GWAS on Cataract and HDL in the PMRP

The primary goals of this project are to develop and validate electronic phenotyping algorithms, to accurately identify cases and controls while maintaining a positive predictive value (PPV) of >95%, and to conduct a genome wide association study that advances understanding of two specific yet interrelated disease states, while simultaneously engaging the community in these research efforts. Lipid abnormalities and cataracts are both diseases of public health significance, they share common risk factors, and they are both complex diseases which likely have many genes contributing to disease development. Whole genome association studies with these two outcomes and environmental risk factors could yield novel data about the etiology of the two separate outcomes as well as their interaction. PhenX is a project designed to prioritize Phenotypes and eXposure measures for Genome-wide Association Studies (GWAS). The PhenX Toolkit is a valuable resource for researchers who are planning or expanding a study and would like to incorporate well established measures that have been recommended by experts in the field. We are currently interested in gene-environment interactions for "age related cataract".]]> Genome-Wide Study of Cataract and Low HDL in the Personalized Medicine Research Project: Marshfield-Cataract DefinitionGenome-Wide Study of Cataract and Low HDL in the Personalized Medicine Research Project: Marshfield-Low HDL DefinitionMarshfield Clinic Personalized Medicine Research Project Information SheetResearch Consent/Authorization Form, Marshfield Clinic Research FoundationPersonalized Medicine Research Project - PhenX ToolkitCataract - (Please see additional document Marshfield-CataractDefinition) Low HDL - (Please see additional document Marshfield-LowHDLDefinition)]]> Cataract and HDL Time Line September 2002 - Personalized Medicine Research Project (PMRP) launches recruitment November 2007 - IRB officially approves the 1st GWAS study for Personalized Medicine to be included in a data-repository (dbGaP) December 2007 - Cut-off date for Cataract and Low HDL cohort enrollment January 2008 - Began phenotyping process January 2009 - Selected samples to be genotyped February 2009 - Samples shipped and received at CIDR August 2010 - Samples shipped to CIDR for Resistant hypertension October 2010 - Samples shipped to CIDR for Glaucoma October 2011 - Collected additional phenotypic data from the PhenX Toolkit Funding for data collection with PhenX variables has been provided by the NHGRI PhenX RISING program. ]]>