STUDY DESIGN: We performed genomic screening, statistical linkage analysis, and fine mapping of 202 families with at least 2 individuals with idiopathic scoliosis. OBJECTIVE: To identify regions on chromosome 19p13 statistically linked to the phenotypic expression of idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: 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. METHODS: 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. RESULTS: 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. CONCLUSION: The data confirm a previously reported genetic locus on chromosome 19 as potentially significant in the etiology of idiopathic scoliosis.
STUDY DESIGN: We performed genomic screening, statistical linkage analysis, and fine mapping of 202 families with at least 2 individuals with idiopathic scoliosis. OBJECTIVE: To identify regions on chromosome 19p13 statistically linked to the phenotypic expression of idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: 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. METHODS: 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. RESULTS: 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. CONCLUSION: The data confirm a previously reported genetic locus on chromosome 19 as potentially significant in the etiology of idiopathic scoliosis.
Authors: Khaled Fendri; Shunmoogum A Patten; Gabriel N Kaufman; Charlotte Zaouter; Stefan Parent; Guy Grimard; Patrick Edery; Florina Moldovan Journal: Eur Spine J Date: 2013-03-07 Impact factor: 3.134
Authors: Zhijun Chen; Nelson L S Tang; Xingbin Cao; Di Qiao; Long Yi; Jack C Y Cheng; Yong Qiu Journal: Eur J Hum Genet Date: 2008-11-05 Impact factor: 4.246
Authors: Nancy H Miller; Cristina M Justice; Beth Marosy; Kandice Swindle; Yoonhee Kim; Marie-Hélène Roy-Gagnon; Heejong Sung; Dana Behneman; Kimberly F Doheny; Elizabeth Pugh; Alexander F Wilson Journal: Hum Hered Date: 2012-11-13 Impact factor: 0.444