<p>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) &#x3C;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 levels, fasting blood  sugar and serum creatinine at index date or within a 1-year window of the index date were extracted. Medication classes  at index date were identified using Mayo's Natural Language Processing-based system with RxNorm codification and NDF-RT  terminologies mapping. Smoking status was confirmed by natural language processing of clinical notes. Genotyping of ~600,000  SNPs across the genome is being conducted at the Broad Institute using the Illumina 660W platform. Statistical analyses  will be conducted to identify genetic variants associated with susceptibility to PAD.</p>

A Genome-Wide Association Study of Peripheral Arterial Disease

A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm