Heart Disease: Genetics and Genomics - September 8, 2015

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Heart Disease

Heart Disease: Genetics and Genomics - September 8, 2015

CDC and Related Info

• Heart age: Is your heart older than you?
• Heart disease and family health history
• Heart disease
• Be one in a million this American Heart Month
• Women and heart disease
• Vital Signs: High Blood Pressure and Cholesterol
• Genomics and Heart Disease
• What is familial hypercholesterolemia?Information from the CDC Public Health Genomics toolkit.
• What are state public health programs doing about reducing burden of familial hypercholesterolemia?Information from CDC clickable state map
• A million hearts, a thousand genes and your family health history

It’s complicated! Large genetic study of coronary disease shows how much we don’t know 
Larry Husten, Cardio Brief, September 8, 2015

A comprehensive 1000 genomes-–based genome-wide association meta-analysis of coronary artery disease 
M Nikpay et al. Nature Genetics, September 7, 2015

Heart age: Is your heart older than you? 

The genetics of cardiovascular disease in Canadian and international aboriginal populations.
Arbour L et al. Can J Cardiol 2015 Sep (9) 1094-115

Cardiovascular pharmacogenomics: current status and future directions.
Roden DM et al. J. Hum. Genet. 2015 Jul 16.

Prediction of causal candidate genes in coronary artery disease loci.
Brænne I et al. Arterioscler. Thromb. Vasc. Biol. 2015 Aug 20.

Gene scanning and heart attack risk.
Barth AS et al. Trends Cardiovasc. Med. 2015 Jul 17.

A rapid, high-quality, cost-effective, comprehensive, and expandable targeted next-generation sequencing assay for inherited heart diseases.
Wilson KD et al. Circ. Res. 2015 Aug 11.

Future translational applications from the contemporary genomics era: a scientific statement from the American Heart Association.
Fox CS et al. Circulation 2015 May 12. (19) 1715-36

Statin Therapy, Genetics and Heart Disease - March 4, 2015

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials
Jessica Mega et al, Lancet, March 2015

Statins work for those at highest risk of heart attack - study, the Guardian, Mar 3

Dosing guideline for simvastatin and SLCO1B1, Clinical Pharmacogenomics Implementation Consortium 2014 update

Pharmacogenetics and statin treatment: Reality or theory?
Bousoula E et al. Curr Vasc Pharmacol 2015 Jan 30.

Prediction of LDL cholesterol response to statin using transcriptomic and genetic variation.
Kim Kyungpil et al. Genome Biol. 2014 (9) 460

No association between CYP3A4*22 and statin effectiveness in reducing the risk for myocardial infarction.
Leusink Maarten et al. Pharmacogenomics 2014 Aug (11) 1471-7

Pharmacogenetics of statin-induced myopathy: A focused review of the clinical translation of pharmacokinetic genetic variants.
Talameh Jasmine A et al. J Pharmacogenomics Pharmacoproteomics 2014 Apr 23. (2)

The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.
Ramsey L B et al. Clin. Pharmacol. Ther. 2014 Oct (4) 423-8

Pharmacogenomics, lipid disorders, and treatment options.
Gryn S E et al. Clin. Pharmacol. Ther. 2014 Jul (1) 36-47

Cardiovascular pharmacogenomics: expectations and practical benefits.
Turner R M et al. Clin. Pharmacol. Ther. 2014 Mar (3) 281-93

Genetics and personalized medicine--a role in statin therapy?
Patel Jaideep et al. Curr Atheroscler Rep 2014 Jan (1) 384

Statin myotoxicity: a review of genetic susceptibility factors.
Needham M et al. Neuromuscul. Disord. 2014 Jan (1) 4-15

February is Heart Disease Awareness Month: Be One in a Million - February 17, 2015

CDC information: Be one in a million this American Heart Month

CDC information: Heart disease is the leading cause of death for women in the United States

CDC information: High blood pressure and cholesterol: Out of control in the United States

CDC information: Genomics and Heart Disease

Genomic advances are revolutionizing our understanding of heart disease and cardiology
A special cardiology web focus of Genetics in Medicine

Find FH: The FH Foundation, AMGEN and Stanford University launch the Find FH initiative (Flag, Identify, Network, Deliver), Jan 29

Recent Genomic Insights

American Heart Association Cardiovascular Genome-Phenome Study 
Ivor Benjamin et al. Circulation, January 2015

Editorial: Primordial prevention of cardiovascular disease. 
Matthew W. Gillman. Circulation January 2015

A genetic basis for coronary artery disease.
Roberts R. Trends Cardiovasc Med. 2014 Oct 17.

Race, common genetic variation, and therapeutic response disparities in heart failure.
Taylor MR, et al. JACC Heart Fail. 2014 Dec;2(6):561-72. Doi

Coronary heart disease and genetic variants with low phospholipase A2 activity.
Polfus LM, Gibbs RA, Boerwinkle E. N Engl J Med. 2015 Jan 15;372(3):295-6.

PLA2G10 gene variants, sPLA2 activity and coronary heart disease risk.
Guardiola M, et al. Circ Cardiovasc Genet. 2015 Jan 12

Familial hypercholesterolemia-epidemiology, diagnosis, and screening.
Singh S, Bittner V. Curr Atheroscler Rep. 2015 Feb;17(2):482.

Heart Month 2015: We've come a long way but still have "miles to go before we sleep"  by Ross Dulmaine, Feb 16

Familial Hypercholesterolemia: Call to Action and Recent Insights - December 18, 2014

CDC paper: Reducing the burden of disease and death from familial hypercholesterolemia: A call to action.
Knowles JW, et al  Am Heart J. 2014 Dec;168(6):807-11

Proceedings of the FH Foundation's inaugural Familial Hypercholesterolemia Summit: Awareness to Action, the FH Foundation (2014)

A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: pragmatic and economic perspectives.
Purchase S, et al Int J Evid Based Healthc. 2014 Dec

Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010. 
Mundal L, et al J Am Heart Assoc. 2014 Dec 2;3(6).

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects.
Jannes CE, et al. Atherosclerosis. 2014 Nov 14;238(1):101-107

Canadian Cardiovascular Society position statement on familial hypercholesterolemia.
Genest J, et al.  Can J Cardiol. 2014 Dec;30(12):1471-81

Recommendations for the management of patients with familial hypercholesterolemia.
Feldman DI, et al. Curr Atheroscler Rep. 2015 Jan;17(1):473

Systematic detection of familial hypercholesterolaemia in primary health care: A community based prospective study of three methods.
Kirke AB, et al. Heart Lung Circ. 2014 Sep 30

Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.
Lahtinen AM, et al. Atherosclerosis. 2014 Nov 18;238(1):64-69

Therapy: PCSK9 inhibitors for treating familial hypercholesterolaemia.
Mabuchi H, Nohara A. Nat Rev Endocrinol. 2014 Nov 18

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature. 2014 Dec 10 

Molecular basis for familial hypercholesterolemia, Brown and Goldstein Video (Sept 2014) 

Familial Hypercholesterolemia: Saving Lives Through Early Detection - September 25, 2014

September 24 was Familial Hypercholesterolemia Awareness Day

New CDC paper:  Reducing the burden of disease and death from familial hypercholesterolemia: A call to action
Joshua W. Knowles, Emily C. O'Brien, Karen Greendale, Katherine Wilemon, Jacques Genest, Laurence S. Sperling, William A. Neal, Daniel J. Rader, Muin J. Khoury.  American Heart Journal 2014 Sept 16

What is familial hypercholesterolemia? Information from the CDC Public Health Genomics toolkit.

History of discovery- The LDL receptor
Joseph L. Goldstein and Michael S. Brown Arteriosclerosis, Thrombosis, and Vascular Biology. 2009; 29: 431-438

Understanding familial hypercholesterolemia, Preventive Cardiology, July 2014

What are state public health programs doing about reducing burden of familial hypercholesterolemia? Information from CDC clickable state map

Helping patients with familial hypercholesterolemia find healthcare providers, information from the FH Foundation

Heart Disease: Recent Genomic Insights and a Million Hearts - August 14, 2014

CDC information: Heart disease and prevention

CDC information: Heart disease and family health history

CDC Medscape Expert Commentary: Can we save a million hearts? Tom Frieden, CDC Director,  Aug 11

MillionHearts Initiative: US  Department of Health and Human Services

CDC blog post: A million hearts, a thousand genes and your family health history

Did you know? >1000 genes have been reported in relation to risk and outcomes of coronary heart disease, including >100 genomewide association studies. To find out more, visit the HuGE Navigator  

Find out which genetic conditions and tests are associated with coronary artery disease from the GeneTests website

Recent Findings

Piecing together the puzzle of coronary artery disease. 
Esther Lau. Nature Reviews Genetics, August 5, 2014  

Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. 
Ville-Petteri Mäkinen et al. PLOS Genetics, July 2014

A long noncoding RNA protects the heart from pathological hypertrophy. 
Pei Han, et al. Nature, August 10, 2014

ICYMI podcast: Novel biomarkers for acute myocardial infarction: Is MicroRNA the 
new kid on the block? July 2014