In this year, we have completed analysis of stage 1a and initial labwork for stage Ib of a whole genome association analysis of stroke. The initial phase of this work was published last year and the genotypes from this effort deposited in the NIH central genome wide association database dbGAP. In addition to analysis of stage 1a for common risk loci we have also performed and published analysis of these samples for copy number variants and assessed these variants for association with risk for disease. The second part of stage 1 genotyping is being carried out using additional samples from the Coriell repository. We have now expanded this work to include genome wide genotyping of greater than 800 ischemic stroke samples and 1000 controls at a density of approximately 555,000 genotypes per individual. The analysis of the simple disease association is ongoing within the Laboratory of Neurogenetics and we envisage that during the next year we will be performing follow-up genotyping in several of the critical loci identified from this work. With our colleagues at the Mayo clinic we are also using the genome wide SNP data generated in this project to perform genome wide association of results from brain imaging data. We are currently involved in follow up resequencing of positively associated loci from stage Ia of the genome wide association analysis in larger case control cohorts.
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