Genome-Wide Association Study of Glomerular Filtration Rate in a Cohort of Sickle Cell Disease Patients (original) (raw)

Blood

Abstract

BACKGROUND: Nephropathy is a common and devastating complication of sickle cell disease (SCD) associated with mortality (Elmariah et al, 2014). However, early detection of SCD nephropathy (SCDN) has proven difficult. Discovery of genetic markers associated with SCDN could greatly improve our ability to identify patients at risk for renal decline. To that end, we have performed a genome-wide association study (GWAS) of glomerular filtration rate (GFR) in our adult SCD cohort. METHODS: Medical history, laboratory values and DNA for genotyping were collected as part of a multicenter study of outcome-modifying genes in SCD. Participating institutions included sickle cell centers at Duke University, University of North Carolina at Chapel Hill, Emory University, and East Carolina University. GFR was estimated using the ‘Modification of Diet in Renal Disease’ (MDRD) study definition (Levey et al, 1999) and dichotomized at the clinically relevant threshold of 90 ml/min/1.73m2. 463 patients ...

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