Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated the Sixth People's Hospital, China.
Acta Pharmacol Sin. 2012 May;33(5):660-7. doi: 10.1038/aps.2012.12. Epub 2012 Mar 19.
Myostatin gene is a member of the transforming growth factor-β (TGF-β) family that negatively regulates skeletal muscle growth. Genetic polymorphisms in Myostatin were found to be associated with the peak bone mineral density (BMD) in Chinese women. The purpose of this study was to investigate whether myostatin played a role in the normal variation in peak BMD, lean mass (LM), and fat mass (FM) of Chinese men.
Four hundred male-offspring nuclear families of Chinese Han ethnic group were recruited. Anthropometric measurements, including the peak BMD, body LM and FM were measured using dual-energy X-ray absorptiometry (DXA). The single nucleotide polymorphisms (SNPs) studied were tag-SNPs selected by sequencing. Both rs2293284 and +2278GA were genotyped using TaqMan assay, and rs3791783 was genotyped with PCR-restriction fragment length polymorphism (RFLP) analysis. The associations of the SNPs with anthropometric variations were analyzed using the quantitative transmission disequilibrium test (QTDT).
Using QTDT to detect within-family associations, neither single SNP nor haplotype was found to be associated with peak BMD at any bone site. However, rs3791783 was found to be significantly associated with fat mass of the trunk (P<0.001). Moreover, for within-family associations, haplotypes AGG, AAA, and TGG were found to be significantly associated with the trunk fat mass (all P<0.001).
Our results suggest that genetic variation within myostatin may play a role in regulating the variation in fat mass in Chinese males. Additionally, the myostatin gene may be a candidate that determines body fat mass in Chinese men.
肌肉生长抑制素基因是转化生长因子-β（TGF-β）家族的一个成员，它负调控骨骼肌生长。肌肉生长抑制素中的遗传多态性与中国女性的峰值骨密度（BMD）有关。本研究旨在探讨肌肉生长抑制素是否在中国人男性的峰值 BMD、瘦体重（LM）和体脂肪量（FM）的正常变化中发挥作用。
本研究招募了 400 个汉族男性后裔核家族。采用双能 X 射线吸收法（DXA）测量人体峰值 BMD、LM 和 FM 等人体指标。研究中使用的单核苷酸多态性（SNP）是通过测序选择的标签 SNP。rs2293284 和 +2278GA 采用 TaqMan 检测进行基因分型，rs3791783 采用 PCR-限制性片段长度多态性（RFLP）分析进行基因分型。采用定量传递不平衡检验（QTDT）分析 SNP 与人体测量学变化的相关性。
使用 QTDT 检测家系内的相关性，未发现单个 SNP 或单倍型与任何骨骼部位的峰值 BMD 相关。然而，rs3791783 与躯干脂肪量显著相关（P<0.001）。此外，对于家系内的相关性，AGG、AAA 和 TGG 单倍型与躯干脂肪量显著相关（均 P<0.001）。
我们的研究结果表明，肌肉生长抑制素中的遗传变异可能在调节中国人男性的体脂肪量变化中起作用。此外，肌肉生长抑制素基因可能是决定中国男性体脂肪量的候选基因。
