Friday, February 13, 2009

Heart and Gum Disease

An interesting article from PLOS Genetics, one that ties two of the most common inflammatory chronic disease together.
Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis

Summary

Coronary heart disease (CHD) and periodontitis are the most widespread diseases in the Western industrialized world and pose a substantial health threat to populations worldwide. CHD is a leading cause for premature death, and periodontitis is the major cause for tooth loss in adults over 40 years. Both diseases are associated with similar risk factors such as smoking, diabetes, and gender, and both diseases are further characterized by a chronic inflammatory process. In the last year, several genome studies have identified a region of the human genome near the CDKN2A and CDKN2B genes as having an influence on CHD. We show that this genetic region, being the most important susceptibility locus for CHD to date, is also associated with a substantial risk increase of aggressive periodontitis. The associated genetic region maps to a genomic region that codes for an “antisense RNA,” which partly overlaps regulatory and coding sequences of genes CDKN2A/CDKN2B. The interplay between these common inflammatory complex diseases could be partially due to the shared genetic risk variants of this antisense RNA.

Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, et al. (2009) Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis. PLoS Genet 5(2): e1000378. doi:10.1371/journal.pgen.1000378

Thursday, February 12, 2009

Early Heart Attacks and genetic variation

A slew of brief communications in Nature Genetics (before publication) discuss the impact of nine different genetic variants that are associated with early myocardial infarction (commonly referred to as a heart attack. The reports are from the myocardial infarction consortium and identified nine SNPs (three new and six previously identified SNPs associated with early heart attack. The three newly identified ones are: MRPS6-SLC5A3-KCNE2 on chromosome 21, PHACTR1 on chromosome 6, and WDR12 on chromosome 2. They did not find any association with Copy Number Variants (CNVs).

Links
Science Daily article
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

New susceptibility locus for coronary artery disease on chromosome 3q22.3

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease



Sunday, February 1, 2009

Welcome to Cardiovascular Genetics!

Welcome to the inaugural post of the Cardiovascular genetics blog. So what is cardiovascular genetics? why am I blogging about it? and what can you get out of it? All fair questions.

As you probably know heart disease is the number one cause of mortality and morbidity in the US and has been for the last 50 years. This has led to an incredible amount of health care dollars ($448 billion in 2008 in the $US) in order to stem the tide of mortality and better address this problem. However, despite these efforts we still are faced with the incredible complexity surrounding heart disease. A good portion of the risk of heart disease is heritable, meaning that if you have relatives that have heart disease you may be at risk itself. Cardiovascular diseases are also plastic, so your environment, diet, and behavior can contribute to the risk for developing heart disease. This provides an amazing array of confusion and often frustration in patients when trying to interpret what their physician may be telling them. The application of genetics to understanding heart disease is still relatively new but is fast becoming an important aspect of understanding disease.

I have Ph.D. in anthropological genetics and have a long standing interest in understanding how genetics are related to heart disease and which genes in the human genome impact heart disease. So I've started this blog to really keep up with the current literature, digest it, and interpret it a meaningful way that I may or may not be able to pass on to you as reader. Often times the available scientific literature is written in ways that it takes a Ph.D. to get through the language. Hopefully. I will be able to translate it into a more palatable format.