Jian Wei-Xia, Long Ji-Rong, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha Hunan, P.R. China.
Osteoporosis Research Center and Department of Biomedical Sciences, Suite 6787, Creighton University, 601 N. 30th St., Omaha, NE 68131, USA.
J Hum Genet. 2004;49(2):87-91. doi: 10.1007/s10038-003-0113-4. Epub 2004 Jan 15.
Bone size, an independent determinant of bone strength, is an important risk factor for osteoporotic fracture. In the present study, we investigated the magnitude of the genetic determination of bone size at the spine and hip and their genetic covariation (if any) in a population of Chinese residing in Shanghai City of P.R. China. The subjects were 50 healthy full-sib pairs of females, 188 mother-daughter pairs, and 128 husband-wife pairs selected from 401 nuclear families. Bone size (centimeters squared) was measured at the spine and hip by dual-energy X-ray absorptiometry (DEXA). The narrow-sense heritabilities h2 (SE) of bone size at the spine and hip were 0.63 (0.14) and 0.45 (0.14) respectively when estimated by full-sib pairs, and 0.60 (0.07) and 0.69 (0.07) respectively when estimated by mother-daughter pairs. Marginally significant genetic correlation was observed between the spine and hip bone size. The significantly and moderately high h2 values for bone size demonstrated in this study warrant a subsequent genetic study to search for the genes or genomic regions underlying the phenotype in Chinese.
骨大小作为骨强度的一个独立决定因素，是骨质疏松性骨折的一个重要风险因素。在本研究中，我们调查了居住在中国上海市的一群中国人中，脊柱和髋部骨大小的遗传决定程度及其遗传协变（如果有的话）。研究对象是从401个核心家庭中选取的50对健康的女性全同胞、188对母女以及128对夫妻。通过双能X线吸收法（DEXA）测量脊柱和髋部的骨大小（平方厘米）。当用全同胞对估计时，脊柱和髋部骨大小的狭义遗传力h2（标准误）分别为0.63（0.14）和0.45（0.14）；当用母女对估计时，分别为0.60（0.07）和0.69（0.07）。在脊柱和髋部骨大小之间观察到边缘显著的遗传相关性。本研究中显示的骨大小显著且中等偏高的h2值，使得后续有必要进行基因研究，以寻找中国人中该表型背后的基因或基因组区域。
