• February 7, 2013
  • New Statistical Tool May Help Detect Novel Genes Linked to Heart Disease, Penn Study Reports

PHILADELPHIA — Researchers at the Perelman School of Medicine at the University of Pennsylvania and the University of Massachusetts Amherst report in the latest edition of PLOS ONE utilizing a novel statistical tool to analyze existing large databases of genetic information to mine new information about genes that modulate low density lipoprotein (LDL) cholesterol and its downstream consequences, heart attack, stroke and death.  This new approach to analyzing existing data suggested a dozen new LDL cholesterol genes for analysis and provides opportunities for developing new treatments and advancing approaches to identifying those at greatest risk for heart disease.

The new analytical approach, called “mixed modeling of meta-analysis P-values” or MixMAP, offers new and complementary information as compared to single nucleotide polymorphism-based analysis approaches that have been used in past studies to identify novel genes linked to heart disease. The researchers say the tool is straightforward to implement and can be used with freely available computer software.  The approach may also be applied broadly to advance genetic knowledge of many other diseases.

“The MixMAP approach provides a significant advance by unlocking more information regarding the genetic basis of disease using existing large data and at little additional cost to the research community and funding agencies,” said Muredach P. Reilly, MBBCH, MSC, associate professor of Medicine at Penn and senior study author.  “For complex diseases such as heart attack and diabetes, this provides a real opportunity to generate substantial new knowledge and advance treatment and diagnostic opportunities."

For more information, please see the University of Massachusetts Amherst news release.


Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 17 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2013 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2013, Penn Medicine provided $814 million to benefit our community.



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