Completing the genetic spectrum influencing coronary artery disease: from germline to somatic variation

Cardiovascular Research
Aniruddh P Patel, Pradeep Natarajan

Abstract

Genetic and environmental factors influence the development of coronary artery disease (CAD). Genetic analyses of families and the population continue to yield important fundamental insights for CAD. For the past four decades, CAD human genetic research focused largely on the study of germline genetic variation in CAD and its risk factors. The first genes associated with CAD were discovered using basic Mendelian principles and pedigree analysis. Mapping of the human genome and advancement in sequencing technology sparked further discovery of novel genetic associations through exome sequencing and genome wide association analysis in increasingly larger populations. While prior work implicated in situ DNA damage as a feature of atherosclerosis, more recently, somatic mutagenesis in and clonal expansion of haematopoietic stem cells was found to influence risk of CAD. Mutations observed for this condition, termed clonal haematopoiesis of indeterminate potential, frequently occur within epigenetic regulator genes (e.g. DNMT3A, TET2, ASXL1, etc.), which are also implicated in leukaemogenesis. Hypercholesterolaemic mice with Tet2 bone marrow deficiency are predisposed to the development of atherosclerosis that may be partly related to...Continue Reading

References

Jan 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·L F SoriaB J McCarthy
Apr 4, 1986·Science·M S Brown, J L Goldstein
Aug 5, 1996·Biochemical and Biophysical Research Communications·J HatzistamouD A Spandidos
Aug 23, 1996·Atherosclerosis·H KiarisD A Spandidos
Dec 31, 1997·The Journal of Clinical Investigation·T A McCaffreyH L Bush
Feb 22, 2001·Science·J C VenterX Zhu
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Jul 31, 2002·Circulation·Scott W BallingerMarschall S Runge
Dec 20, 2002·Nature·Peter Libby
May 6, 2003·Nature Genetics·Marianne AbifadelCatherine Boileau
Jan 20, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Alexandra W van den Belt-DuseboutFlora E van Leeuwen
Mar 15, 2006·Cardiovascular & Hematological Agents in Medicinal Chemistry·P AlterB Maisch
Mar 24, 2006·The New England Journal of Medicine·Jonathan C CohenHelen H Hobbs
Oct 6, 2006·Clinical Research in Cardiology : Official Journal of the German Cardiac Society·Björn MayerHeribert Schunkert
Apr 28, 2007·Science·UNKNOWN Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical RShaun Purcell
May 5, 2007·Science·Anna HelgadottirKari Stefansson
May 5, 2007·Science·Ruth McPhersonJonathan C Cohen
Jul 20, 2007·The New England Journal of Medicine·Nilesh J SamaniUNKNOWN WTCCC and the Cardiogenics Consortium
Aug 10, 2007·Journal of the National Cancer Institute·Frank A ScappaticciHerbert Hurwitz
May 27, 2008·Clinical Pharmacology and Therapeutics·D M RodenD R Masys
May 12, 2009·Nature Genetics·Daniel LevyCornelia M van Duijn
May 12, 2009·Nature Genetics·Christopher Newton-ChehPatricia B Munroe
Apr 16, 2010·Nature·UNKNOWN International Cancer Genome ConsortiumHuanming Yang
May 29, 2010·Arteriosclerosis, Thrombosis, and Vascular Biology·Peter WilleitStefan Kiechl
Jun 25, 2010·Journal of Cancer Survivorship : Research and Practice·Christian Falk DahlAlv A Dahl
Aug 10, 2010·Trends in Molecular Medicine·Lenny DangShinsan M Su
Sep 22, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Hege S HaugnesSophie D Fosså
Oct 15, 2010·The New England Journal of Medicine·Kiran MusunuruSekar Kathiresan
Nov 12, 2010·The New England Journal of Medicine·Timothy J LeyRichard K Wilson
May 10, 2011·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·S AslibekyanA Baylin
Sep 9, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Henk VisscherUNKNOWN Canadian Pharmacogenomics Network for Drug Safety Consortium

❮ Previous
Next ❯

Citations

May 1, 2020·European Heart Journal·Ulf LandmesserThomas F Lüscher
Jun 2, 2020·Circulation·Shimrit AvrahamAmi Aronheim
Nov 13, 2019·JACC. Basic to Translational Science·Aniruddh P Patel, Pradeep Natarajan
Mar 8, 2021·Thrombosis and Haemostasis·María Del Pilar Valencia-MoralesSilvio Zaina

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Cardiovascular Disease & TET2

Cardiovascular diseases are the number one cause of deaths globally. Tet methylcytosine dioxygenase 2 (TET2)-mediated hematopoiesis has been implicated in accelerating heart failure. Here is the latest research on cardiovascular diseases and TET2.

Related Papers

Clínica e investigación en arteriosclerosis : publicación oficial de la Sociedad Española de Arteriosclerosis
José A Páramo Fernández
[Rinshō ketsueki] The Japanese journal of clinical hematology
Tomoya MutoAtsushi Iwama
Circulation. Genomic and Precision Medicine
Pradeep NatarajanSekar Kathiresan
International Journal of Hematology
Hiroyoshi Kunimoto, Hideaki Nakajima
© 2022 Meta ULC. All rights reserved