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First Common Gene That Raises Congenital Heart Disease Risk Found
Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the genes that give rise to it. Now genetics and cardiology researchers have discovered it.
"This gene, ISL1, plays a key role in regulating early cardiac development, so there is a compelling biological reason for investigating it as a genetic risk factor for CHD," said study leader Peter J. Gruber, M.D., Ph.D., a cardiothoracic surgeon and developmental biologist at The Children's Hospital of Philadelphia. Gruber collaborated with his brother, Stephen B. Gruber, M.D., Ph.D., a geneticist and epidemiologist at the University of Michigan Medical School.
The study appeared online today in the journal PLoS ONE.
CHD ranges widely in severity, from tiny holes between heart chambers that close naturally, to life-threatening abnormal structures such as hypoplastic left-heart syndrome that require a series of complicated surgeries.
CHD can affect a variety of different structures in the heart, but the researchers decided to focus on the earliest period of the organ's development. "Instead of assuming separate genes would govern each specific defect, we formed the hypothesis that a common gene variant operates early in the biological pathway of heart formation, thus affecting multiple subtypes of congenital heart disease," said Peter Gruber.
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