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High Prevalence of Connective Tissue Gene Variants in Professional Ballet.
The American Journal of Sports Medicine ( IF 4.8 ) Pub Date : 2019-11-25 , DOI: 10.1177/0363546519887955
Angelina M Vera 1 , Leif E Peterson 1 , David Dong 1 , Varan Haghshenas 1 , Thomas R Yetter 1 , Domenica A Delgado 1 , Patrick C McCulloch 1 , Kevin E Varner 1 , Joshua D Harris 1
Affiliation  

BACKGROUND There is a high prevalence of hypermobility spectrum disorder (HSD) in dancers. While there is no known genetic variant for HSD, hypermobile Ehlers-Danlos syndrome is a genetic disorder that exists within HSD. There are many connective tissue disorders (CTDs) with known (and unknown) genes associated with hypermobility. Hypermobility has distinct advantages for participation in flexibility sports, including ballet. PURPOSE To determine the prevalence of gene variants associated with hypermobility in a large professional ballet company. STUDY DESIGN Cross-sectional study; Level of evidence, 3. METHODS In this cross-sectional investigation, 51 professional male and female dancers from a large metropolitan ballet company were eligible and offered participation after an oral and written informed consent process. Whole blood was obtained from peripheral venipuncture, and DNA was isolated. Isolated DNA was subsequently enriched for the coding exons of 60 genes associated with CTD that included hypermobility as a phenotype, including Ehlers-Danlos syndromes, osteogenesis imperfecta, Marfan syndrome, and others. Genes were targeted with hybrid capture technology. Prepared DNA libraries were then sequenced with next-generation sequencing technology. Genetic database search tools (Human Gene Mutation Database and e!Ensembl, http://useast.ensembl.org/ ) were used to query specific variants. Descriptive statistics were calculated. RESULTS Of 51 dancers, 32 (63%) agreed to participate in DNA analysis (mean ± SD age, 24.3 ± 4.4 years; 18 men, 14 women). Twenty-eight dancers had at least 1 variant in the 60 genes tested, for an 88% prevalence. A total of 80 variants were found. A variant in 26 of the 60 genes was found in at least 1 dancer. Among the 28 dancers with variants, 16 were found in the TTN gene; 10 in ZNF469; 5 in RYR1; 4 in COL12A1; 3 in ABCC6 and COL6A2; 2 in ADAMTS2, CBS, COL1A2, COL6A3, SLC2A10, TNC, and TNXB; and 1 in ATP6V0A2, B4GALT7, BMP1, COL11A1, COL5A2, COL6A1, DSE, FBN1, FBN2, NOTCH1, PRDM5, SMAD3, and TGFBR1. Nine variants found in this population have never been reported. No identified variant was identical to any other variant. No identified variant was known to be disease causing. In the general population, the prevalence of each variant ranges from never reported to 0.33%. In the study population, the prevalence of each variant was 3.13%. There was no association between hypermobility scores and genetic variants. CONCLUSION Genetic variants in CTD-associated genes are highly prevalent (88%) in professional ballet dancers. This may significantly account for the high degree of motion in this population.

中文翻译:

专业芭蕾中结缔组织基因变异的高流行率。

背景技术在舞蹈演员中,高迁移率频谱障碍(HSD)的患病率很高。虽然没有已知的HSD遗传变异,但活动过度的Ehlers-Danlos综合征是HSD中存在的一种遗传疾病。有许多结缔组织疾病(CTD),它们具有与运动过度相关的已知(和未知)基因。高机动性对于参加包括芭蕾舞在内的柔韧性运动具有明显的优势。目的确定大型专业芭蕾舞团中与运动过度相关的基因变异的流行程度。研究设计横断面研究;证据等级,3。方法在本项横断面调查中,来自大都市芭蕾舞团的51名专业男女舞蹈演员经过口头和书面知情同意程序后才有资格参加比赛。从外周静脉穿刺获得全血,并分离DNA。随后,分离出的DNA富集了与CTD相关的60个基因的编码外显子,其中包括作为表型的运动过度,包括Ehlers-Danlos综合征,成骨不全症,Marfan综合征等。基因是用杂交捕获技术靶向的。然后用下一代测序技术对制备的DNA文库进行测序。遗传数据库搜索工具(人类基因突变数据库和e!Ensembl,http://useast.ensembl.org/)用于查询特定变体。计算描述统计量。结果在51位舞者中,有32位(63%)同意参加DNA分析(平均年龄±SD,24.3±4.4岁; 18位男性,14位女性)。在测试的60个基因中,有28个舞者的变异率至少为1,患病率为88%。总共发现80个变体。在至少1位舞者中发现了60个基因中的26个变异。在28个具有变异的舞者中,有16个是在TTN基因中发现的;另外16个是在TTN基因中发现的。ZNF469中为10;RYR1中为5;4在COL12A1中; ABCC6和COL6A2中为3;ADAMTS2,CBS,COL1A2,COL6A3,SLC2A10,TNC和TNXB中为2;ATP6V0A2,B4GALT7,BMP1,COL11A1,COL5A2,COL6A1,DSE,FBN1,FBN2,NOTCH1,PRDM5,SMAD3和TGFBR1中的1和1。从未报道过在该种群中发现的九种变体。没有确定的变体与任何其他变体相同。没有已知的致病变异。在一般人群中,每种变异的患病率从从未报道到0.33%。在研究人群中,每种变异的患病率为3.13%。高机动性得分与遗传变异之间没有关联。结论CTD相关基因的遗传变异在专业芭蕾舞演员中非常普遍(88%)。这可能显着说明了该人群的高度运动。
更新日期:2019-12-27
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