eMERGE Whole Genome Association Study of Peripheral Arterial Disease. Homo sapiens

The Electronic Medical Record Phenotypes and Community-engaged Genomic Association Study aims to identify genetic variants mediating susceptibility to peripheral arterial disease (PAD). The study leverages a biorepository of blood samples of 1688 PAD cases and 1649 controls, and the electronic medical record (EMR) to annotate the biorepository. PAD cases were identified from the vascular laboratory database as having an ankle brachial index (ABI) <0.9 at rest or after exercise or having non-compressible vessels. Controls were without prior history of atherosclerotic vascular disease and when tested, no evidence of ischemia on a stress test. Phenotypes and environmental exposures including age, ethnicity, demographic and anthropometric data are derived from the Mayo Electronic Medical Record (EMR). Comorbidities were determined using algorithms for diabetes and hypertension based on ICD-9 codes and medication use. Relevant laboratory data, including lipid... (for more see dbGaP study page.)