The Search for Idiopathic Scoliosis Genes
- 1 March 2006
- journal article
- Published by Ovid Technologies (Wolters Kluwer Health) in Spine
- Vol. 31 (6), 679-681
- https://doi.org/10.1097/01.brs.0000202527.25356.90
Abstract
A cohort of 145 patients with adolescent idiopathic scoliosis (AIS) were identified and contacted to determine whether they had a family history of scoliosis. These results were submitted to an internal genealogical database to screen for potential connections to other AIS families. The severity and incidence of AIS in extended family groups were also analyzed. Our objectives were to quantify the genetic effect in AIS, determine the expressivity and penetrance of AIS in large family groupings, and examine larger scoliosis pedigrees for evidence of multiple genes. Previous reports have suggested an 80% connectedness among scoliosis families, but no clear evidence of multiple genes. It is not known if there are major gene(s). A cohort of 145 AIS probands were identified and contacted to ascertain whether they had a family history of AIS. Their medical records and spine radiographs were reviewed to confirm the diagnosis and determine the disease severity. Using an internal genealogical database, the cases were screened for potential connections that would produce larger extended pedigrees. Overall, 131 of the probands were in the database and 127 showed connections to other scoliosis families, a 97% connectedness. These results suggest a major scoliosis gene, as more than 50% of the probands were connected by founders that all resided in England in the mid 1500s. The differences in penetrance (41% vs. 34%) and expressivity (38% vs. 61%) between seemingly unrelated large family groupings might suggest that two different genes are a major influence for AIS in these families. Nearly all (97%) AIS patients have familial origins. There appears to be at least one major gene, and the differences in penetrance and expressivity in two large unconnected pedigrees might suggest the presence of more than one gene.Keywords
This publication has 7 references indexed in Scilit:
- A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3American Journal of Human Genetics, 2002
- The inheritance of rheumatoid arthritis in IcelandArthritis & Rheumatism, 2001
- Localization of Susceptibility to Familial Idiopathic ScoliosisSpine, 2000
- Scoliosis in TwinsSpine, 1997
- ScoliosisThe Journal of Bone & Joint Surgery, 1978
- Genetic Aspects of Idiopathic ScoliosisClinical Orthopaedics and Related Research, 1972
- FAMILIAL (IDIOPATHIC) SCOLIOSISThe Journal of Bone and Joint Surgery. British volume, 1968