Abstract
Although previous lnks have been made between congenital heart disease (CHD) and scoliosis, the molecular mechanisms involved in this association are poorly understood. During development, it appears that embryos exhibiting spine deformations resulting in scoliosis also suffer from an array of cardiac defects. Additionally, idiopathic scoliosis in patients with CHD is thought to be a response to a physiological phenomenon such as an enlarged size or abnormal thrust of the heart. Despite the fact that molecular omics data have been accumulated that are relevant to these two independent phenotypes, there appears to be a gap in the literature of over two decades on this matter and no clear correlations of the omics data have been provided. To identify genes involved in CHD and scoliosis, we have performed an analysis of genomic annotations, functional genomics data and text mining, and derived an inferred network of 123 human genes and 175 known gene interactions. Of these, 20 genes are unique to CHD, 11 to scoliosis and 5 genes are common to both abnormalities. These genes are known to be involved in molecular signaling cascades that affect the development of the musculo-skeletal system in humans and have been associated with disorders such as the Marfan or CHARGE syndromes. Our analysis sets the basis upon which investigations of this association can be performed at the molecular level, in order to both further understand the pathology and, in the future, develop suitable therapies for CHD/idiopathic scoliosis patients
Correspondence should be addressed to Anastasia C. Tilentzoglou MD, General Secretary of the Board of Directors of HAOST, 20 A. Fleming Str. (N.Filothei), Gr. 15123 Maroussi, Athens Greece. E-mail: info@eexot.gr
