Idiopathic scoliosis : Identification of candidate regions on chromosome 19p13

We performed genomic screening, statistical linkage analysis, and fine mapping of 202 families with at least 2 individuals with idiopathic scoliosis. To identify regions on chromosome 19p13 statistically linked to the phenotypic expression of idiopathic scoliosis. Idiopathic scoliosis is a common st...

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Bibliographic Details
Published in:Spine (Philadelphia, Pa. 1976) Pa. 1976), 2006-07, Vol.31 (16), p.1815-1819
Main Authors: ALDEN, Kris J, MAROSY, Beth, NZEGWU, Nneka, JUSTICE, Cristina M, WILSON, Alexander F, MILLER, Nancy H
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cerebrospinal fluid. Meninges. Spinal cord
Chromosome Mapping
Chromosomes, Human, Pair 19
Genetic Linkage
Genetic Markers
Genetic Testing
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Medical sciences
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Radiography
Scoliosis - diagnostic imaging
Scoliosis - genetics
Spine - diagnostic imaging
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Summary:We performed genomic screening, statistical linkage analysis, and fine mapping of 202 families with at least 2 individuals with idiopathic scoliosis. To identify regions on chromosome 19p13 statistically linked to the phenotypic expression of idiopathic scoliosis. Idiopathic scoliosis is a common structural curvature of the spine affecting otherwise healthy children. Presently, no clear consensus exists regarding the underlying abnormality or genetic determinants of this disease. Model-independent linkage analysis of qualitative and quantitative traits related to scoliosis was used to screen genotyping data from 391 markers in 202 families (1198 individuals). Subsets of families with probands having a curve > or = 30 degrees were dichotomized based on the most likely mode of inheritance for each family (autosomal dominant or X-linked dominant). Fine mapping was performed to show linkage to candidate regions on chromosome 19. When the threshold of disease was set at a curvature of > or = 30 degrees, qualitative linkage analysis revealed significant results at 2 successive markers on chromosome 19. The data confirm a previously reported genetic locus on chromosome 19 as potentially significant in the etiology of idiopathic scoliosis.
ISSN:0362-2436
1528-1159
DOI:10.1097/01.brs.0000227264.23603.dc