Question

One page summary of recent discovery in the field of genetics.

Answer 1

--> International team identifies 13 new gene sites associated with heart disease :-

The World Health Organization estimates that heart diseases claim upwards of 17 million lives a year, making them the world's deadliest class of diseases. Just like lung cancer, while environmental factors like smoking and drinking certainly put people at higher risk of developing cardiovascular diseases, there is believed to be a strong genetic component to them as well.

Last year, an international team of scientists published the results of a study that analyzed the genetic profiles of over 80,000 people, making it the largest screen for heart-disease related genes ever conducted (around ten times larger, to be exact). The study confirmed 10 of 12 previously reported heart-disease-related genes, and identified 13 sites.

Interestingly, many of the newly identified genes have no known relation to previously identified cardiovascular risk factors like cholesterol or hypertension, which suggests that there are promising therapeutic mechanisms yet to be discovered.

"The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results," explains Dr. Sekar Kathiresan, the director of Preventive Cardiology at Massachusetts General Hospital and one of the study's lead authors. "If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don't yet understand."

Although inherited factors may account for as much as 60 percent of the variation in risk for coronary artery disease, variants identified in genome-wide association studies (GWAS) account for only a small fraction of that risk. Since some of those previous studies may not have been large enough to identify genes with modest effect, 167 investigators at research centers around the world formed the Coronary ARtery DIsease Genomewide Replication and Meta-analysis (CARDIoGRAM) Consortium.

Results of the analyses confirmed 10 of 12 previously reported gene variants associated with coronary artery disease and identified 13 sites not previously reported. While most of these variants were most strongly associated with early-onset heart disease, the associations did not vary with the actual clinical condition for which patients were treated - heart attack or coronary artery disease requiring bypass surgery or angioplasty/stenting. Of the 23 variants validated in this study, seven are associated with LDL cholesterol levels and one with hypertension, but the others have no relation to known cardiovascular risk factors.