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Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.与遗传性人类钙敏感受体紊乱相关的新突变:一项临床遗传学研究。
Eur J Endocrinol. 2019 Jan 1;180(1):59-70. doi: 10.1530/EJE-18-0129.
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The interactions of physical activity, exercise and genetics and their associations with bone mineral density: implications for injury risk in elite athletes.体力活动、锻炼和遗传因素的相互作用及其与骨密度的关系:对精英运动员受伤风险的影响。
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钙敏感受体基因多态性(CASRV1和CASRV2)与波兰下西里西亚男性的身体活动水平

Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.

作者信息

Zagrodna Aleksandra, Ksia Żek Anna, Słowińska-Lisowska Małgorzata, Łaczmański Łukasz

机构信息

Department of the Biological and Motor Basis of Sport, University School of Physical Education in Wrocław, Wrocław, Poland.

Laboratory of Genomics & Bioinformatics, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.

出版信息

Front Genet. 2020 Apr 21;11:325. doi: 10.3389/fgene.2020.00325. eCollection 2020.

DOI:10.3389/fgene.2020.00325
PMID:32373159
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7186392/
Abstract

Calcium-sensing receptors (CASR) are a dimeric family of C-class G-protein-coupled receptors that play a crucial role in bone and mineral metabolism by regulating parathyroid hormone (PTH) secretion, skeletal development, and urinary Ca excretion. Genetic factors mainly impact bone mineral density (BMD). However, many variable factors may affect bone health, including physical activity. The aim of our study was to investigate the potential associations between calcium-sensing receptor gene polymorphisms (CASRV1 and CASRV2) and the level of physical activity in adult males from Lower Silesia, a region in the south of Poland. A total of 428 adult male inhabitants of Lower Silesia were included in the study. Their physical activity was evaluated using the International Physical Activity Questionnaire. The CASRV1 (rs 1801725, G>T, A986S) and CASRV2 (rs 761486, T>G, non-coding region) polymorphisms were determined using polymerase chain reaction (PCR) and mini-sequencing. The polymorphisms were identified with GeneScan software ver. 3.1.2. We did not observe any statistically significant differences between the total energy expenditure (total MET) and the CASRV1 and CASRV2 polymorphisms. We did not find any association between the level of physical activity and the frequency of genotypes at the polymorphic locus of the calcium-sensing receptor genes CASRV1 and CASRV2. We found that the number of hours the subjects spent in a sitting position was unrelated to the genotypes at the polymorphic locus of the calcium-sensing receptor gene CASRV1. Based on our studies, we concluded that there were no associations between CASR and physical activity in the men inhabiting Lower Silesia in Poland. Our results do not suggest any influence of the assessed genetic factors in the population variability of the level of physical activity of adults.

摘要

钙敏感受体(CASR)是C类G蛋白偶联受体的二聚体家族,通过调节甲状旁腺激素(PTH)分泌、骨骼发育和尿钙排泄,在骨骼和矿物质代谢中发挥关键作用。遗传因素主要影响骨密度(BMD)。然而,许多可变因素可能影响骨骼健康,包括体育活动。我们研究的目的是调查钙敏感受体基因多态性(CASRV1和CASRV2)与波兰南部下西里西亚地区成年男性体育活动水平之间的潜在关联。共有428名下西里西亚成年男性居民纳入本研究。使用国际体育活动问卷评估他们的体育活动。使用聚合酶链反应(PCR)和微测序确定CASRV1(rs 1801725,G>T,A986S)和CASRV2(rs 761486,T>G,非编码区)多态性。使用GeneScan软件3.1.2版鉴定多态性。我们未观察到总能量消耗(总代谢当量)与CASRV1和CASRV2多态性之间存在任何统计学上的显著差异。我们未发现体育活动水平与钙敏感受体基因CASRV1和CASRV2多态性位点的基因型频率之间存在任何关联。我们发现,受试者久坐的小时数与钙敏感受体基因CASRV1多态性位点的基因型无关。基于我们的研究,我们得出结论,在波兰下西里西亚居住的男性中,CASR与体育活动之间不存在关联。我们的结果未表明所评估的遗传因素对成年人体育活动水平的人群变异性有任何影响。