gremlin1和DARC基因多态性与蒙古族少肌症遗传关联性研究

老年性骨骼肌减少症又称少肌症，是指随着年龄增长骨骼肌发生的萎缩和功能退行性变。对老年人的健康造成重大危害，是全球重要的公共卫生问题之一。基于少肌症及其相关数量性状肌量的遗传度很高的特点，申请人在中国人群和白种人群中完成了两个遗传关联研究，发现 gremlin1、DARC基因的变异对肌肉量具有重要的影响。在大陆地区对于少肌症流行病学和病理机制、临床研究十分罕见、尤其在内蒙古地区对此病的认识处于空白阶段。本研究采用CNV(拷贝数变异)做为遗传标记，采用候选基因关联方法对Gremlin1和DARC基因与蒙古族老年人群肌肉量和少肌症风险之间的关系进行研究，可望从遗传学角度确定这两个基因对少肌症的重要性，提示可能的功能突变，为其阐明发病机制及寻找干预靶点提供线索。为少肌症早期筛查和早期干预措施提供理论依据。本研究是内蒙古第一个少肌症相关研究，为我国少肌症提供参比数据，为公共卫生决策提供依据。

Age-related loss of skeletal muscle, also known as sarcopenia, is the atrophy and functional degeneration of skeletal muscle with age. It causes significant harm to the health of the elderly, being one of the world's major public health problems. Based on the high heritability of sarcopenia and its related quantitative trait muscle mass, the applicant have completed two genetic association studies in the Chinese population and the Caucasian population; found genetic variants in genes GREMLIN1 and DARC played a significant role in the development of sarcopenia. However, it is still rare to conduct epidemiological and pathological studies of sarcopenia in mainland China; in Inner Mongolia, it is indeed in the blank stage. In this application, we propose to study the genetic association between copy number variation (CNV) in GREMLIN1 and DARC and muscle mass and sacropenia risk in elderly Mongolian population. We expect to determine the importance of both genes to sacropenia from the genetic point of view, identify potential functional mutations and provide clues for its pathogenesis and for identifying intervention targets. Our study will provide a theoretical basis for early screening and clinical intervention of sacropenia. It is also the first genetic study of sacropenia in the Mongolian population, and will provide reference data for sarcopenia diagnosis and public health decision.