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Eur J Vasc Endovasc Surg. 2009 Dec;38(6):676-82. doi: 10.1016/j.ejvs.2009.08.010. Epub 2009 Sep 26.

Developments in genomics to improve understanding, diagnosis and management of aneurysms and peripheral artery disease.

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  • 1Sigfried and Janet Weis Center for Research, Geisinger Clinic, 100 North Academy Avenue, Danville, PA 17822-2611, USA.


Genome-wide approaches, including microarray-based expression profiling, DNA linkage studies and genetic association studies, offer an unbiased way to identify genetic risk factors and biological processes leading to discoveries, which might help in the development of new diagnostic and therapeutic approaches for a wide range of diseases. Currently, the number of published genome-wide analyses for aneurysms and peripheral artery diseases is still limited, and it is difficult to generalise about the disease pathogenesis or genetic risk factors contributing to these diseases. Large multicentre studies are needed to provide sufficient statistical power, and replication studies are essential before these findings are used for defining clinical policies of diagnosis and treatment. The biggest future challenge will be to translate the genomic information to the clinical settings so that it will improve our understanding of the disease processes, help us to develop better diagnostic tools and lead to the design of new ways to manage aneurysms and peripheral artery disease in the era of personalised medicine. Characterisation of diseases at the molecular level is likely to lead to more accurate diagnoses and the use of 'genomic nosology' of diseases.

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