Males With Familial Idiopathic Scoliosis A Distinct Phenotypic Subgroup
Males With Familial Idiopathic Scoliosis A Distinct Phenotypic Subgroup
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DOI：
10.1097/brs.0b013e3181b7f1a7
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发表时间：
2010-01-15
期刊：
影响因子：
3
通讯作者：
Miller, Nancy H.
中科院分区：
文献类型：
--
作者：
Clough, Mark;Justice, Cristina M.;Miller, Nancy H.
研究设计.基因组筛选和精细定位数据的统计分析。本研究的目的是分析17号染色体上的一个区域，并确定该区域内与家族性特发性脊柱侧凸（FIS）相关的特定遗传决定因素，这些家族中受影响的男性接受了手术。FIS的高患病率和变异性表明遗传异质性。为了定位脊柱侧凸相关基因，识别具有共同临床特征的家族组是减少遗传异质性的一种策略。两项独立的研究表明，17号染色体上的一个区域与FIS有关。经机构审查委员会批准，初始研究人群包括202个家庭（1198人），每个家庭有2名或更多受影响的个体;其中17个家庭有一名受影响的男性接受了手术。个体进行基因组筛选和随后的精细定位。结果使用模型独立的连锁分析获得，脊柱侧凸设置为定性和定量性状，如SIBPAL（S.A.G.E.，v4.5）。显著性水平设为P
Study Design. Statistical analysis of genomic screening and fine mapping data.Objective. 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.Summary of Background Data. 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.Methods. 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