Large international study finds 21 genes tied to cholesterol levels

CHOP scientist's gene chip used to expand list of possible drug targets to lower lipid-related health risks

2012-10-11

(Press-News.org) In the largest-ever genetic study of cholesterol and other blood lipids, an international consortium has identified 21 new gene variants associated with risks of heart disease and metabolic disorders. The findings expand the list of potential targets for drugs and other treatments for lipid-related cardiovascular disease, a leading global cause of death and disability.

The International IBC Lipid Genetics Consortium used the Cardiochip, a gene analysis tool invented by Brendan J. Keating, Ph.D., a scientist at the Center for Applied Genomics at The Children's Hospital of Philadelphia. Since its creation in 2006, researchers have used the Cardiochip to pinpoint gene variants in dozens of studies. The device contains approximately 50,000 DNA markers across 2000 genes implicated in cardiovascular disease.

Keating and Fotios Drenos, Ph.D., of University College London, are senior authors of the current study, published today in the American Journal of Human Genetics.

Comprising over 180 researchers worldwide, the consortium analyzed genetic data from over 90,000 individuals of European ancestry. First the researchers used the Cardiochip in a discovery dataset of over 65,000 individuals from 32 previous studies. They then sought independent replication in other studies covering over 25,000 individuals, as well as in a previously reported study of 100,000 individuals.

From this meta-analysis, the consortium identified 21 novel genes associated with levels of low-density lipoproteins (LDL, or "bad cholesterol"), high-density lipoproteins (HDL, "good cholesterol"), total cholesterol (TC), and triglycerides (TG), as well as verifying 49 known signals. The researchers also found that some of the strongest signals appeared to be gender-specific—some variants were more likely to appear in men, others in women.

Keating said, "To date, this is the largest number of DNA samples ever used in a study for lipid traits, it clearly shows the value of using broad-ranging global scientific collaborations to yield new gene signals."

Drenos added, "While each of the genetic variants has a small effect on the specific lipid trait, their cumulative effect can significantly add up to put people at risk for disease." He continued, "This study underscores how international sharing of resources and datasets paves the way for robust, continuing discoveries of new and unexpected information from human genetic studies."

Keating and Drenos coordinated efforts among four main data coordinating sites: the Center for Applied Genomics at The Children's Hospital of Philadelphia; the Institute of Cardiovascular Sciences at University College London; AMC, Amsterdam; and the Department of Cardiology at the University Medical Center, Utrecht.

The consortium is following this published work with a project to identify which of the loci reported directly cause disease, and how this knowledge can help in the development of novel drugs. The consortium will also devote its significant pooled resources to identifying interactions among genetic polymorphisms (single-base variations in DNA) and biological markers of downstream cardiovascular disease.

Lead author Folkert Asselbergs, M.D., Ph.D., of University Medical Center, Utrecht, added, "Next to already established drug targets such as the LDL receptor and PCSK9, the current study identified 21 potential new targets for drug development that may be beneficial for the treatment of dyslipidaemia in the future. Our team of researchers are now initiating additional studies to investigate the impact of the found genes on cardiovascular disease."

###More than 30 organizations and agencies funded this study, including the U.K. Medical Research Council, the British Heart Foundation, the National Institutes of Health and the Wellcome Trust. In addition to his position at The Children's Hospital of Philadelphia, Keating also is on the faculty of the Perelman School of Medicine at the University of Pennsylvania.

"Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci," American Journal of Human Genetics, published Oct. 11, 2012.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu

ELSE PRESS RELEASES FROM THIS DATE:

Feeding the Schwanns: New technique could bring cell therapy for nerve damage a step closer

2012-10-11

A new way to grow cells vital for nerve repair, developed by researchers from the University of Sheffield, could be a vital step for use in patients with severe nerve damage, including spinal injury (1). Schwann cells are known to boost and amplify nerve growth in animal models, but their clinical use has been held back because they are difficult, time-consuming and costly to culture. The Sheffield team, led by Professor John Haycock, has developed a new technique with adult rat tissue which overcomes all these problems, producing Schwann cells in less than half the time ...

New tool determines leukemia cells' 'readiness to die,' may guide clinical care

2012-10-11

Researchers at Dana-Farber Cancer Institute have developed a novel method for determining how ready acute myeloid leukemia (AML) cells are to die, a discovery that may help cancer specialists to choose treatments option more effectively for their patients who have AML. In a study published in the Oct. 12 issue of the journal Cell, the researchers report that their findings may lead to improved tests to predict which patients successfully treated for AML can continue in remission with standard chemotherapy alone, and which patients are likely to relapse despite ...

Nearby super-Earth likely a diamond planet

2012-10-11

New Haven, Conn. — New research led by Yale University scientists suggests that a rocky planet twice Earth's size orbiting a nearby star is a diamond planet. "This is our first glimpse of a rocky world with a fundamentally different chemistry from Earth," said lead researcher Nikku Madhusudhan, a Yale postdoctoral researcher in physics and astronomy. "The surface of this planet is likely covered in graphite and diamond rather than water and granite." The paper reporting the findings has been accepted for publication in the journal Astrophysical Journal Letters. The ...

A new cave-dwelling reef coral discovered in the Indo-Pacific

2012-10-11

Coral specialist Dr. Bert W. Hoeksema of Naturalis Biodiversity Center in Leiden, The Netherlands, recently published the description of a new coral species that lives on the ceilings of caves in Indo-Pacific coral reefs. It differs from its closest relatives by its small polyp size and by the absence of symbiotic algae, so-called zooxanthellae. Its distribution range overlaps with the Coral Triangle, an area that is famous for its high marine species richness. Marine zoologists of Naturalis visit this area frequently to explore its marine biodiversity. Reef corals in ...

How food marketers can help consumers eat better while improving their bottom line

2012-10-11

Food marketers are masters at getting people to crave and consume the foods that they promote. In this study authors Dr. Brian Wansink, co-director of the Cornell University Center for Behavioral Economics in Child Nutrition and Professor of Marketing and Dr. Pierre Chandon, professor of Marketing at the leading French graduate school of business, INSEAD challenge popular assumptions that link food marketing and obesity. Their findings presented last weekend at the Association for Consumer Research Conference in Vancouver, Canada point to ways in which smart food marketers ...

Research gives new insight into celiac disease

2012-10-11

For the first time, scientists have visualised an interaction between gluten and T-cells of the immune system, providing insight into how coeliac disease, which affects approximately 1 in 133 people, is triggered. Published today in Immunity, the discovery was led by Dr Hugh Reid and Professor Jamie Rossjohn of Monash University, Professor Frits Koning of the University of Leiden and Dr Bob Anderson of biotechnology company ImmusanT Inc, based in the US. An increasingly diagnosed chronic inflammatory disorder, coeliac disease affects the digestive process of the small ...

All healthcare professionals need training to deal with the sexual needs of patients

2012-10-11

Providing healthcare staff with a one-day training course on dealing with the sexual needs of people with an acquired physical disability gave them greater understanding of the issues patients faced and enabled them to address intimate questions more comfortably and proactively. The findings were so encouraging that the authors of the study, published in the November issue of the Journal of Advanced Nursing, are calling for all healthcare practitioners to receive sexuality training, regardless of their role or the area of healthcare they work in. Researchers surveyed ...

Queen's develops new environmentally friendly MOF production method

2012-10-11

Chemists at Queen's University Belfast have devised a novel, environmentally friendly technique, which allows the rapid production of Metal-Organic Frameworks porous materials (MOFs). These revolutionary nanomaterials have the potential to transform hazardous gas storage, natural gas vehicles and drug delivery and have the highest surface-area of any known substance. A sugar-lump sized piece of MOF material can have the same surface area as a football pitch. Until now MOF manufacturing techniques have been limited as they are costly, slow and require large quantities ...

Research findings in solar cells will have an impact on solar panel industry

2012-10-11

University of Luxembourg's Laboratory for Photovoltaics has established a method to observe and prevent solar cell degradation before solar cell production is finished, which has implications for the solar cell manufacturing industry since chemical damage to solar cells can occur quickly. Solar panels are capable of converting light energy from the sun into electrical energy because they contain solar cells – the "power generators" responsible for the energy in solar panels. Thin film solar cells have a coating that is responsible for absorbing the sun's energy, but ...

DNA confirms genetically distinct lion population for Ethiopia

2012-10-11

A team of international researchers has provided the first comprehensive DNA evidence that the Addis Ababa lion in Ethiopia is genetically unique and is urging immediate conservation action to preserve this vulnerable lion population. While it has long been noted that some lions in Ethiopia have a large, dark mane, extending from the head, neck and chest to the belly, as well as being smaller and more compact than other lions, it was not known until now if these lions represent a genetically distinct population. The team of researchers, led by the University of York, ...

Large international study finds 21 genes tied to cholesterol levels

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: