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Gene Chip, Invented by Children's Hospital of Philadelphia Scientist, Pinpoints New Target to Prevent Heart Disease
Date:3/14/2012

>, by the IL6R Genetics Consortium and Emerging Risk Factors Collaboration, found that a genetic variant in the IL6R gene, which carries the code for the IL6R protein, dials down inflammation and thus lowers the risk of heart disease.

The study in which Keating participated focused on SNPs (single nucleotide polymorphisms) single-base changes in the IL6R gene that codes for the IL6R protein.

Among the research team's tools was a DNA array, the IBC Human CVD BeadChip, also called the Cardiochip, created by Keating in 2006 and since used in many large gene studies. That chip contains DNA markers for 2000 gene variants implicated in cardiovascular disease. When brought into contact with test samples of DNA from research participants, the chip detects specific SNPs in the sample —gene variants that may affect biological functions and risks of heart disease among the participants.

They found that one SNP, the gene variant rs8192284, altered several biological markers associated with inflammation. Those results were similar to those found in trials of tocilizumab, an anti-inflammatory drug currently used to treat rheumatoid arthritis. By inhibiting the action of IL6R, this drug reduces the painful inflammation common in rheumatoid arthritis.

Further analysis of data from CHD patients and controls showed that subjects carrying the gene variant had a lower risk of CHD. "What this tells us is that IL6R blockers such as tocilizumab mimic the benefits of having this gene variant," said Keating. "A next step will be for cardiology researchers to design and carry out clinical trials to determine whether tocilizumab or similar anti-inflammatory drugs will prevent heart 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. A senior investigator from The Children's Hospital of Phil
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SOURCE The Children's Hospital of Philadelphia
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