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Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

ABSTRACT: Statistical analysis of genomic screening and fine mapping data.The goals of this study were to analyze a region on chromosome 17 and to identify specific genetic determinants within this region linked to familial idiopathic scoliosis (FIS) in a subgroup of families in which affected males have undergone surgery.The high prevalence and variability of FIS is indicative of genetic heterogeneity. To localize genes related to scoliosis, identification of groups of families with common clinical characteristics is a strategy that reduces genetic heterogeneity. Two independent studies have implicated a region on chromosome 17 as related to FIS.With approval of the Institutional Review Board, the initial study population consisted of 202 families (1198 individuals), each of which had 2 or more affected individuals; 17 of those families had an affected male who had surgery. Individuals underwent genomic screening and subsequent fine mapping. Results were obtained using model-independent linkage analysis, with scoliosis set as a qualitative and as a quantitative trait, as implemented in SIBPAL (S.A.G.E., v4.5). The level of significance was set at P < or = 0.05.The initial study population had significant results at markers d17s975 and d17s2196. Analyses of a subgroup of families with males having undergone surgery using a customized single nucleotide polymorphism panel resulted in increased significance of this region.The data confirm a previously reported genetic locus on chromosome 17 as statistically significant in the etiology of FIS within a subgroup of families in which an affected male had spinal surgery.

SUBMITTER: Clough M

PROVIDER: S-EPMC2808704 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature

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Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

Clough Mark M Justice Cristina M CM Marosy Beth B Miller Nancy H NH

Spine 20100101 2

<h4>Study design</h4>Statistical analysis of genomic screening and fine mapping data.<h4>Objective</h4>The goals of this study were to analyze a region on chromosome 17 and to identify specific genetic determinants within this region linked to familial idiopathic scoliosis (FIS) in a subgroup of families in which affected males have undergone surgery.<h4>Summary of background data</h4>The high prevalence and variability of FIS is indicative of genetic heterogeneity. To localize genes related to ...[more]

PMID: 20081511

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Project description:BackgroundIdiopathic scoliosis is the most common spinal deformity in children. Treatment strategies aim to halt progression of the curve. Mild scoliosis is in many cases observed or, in some cases, treated with scoliosis-specific exercises. More severe curves are treated mainly with a brace. The aim of this study is to investigate the effectiveness of scoliosis-specific exercises compared to observation in adolescents with mild idiopathic scoliosis.MethodsSubjects. Previously untreated and skeletally immature children aged 9-15 years of age with idiopathic scoliosis (curve magnitude Cobb 15-24 degrees) will be included. A total of 90 subjects will be included to receive one of two possible interventions. Interventions. Both groups will receive a physical activity prescription according to the World Health Organization recommendations. The intervention group will receive an additional active self-correction treatment strategy for curve correction and will have outpatient sessions once every two weeks for the first three months. They will be prescribed to do the exercises at least three times per week. The intervention will be performed until skeletal maturity or progression of the curve. Outcome. The subjects will participate in the study until curve progression or until skeletal maturity (defined as less than 1 cm growth for six months). The primary outcome variable is failure of treatment, defined as progression of the Cobb angle more than 6 degrees on two consecutive x-rays compared to the baseline x-ray. Secondary outcome measures include patient-reported outcomes, clinical characteristics (i.e. angle of trunk rotation and trunk asymmetry) and number requiring brace treatment. Clinical follow-ups will be performed every six months and radiographs will be taken annually.DiscussionThis study will compare effectiveness of an active self-corrective exercise strategy in mild idiopathic scoliosis with observation in terms of halting curve progression.

Dataset Information

Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

Publications

Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

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