Abstract
Adolescent idiopathic scoliosis is known to aggregate within families; however, the pattern of inherited susceptibility is unclear. A genomic screen and statistical linkage analysis of a genetic isolate including individuals with idiopathic scoliosis is being performed to identify variants responsible for this disease.
Scoliosis does not demonstrate a characteristic pattern of classical genetic (inherited) disorders. The severity of the disease within families can change and sometimes generations are skipped. However, the role of hereditary or genetic factors in the development of this condition is widely accepted. Numerous investigators are currently attempting to locate these genes. Studies based on a wide variety of populations have suggested an autosomal dominant mode of inheritance or sex-linked inheritance pattern. Other authors state that the “genetics link” may be complex, with an interaction of several genes rather than just one.
To identify chromosomal loci encoding genes involved in susceptibility to idiopathic scoliosis and the trasmission way of scoliosis we are studing a genetic isolate. We have generated a 10,600 individual pedigree of the village of Campora, in the Cilento area, starting from the beginning of the 17th century connecting all the 1200 living inhabitants. The actual population of Campora derives from a few founders; therefore, the living inhabitants are all related to each other. The population will undergo clinical and radiographic evaluation for the presence and degree of scoliosis. A genomic screen and statistical linkage analysis of the families with individuals having idiopathic scoliosis will be performed. With this approach we can identify variants responsible for this complex disease and genetic links of scoliosis.
