Identification of susceptibility loci for scoliosis in FIS families with triple curves.
The triple curve pattern (three lateral curvatures of equal severity) has been recognized as a distinct and unique clinical subtype of scoliosis. As part of a large study of familial idiopathic scoliosis (FIS), a subset of five families with a triple curve pattern (at least one member of each family having a triple curve) was evaluated to determine if this curve pattern was linked to any of the markers previously genotyped as part of the STRP-based previous linkage screen. Model independent linkage analysis (SIBPAL, v4.5) of the initial genomic screen identified candidate regions on chromosomes 6 and 10 when FIS was analyzed both as qualitative and quantitative traits in single- and multipoint linkage analyses. Additional fine mapping analyses of this subgroup with SNPs corroborated the findings in these regions (P < 0.001). These regions have been previously linked to FIS, however, this is the first time these regions have been implicated in a clinically well-defined subgroup and may suggest a unique genetic etiology for the formation of a triple curve.
Marosy
Beth
B
Department of Orthopaedic Surgery, Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Justice
Cristina M
CM
Vu
Cuong
C
Zorn
Andrew
A
Nzegwu
Nneka
N
Wilson
Alexander F
AF
Miller
Nancy H
NH
D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005190:Family; D008040:Genetic Linkage; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008957:Models, Genetic; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging
D005819:Genetic Markers