Lei Shufeng, Deng Feiyan, Xiao Peng, Zhong Kai, Deng Hongyi, Recker Robert R, Deng Hongwen
Hunan Normal University, Changsha, China.
J Genet Genomics. 2009 Feb;36(2):89-97. doi: 10.1016/S1673-8527(08)60095-8.
To quantify the genetic correlations between total body fat mass (TBFM) and femoral neck geometric parameters (FNGPs) and, if possible, to detect the specific genomic regions shared by them, bivariate genetic analysis and bivariate whole-genome linkage scan were carried out in a large Caucasian population. All the phenotypes studied were significantly controlled by genetic factors (P < 0.001) with the heritabilities ranging from 0.45 to 0.68. Significantly genetic correlations were found between TBFM and CSA (cross-section area), W (sub-periosteal diameter), Z (section modulus) and CT (cortical thickness) except between TBFM and BR (buckling ratio). The peak bivariate LOD scores were 3.23 (20q12), 2.47 (20p11), 3.19 (6q27), 1.68 (20p12), and 2.47 (7q11) for the five pairs of TBFM and BR, CSA, CT, W, and Z in the entire sample, respectively. Gender-specific bivariate linkage evidences were also found for the five pairs. 6p25 had complete pleiotropic effects on the variations of TBFM & Z in the female sub-population, and 6q27 and 17q11 had coincident linkages for TBFM & CSA and TBFM & Z in the entire population. We identified moderate genetic correlations and several shared genomic regions between TBFM and FNGPs in a large Caucasian population.
为了量化全身脂肪量(TBFM)与股骨颈几何参数(FNGPs)之间的遗传相关性,并在可能的情况下检测它们共享的特定基因组区域,我们在一个大型白种人群体中进行了双变量遗传分析和双变量全基因组连锁扫描。所有研究的表型均受遗传因素显著控制(P < 0.001),遗传率范围为0.45至0.68。除了TBFM与BR(屈曲比)之间外,在TBFM与CSA(横截面积)、W(骨膜下直径)、Z(截面模量)和CT(皮质厚度)之间发现了显著的遗传相关性。在整个样本中,TBFM与BR、CSA、CT、W和Z这五对的双变量LOD得分峰值分别为3.23(20q12)、2.47(20p11)、3.19(6q27)、1.68(20p12)和2.47(7q11)。这五对也发现了性别特异性的双变量连锁证据。在女性亚群体中,6p25对TBFM和Z的变异具有完全的多效性影响,在整个群体中,6q27和17q11对TBFM和CSA以及TBFM和Z具有一致的连锁关系。我们在一个大型白种人群体中确定了TBFM与FNGPs之间适度的遗传相关性和几个共享的基因组区域。