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Dozens of cholesterol genes found

Thursday August 5th, 2010

An international study has uncovered 95 genetic variants that could help scientists fight heart disease, it was announced today.

Researchers from 17 countries examined genetic information from more than 100,000 people, collated from 46 previous studies.

They found 95 areas of genes – 59 of which were previously unknown – significantly associated with blood lipid levels, such as cholesterol and triglycerides.

Of the 95 examined, a site on chromosome 1 was associated strongly with variations in the serum levels of low-density lipoprotein cholesterol (LDL-C), the so-called "bad cholesterol."

The report, in the journal Nature, has been welcomed by Professor Weissberg, medical director at the British Heart Foundation.

“We’ve known for a long time that having high levels of harmful LDL cholesterol in the blood can lead to heart disease. That’s why medicines that lower cholesterol, such as statins, are so effective at preventing heart attacks,” he said.

“A great deal more research is needed to understand precisely what these genes do and how they interact.

“Although this is just a first step down a long road the good news is that the more we understand about cholesterol regulation, the more likely it is that new drugs will be developed to prevent heart disease.”

A second report in Nature, which examines one of the common variants in the first report, has revealed not only the involvement of an unexpected genetic pathway in lipid metabolism but also a blueprint for unravelling biological connections between lipid levels and coronary heart disease.

Dr Sekar Kathiresan, director of Preventive Cardiology at Massachusetts General Hospital (MGH) and co-senior author on both papers, said: “Although blood concentrations of cholesterol and triglycerides have long been known as risk factors for cardiovascular disease, the extent to which genetics contributes to those concentrations and just how alterations in the underlying genes leads to the development of disease has been incredibly difficult to piece together."

* Women with breast cancer could get gene therapy to prevent the disease returning, researchers revealed yesterday.

Scientists at Oxford University have found a gene linked to disease recurrence, it was announced.

The gene, known as POLQ, is linked to an eight times increase in the risk of breast cancer recurring, according to the findings, reported in the journal OncoTarget.

The findings come from studying the details of more than 1,000 women with breast cancer from Britain, the Netherlands and Sweden.

Professor Gillies McKenna, director of the Gray Institute, Oxford University, said: "This is important research which provides evidence that POLQ may be a very appealing target for drug development.

"As POLQ is not switched on by most healthy tissues it is possible that if drugs could be developed to block this gene, they would make tumours more responsive to treatments such as radiotherapy and chemotherapy but not increase the side effects caused to healthy cells.

"Drugs that block POLQ may be able to reverse the very poor survival associated with over production of this gene."

Dr Lesley Walker, of Cancer Research UK, which helped fund the research, said: "Fundamental scientific research like this to examine the genetic causes for breast cancer provides us with the foundations to develop new exciting drugs to beat this disease and increase survival in the future."

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids. Nature August 4 2010

Overexpression of POLQ Confers a Poor Prognosis in Early Breast Cancer Patients. Geoff S Higginset al. OncoTargets August 2010

Tags: Cancer | Diet & Food | Genetics | Heart Health | UK News | Womenís Health & Gynaecology | World Health

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