Scanning the genome for risk of heart attack
Researchers at the Cleveland Clinic Foundation and University of California, San Francisco (UCSF) have teamed up with Celera Diagnostics to arrive at two novel genetic markers linked to the risk of heart attack.
The markers, a single nucleotide polymorphism (SNP) in the aquaporin 10 gene and a second SNP in a gene of unknown function, appear to be associated with a roughly doubled risk of heart attack. This puts the risk in line with factors such as smoking and high blood pressure, say the researchers who presented their data at the International Vascular Biology Meeting in Toronto, Canada in June.
While the gene of unknown function remains to be investigated, the role of the aquaporin gene ( AQP10), belonging to a group of membrane water channels whose discovery netted Peter Agre a share in the 2003 Nobel Prize in Chemistry, may lead to further understanding of the biology of cardiovascular disease.
DNA samples from the UCSF Genomic Resources Collection - comprising almost 750 subjects with a history of heart attack and just over 700 control subjects - were evaluated by Celera Diagnostics for the presence of more than 9000 functional SNPs. Celera Diagnostics, based in Alameda, CA, is a 50/50 joint venture between Applied Biosystems and Celera Genomics. The partnership was founded in 2001 with the aim of discovering genetic markers for disease and developing diagnostic tests to 'predict, characterize, monitor and select therapy' for cardiovascular disease, autoimmunity, central nervous system disorders, and cancer.
The markers identified in this latest study appear with relatively high frequency (30 to 50 per cent), report the researchers, '[making] them common enough to evaluate risk in a large fraction of the general population'.