease susceptibility genes has allowed the definition of shared key pathways of inflammatory dysregulation and suggested unexpected infectious etiologies for other "non-infectious" common diseases.

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