IPM BioBank GWAS

The Institute for Personalized Medicine (IPM) Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Biobank populations include 28% African American (AA), 38% Hispanic Latino (HL) predominantly of Caribbean origin, 23% Caucasian/White (CW). IPM Biobank disease burden is reflective of health disparities with broad public health impact: average body mass index of 28.9 and frequencies of hypertension (55%), hypercholesterolemia (32%), diabetes (30%), coronary artery disease (25%), chronic kidney disease (23%), among others. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites, waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. Minorities are strikingly underrepresented in GWAS, including Coronary Artery Disease (CAD) and Chronic Kidney Disease; multigenic genetic risk scores for CAD have been recently validated in European ancestry populations, but not in AA or HL populations. Several important opportunities exist for extending additional GWAS to minority populations with a shared risk spectrum of CAD and CKD. For example, progressive CKD is a major and independent risk factor for CVD with an inverse relationship between estimated GFR (eGFR), and risk for mortality and cardiovascular events. This increased risk is only partially explained by the prevalence of cardiovascular risk factors among these patients. We conducted a GWAS of CAD and CKD related phenotypes in IPM Biobank with the primary objective to explore the genetics of overlapping CAD and CKD predominantly in minority populations characterized by increased risk.]]>
Coronary Artery Disease Case Definition AlgorithmChronic Kidney Disease Case Definition AlgorithmHypertension Case Definition AlgorithmLipids Case Definition AlgorithmType 2 Diabetes Case Definition AlgorithmQuality Control MeasuresCases and controls for each of the relevant phenotypes were initially selected using electronic case definition algorithms (CDA's) for CAD, CKD, hypertension (created by IPM e-phenotyping team) and T2DM and lipids (modified from eMERGE phase I CDA's) applied to the IPM Biobank. Age filters were applied: (cases <66; controls >59). This was followed by expert physician review of every case/control classification. As such, every case and every control in our sample has been validated by an expert physician reviewer. Population distributions in both cases and controls are consistent with those of our Biobank and as such, of our local population (AA~25%, EA~25%, HL~40%).]]>