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Cell DOI:10.1016/j.cell.2012.03.001

Genetics of human cardiovascular disease.

Publication TypeJournal Article
Year of Publication2012
AuthorsKathiresan, S, Srivastava, D
Date Published2012 Mar 16
KeywordsAnimals, Cardiovascular Diseases, Disease Models, Animal, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Humans

Cardiovascular 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.


Alternate JournalCell
PubMed ID22424232
PubMed Central IDPMC3319439
Grant ListP01 HL089707 / HL / NHLBI NIH HHS / United States
R01 HL057181-18 / HL / NHLBI NIH HHS / United States
U01 HL100406-04 / HL / NHLBI NIH HHS / United States
U01 HL100406 / HL / NHLBI NIH HHS / United States
R01 HL057181 / HL / NHLBI NIH HHS / United States
P01 HL089707-05 / HL / NHLBI NIH HHS / United States