Abstract
Adolescent Idiopathic Scoliosis (AIS) is a prevalent and important spine disorder in the pediatric age group. An increased family tendency was observed for a long time, but the underlying genetic mechanism was uncertain. In 1999, Dr. Yves Cotrel founded the Cotrel Foundation in the Institut de France, which supported collaboration of international researchers to work together to better understand the etiology of AIS. This new concept of AIS as a complex trait evolved in this setting among researchers who joined the annual Cotrel meetings. It is now over a decade since the first proposal of the complex trait genetic model for AIS. Here, we review in detail the vast information about the genetic and environmental factors in AIS pathogenesis gathered to date. More importantly, new insights into AIS etiology were brought to us through new research data under the perspective of a complex trait. Hopefully, future research directions may lead to better management of AIS, which has a tremendous impact on affected adolescents in terms of both physical growth and psychological development.
Highlights
Candidate genetic loci, the familial aggregation pattern is not fully understood, and few highly confident causative genes were identified
Adolescent Idiopathic Scoliosis (AIS) Was First Considered as a Complex Trait Genetic susceptibility for AIS is confusing and its inheritance mechanism is uncertain, it is widely accepted that the complex trait fits well with AIS
With reference to these concepts, we hypothesized that genetic susceptibility for AIS potentially operates in two forms: (a) rare familial scoliosis due to single gene defects, and (b) low penetrance genetic variants acting collectively accounting for genetic predisposition in the majority of “sporadic AIS”
Summary
There was a concern that a specific value of heritability was not yet determined for AIS [4,12,13]. Heritability for AIS was estimated to be 87.5%, which was comparable to that of body height These results support the prevailing impression of a strong genetic liability for development of AIS [13]. The final phenotype outcome might represent an integration of both genetic and environmental (including lifestyle) factors This was the first report of the standard genetic aggregation parameters for sibling recurrent risk and heritability of AIS in the Chinese population. The findings confirm that AIS has a surprisingly strong genetic predisposition which is comparable to that of other common diseases or complex traits Such a high level of heritability was later confirmed in Caucasian AIS patients who were recruited among those with more severe disease (higher Cobb angle or received surgery) [16,17]. A high level of heritability was found by different methodology [13,15], the exact contribution of the shared environmental factors in relation to the heritability of AIS liability is difficult to determine
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