Bivariate whole genome linkage analyses for total body lean mass and BMD
Bivariate whole genome linkage analyses for total body lean mass and BMD
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DOI：
10.1359/jbmr.071033
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发表时间：
2008-03-01
影响因子：
6.2
通讯作者：
Deng, Hong-Wen
中科院分区：
文献类型：
--
作者：
Wang, Xiang-Li;Deng, Fei-Yan;Deng, Hong-Wen
在一个大的白色样本中对脊柱和髋部的TBLM和BMD进行全基因组双变量分析。在整个样本和性别亚组中发现了TBLM和BMD共有的一些QTL，并揭示了具有潜在多效性的QTL。引言：以往的研究表明，全身瘦体重（TBLM）和BMD具有高度的遗传相关性。材料和方法：为了确定TBLM和BMD在脊柱（L-1-L-4）和全髋关节上共有的特异性数量性状位点（QTL），我们对4498名欧洲血统的白色受试者进行了双变量全基因组连锁分析（WGLA）。对22个常染色体的多点双变量连锁分析显示，女性TBLM和脊柱BMD在染色体15 q13区域的LOD评分为4.86，和暗示性的关联发现（LOD > 2.2）在7 p22对于TBLM和整个样本的脊柱BMD，在7 q32对于TBLM和女性的脊柱和髋部的BMD，男性7 q21和13 p11的TBLM和脊柱及髋部的BMD。X染色体的两点连锁分析也显示在几个区域如Xq 25有显著的连锁信号。TBLM和BMD在7 q32和13 q11上具有完全的多效性（一个位点影响两个性状）。此外，完整的巧合连锁（单独的紧密聚集的位点，每个影响一个单一的性状）检测在7 p22 TBLM和脊柱BMD。结论：我们确定了几个基因组区域共享TBLM和BMD在白人。进一步的研究可能集中在精细定位和鉴定这些候选基因组区域的特定QTL。
A genome-wide bivariate analysis was conducted for TBLM and BMD at the spine and hip in a large white sample. We found some QTLs shared by TBLM and BMD in the entire sample and the sex-specific subgroups, and QTLs with potential pleiotropy were disclosed.Introduction: Previous studies suggested that total body lean mass (TBLM) and BMD are highly genetically correlated. However, the specific shared genetic factors between TBLM and BMD are unknown.Materials and Methods: To identify the specific quantitative trait loci (QTLs) shared by TBLM and BMD at the spine (L-1-L-4) and total hip, we performed bivariate whole genome linkage analysis (WGLA) in a large sample involving 4498 white subjects of European origin.Results: Multipoint bivariate linkage analyses for 22 autosomes showed evidence of significant linkage with an LOD score of 4.86 at chromosome region 15q13 for TBLM and spine BMD in women, and suggestive linkage findings (LOD > 2.2) at 7p22 for TBLM and spine BMD for the entire sample, at 7q32 for TBLM and BMD at both spine and hip in women, and at 7q21 and 13p11 for TBLM and BMD at both spine and hip in men. Two-point linkage analyses for chromosome X also showed significant linkage signals at several regions such as Xq25. Complete pleiotropy (a single locus influencing both traits) was suggested at 7q32 and 13q11 for TBLM and BMD. Additionally, complete co-incident linkage (separate tightly clustered loci each influencing a single trait) was detected at 7p22 for TBLM and spine BMD.Conclusions: We identified several genomic regions shared by TBLM and BMD in whites. Further studies may focus on fine mapping and identification of the specific QTLs in these candidate genomic regions.