First Common Gene Found for Congenital Heart Disease
Peter J. Gruber, MD, PhD, Division of Cardiothoracic Surgery, has advanced the understanding of the genetic causes of congenital heart disease (CHD) – the most common major birth defect – by leading the first collaboration to discover a common genetic variant that strongly raises the risk of CHD. Dr. Gruber’s previous research found that a gene on chromosome 5 called ISL1 was crucial in regulating the development of human cardiac stem cells. In the current study, published in the journal Public Library of Science One, Dr. Gruber’s team investigated ISL1’s involvement in CHD during the earliest period of the heart’s development using DNA from 1,344 children with CHD and 6,135 healthy children. The team found seven gene variants in or near the ISL1 gene that raised the risk of CHD. The variants were alternative spellings in DNA bases called single nucleotide polymorphisms, or SNPs. Further analysis found that one SNP raised the risk for white children, and a different SNP in the same gene increased the risk for African-American children.