Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Rare and common genetic variations responsible for high triglyceride levels in blood

26.07.2010
It can make blood look like cream of tomato soup. Patients with high levels of triglycerides in their blood, a disease called hypertriglyceridemia (HTG) face an increased risk for heart disease and stroke. HTG affects one in 20 people in North America and is also associated with obesity, diabetes and pancreatitis.

Most people now understand the importance of LDL, the bad cholesterol and HDL, the good cholesterol, to their overall health. But high triglycerides are like the Rodney Dangerfield of the lipid world: they get less respect and notoriety compared to their cholesterol cousins. Doctors are often uncertain about how best to treat patients with this condition. Understanding the genes that make patients susceptible to HTG could provide clues to newer, better treatments.

In a new study published online in Nature Genetics, Dr. Robert Hegele of the Robarts Research Institute, Schulich School of Medicine & Dentistry at The University of Western Ontario (London, Canada) has shown that it's a combination of both common and rare variants or 'misprints' in several genes that add up and put a patient at risk of developing HTG. Working with graduate student Christopher Johansen, Dr. Hegele used two different methods to uncover the complex genetic basis of HTG in more than 500 patients.

First, using DNA microarrays (also called gene chips) the researchers found that commonplace variants in four different genes are strongly related to having HTG. Next, using detailed DNA sequence analysis, they found that patients with HTG also had an excess of rare variants - ones only found in one or two people – in these same four genes. Cumulatively, the rare variants were found in 28 per cent of HTG patients, about twice the rate seen in healthy controls.

"This is one of the first studies that combined gene chips with DNA sequencing to examine the genomes of patients", explains Dr. Hegele, an endocrinologist and professor in the Departments of Biochemistry and Medicine at Western. "It was fortunate that we used both methods. Gene chip studies are popular nowadays and are effective at finding relationships between common genetic variants and disease. But gene chips cannot detect rare variants. For that, you need to do the more expensive and time-consuming method of DNA sequencing."

Scientists have long suspected that both common and rare genetic variants contribute to many diseases, but the study from the Robarts group now definitively shows that this is the case.

"It's also instructive that one single gene is not solely responsible for high triglyceride levels but rather a mosaic of both common and rare variations in several genes." Dr. Hegele adds that these rare variants now help explain the missing heritability of lipid traits. "It means that to get a full picture of a patient's genetic risk, you need to consider both common and rare variants in many genes simultaneously, and to use methods that will detect both types of variation."

The research was supported by Genome Canada through the Ontario Genomics Institute, the Canadian Institutes of Health Research, and the Heart and Stroke Foundation of Ontario. Dr. Hegele holds the Edith Schulich Vinet Canada Research Chair in Human Genetics, the Jacob J. Wolfe Distinguished Medical Research Chair and the Martha G. Blackburn Chair in Cardiovascular Research. He is also the Director of the London Regional Genomics Centre.

Kathy Wallis | EurekAlert!
Further information:
http://www.uwo.ca

More articles from Life Sciences:

nachricht A novel socio-ecological approach helps identifying suitable wolf habitats
17.02.2017 | Universität Zürich

nachricht New, ultra-flexible probes form reliable, scar-free integration with the brain
16.02.2017 | University of Texas at Austin

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Biocompatible 3-D tracking system has potential to improve robot-assisted surgery

17.02.2017 | Medical Engineering

Real-time MRI analysis powered by supercomputers

17.02.2017 | Medical Engineering

Antibiotic effective against drug-resistant bacteria in pediatric skin infections

17.02.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>