Identification of susceptibility loci for scoliosis in FIS families with triple curves.
Identification of susceptibility loci for scoliosis in FIS families with triple curves.
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DOI：
10.1002/ajmg.a.33222
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发表时间：
2010-04
影响因子：
2
通讯作者：
Miller, Nancy H.
中科院分区：
文献类型：
--
作者：
Marosy, Beth;Justice, Cristina M.;Vu, Cuong;Zorn, Andrew;Nzegwu, Nneka;Wilson, Alexander F.;Miller, Nancy H.
三重曲线模式（三个相同严重程度的侧弯）已被认为是脊柱侧凸的一个独特的临床亚型。作为家族性特发性脊柱侧凸（FIS）大型研究的一部分，对具有三重曲线模式的五个家族的子集（每个家族至少有一个成员具有三重曲线）进行了评估，以确定该曲线模式是否与先前基因分型的任何标记相关联，这是基于strp的先前连锁筛选的一部分。初始基因组筛选模型独立连锁分析（SIBPAL, v4.5）在FIS作为定性和定量性状进行单点和多点连锁分析时，确定了6号和10号染色体上的候选区域。对该亚群snp的进一步精细定位分析证实了这些地区的发现（P <0.001）。这些区域以前与FIS有关，然而，这是第一次在临床明确的亚组中涉及这些区域，并可能提示形成三重曲线的独特遗传病因。
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.
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