α-辅肌动蛋白3基因多态性与绝经后女性肌肉强度的相关性  

Association of α-actinin-3 gene polymorphism and muscle strength of postmenopausal women

作　　者：薛瑜 聂敏 王鸥 王春艳 韩桂艳[4] 沈蔷[5] 邓红月[5] 姜艳 李梅 夏维波 邢小平 徐苓 Xue Yu , Nie Min, Wang Ou, Wang Chunyan, Han Guiyan, Shen Qiang, Deng Hongyue, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaoping, Xu Ling.(Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science ＆ Peking Union Medical College, Beijing 100730, Chin)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生和计划生育委员会内分泌重点实验室,100730 [2]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生和计划生育委员会内分泌妇产科,100730 [3]航空总医院内分泌科 [4]承德医学院附属医院内分泌科 [5]北京市东城区社区卫生服务管理中心

出　　处：《中华医学杂志》2018年第18期1408-1413,共6页National Medical Journal of China

基　　金：国家科技支撑计划（2006BAI02B03）;国家自然科学基金（81100559,81270873）;国家临床重点专科建设项目（WBYZ2011-873）

摘　　要：目的探究α-辅肌动蛋白3（ACTN3）基因多态性与绝经后女性肌肉强度的相关性。方法纳入北京市东城区34个社区598例绝经后女性，年龄（62．9±7．0）岁。通过Sequenom Mass Array平台对ACTN3基因rs540874、rs618838、rs2229456位点进行基因分型，并分析其与绝经后女性肌肉强度的相关性。其中163例给予强化运动训练，271例给予钙剂600mg／d＋普通维生素D800U／d或骨化三醇0．25μg／d，随访2年，观察强化运动及维生素D补充后肌力变化与ACTN3基因型的相关性。结果rs540874位点不同基因型组间站立试验时间差异有统计学意义[GG（9．02±3．85）s比GA（9．27±4．14）S比AA（9．68±5．00）s，P=0．015]。G等位基因携带者右手握力具有高于A等位基因携带者的趋势，但差异无统计学意义[GG（24．53±5．45）N比GA（24．26±4．79）N比AA（23．66±4．32）N，P=0．056]。多重线性回归显示，AA基因型的受试者站立试验较GA、GG基因型显著延长（B=2．639，95％C1：1．632-4．646，P=0．010）。rs618838、rs2229456基因型与双手握力及站立试验时间均无明显相关性（均P〉0．05）。此外，rs540874位点G等位基因携带者、rs618838位点c等位基因携带者、rs2229456位点A等位基因携带者强化运动及维生素D补充后下肢肌力均显著增加（均P〈0．05）。结论ACTN3基因的rs540874位点与绝经后女性下肢肌力相关；rs540874、rs618838、rs2229456位点不同基因型可能与干预后下肢肌力获益有关。Objective To explore the association between α-actinin-3 （ACTN3） polymorphism and muscle strength in postmenopausal women. Methods Five hundred and ninety-eight postmenopausal women with an average of （ 62. 9 ± 7.0 ） years old in Dongcheng District of Beijing were included. The ACTN3 polymorphism including rs540874, rs618838 and rs2229456 were genotyped by Sequenom Mass Array to explore their associations with muscle strength. One hundred and sixty-three of them were trained with regular Tai chi movement while 271 were administered with elemental calcium 600 mg/d combined with Vitamin D 800 U/d or calcitriol 0. 25 μg/d for 2 years. Association between changes of muscle strength and ACTN3 polymorphism were analyzed. Results The rs540874 genotypes were found to be significantly associated with chair stand test[ GG （9.02 ±3.85） s vs GA （9.27±4. 14） s vs AA （9. 68±5.00） s, P = 0. 015 ]. Right grip strength in women with G allele were likely to be higher compared with A allele, but it was not statistically significant （P = 0. 056 ）. Multiple linear regression showed that the chair stand test ofAA genotype was statistically longer than that of GG and GA genotype （ β = 2. 639, 95% CI： 1. 632 - 4. 646, P = 0. 010）. The associations between rs618838, rs2229456 genotypes and muscle strength of both lower and upper limbs were not significant （ all P 〉 0. 05 ）. In addition, musele strength of lower limbs of patients with rs540874 genotyped with G allele, rs618838 genotyped with C allele and rs2229456 genotyped with A allele increased significantly after enhanced exercise and vitamin D supplementation （ all P 〈 0. 05 ）. Conclusions The rs540874 polymorphism of ACTN3 gene was associated with the muscle function of lower limb in postmenopausal women. The improvement of musele strength after intervention were possibly correlated with rs540874, rs618838 and rs2229456 polymorphisms.

关 键 词：辅肌动蛋白 多态性 单核苷酸 绝经后期 肌肉强度 

分 类 号：R711[医药卫生—妇产科学]