Scientific Publications

Genetics of human cardiovascular disease.

Publication TypeJournal Article
AuthorsKathiresan, S., and Srivastava D.
AbstractCardiovascular disease encompasses a range of conditions extending from myocardial infarction to congenital heart disease, most of which are heritable. Enormous effort has been invested in understanding the genes and specific DNA sequence variants that are responsible for this heritability. Here, we review the lessons learned for monogenic and common, complex forms of cardiovascular disease. We also discuss key challenges that remain for gene discovery and for moving from genomic localization to mechanistic insights, with an emphasis on the impact of next-generation sequencing and the use of pluripotent human cells to understand the mechanism by which genetic variation contributes to disease.
Year of Publication2012
JournalCell
Volume148
Issue6
Pages1242-57
Date Published (YYYY/MM/DD)2012/03/16
ISSN Number0092-8674
DOI10.1016/j.cell.2012.03.001
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/22424232?dopt=Abstract