Skip to main content
Premium Trial:

Request an Annual Quote

Nature Study Highlights New Loci Linked to Peripheral Artery Disease

A genome-wide association study powered by electronic health record (EHR) data has identified a number of genetic factors associated with peripheral artery disease (PAD), according to a report in this week's Nature Medicine. In the study, an international research team analyzed EHR data — including genetic and clinical information — on over 250,000 PAD patients and controls of European, African, and Hispanic ancestry participating in the Million Veteran Program. Among their findings, which were replicated in an independent sample of patients and controls from the UK Biobank, are 18 novel genomic loci associated with PAD risk including four that appear to drive vascular disease more specifically in the peripheral vasculature. The findings, the authors write, demonstrate how "large biobanks that couple genetic variation with dense EHR data can be leveraged for biological insights that can inform clinical care." GenomeWeb has more on this, here.

A new name for hereditary breast and ovarian cancer syndrome (HBOC) could help reduce confusion among both patients and clinicians, raise cancer awareness, and save lives, according to a comment piece in last week's Nature. Mutations in the BRCA1 and BRCA2 genes underlie HBOC, but these mutations also drive a number of other cancers in both males and females, writes University of Washington researcher Colin Pritchard. "Because this is not widely understood, testing is not being done for the right people at the right time," he notes. Pritchard proposes that HBOC be renamed King syndrome after Mary-Claire King who uncovered the BRCA1 gene. The name is easy to remember, doesn’t imply that the condition affects only one sex, or that BRCA1 or BRCA2 mutations will lead to only certain types of cancer, he argues. "Using names that are simple and flexible, instead of obtuse and out of step with emerging understanding, could save lives by improving communication and awareness," he adds.