Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?

IF 1.1 4区 医学 Q3 ORTHOPEDICS Acta orthopaedica et traumatologica turcica Pub Date : 2023-03-01 DOI:10.5152/j.aott.2023.22024
Jan Poszepczyński, Michał Pietrusiński, Maciej Borowiec, Marcin Edward Domżalski
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引用次数: 1

Abstract

Objective: The study aimed to investigate the polymorphism of fibrillin-2 (FBN2) and elastin genes in patients with Achilles tendon rupture and to compare the results with a control group of participants who did not experience such an injury.

Methods: In this prospective study, 106 consecutive patients in whom traumatic Achilles tendon rupture was diagnosed and treated were included. The control group consisted of randomly selected 92 athletes (10 women and 82 men) 85 of whom had practiced sports in the past, aged 40-76 years, who during their sports career did not experience Achilles tendon ruptures. Material for genetic tests was obtained by the swab from the oral cavity epithelium of all the study population.

Results: 102 (96%) of patients with traumatic Achilles tendon ruptures were people with polymorphism B or heterozygotes for the elastin gene. 97 (92%) of patients with traumatic Achilles tendon ruptures were people with polymorphism B and heterozygotes for the FBN2 gene. Patients with homozygote A of the elastin gene and homozygote A of the FBN2 gene demonstrated a considerably lower incidence rate of sport-related Achilles tendon rupture. The type of sport that led to the Achilles tendon rupture and the amount of experience practicing it, as well as BMI and drug usage, did not contribute to a higher rate of incidence of any additional musculoskeletal problems or a longer time to return to their pre-injury sports activity. Polymorphisms of the fibrillin 2 (P=.0001) and elastin (P=.0009) genes impact the occurrence of traumatic injury to the Achilles tendon. However, it does not affect the length of full recovery time (P =.2251).

Conclusion: Minimally invasive and, above all, safe collection of genetic material from the epithelium of the oral cavity in order to assess the polymorphic state of the FBN and elastin genes may allow the identification of a group of players at risk of Achilles tendon rupture resulting in long-term injury, which will significantly affect their sports career in the future.

Level of evidence: Level II, Prognostic Study.

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评估创伤性跟腱断裂患者的纤维蛋白-2和弹性蛋白基因多态性:跟腱断裂是一种遗传性疾病吗?
目的:本研究旨在研究跟腱断裂患者中纤维蛋白-2 (FBN2)和弹性蛋白基因的多态性,并将结果与未经历此类损伤的对照组进行比较。方法:在这项前瞻性研究中,纳入106例连续诊断和治疗外伤性跟腱断裂的患者。对照组由随机选择的92名运动员(10名女性和82名男性)组成,其中85人在过去进行过运动,年龄在40-76岁之间,在他们的运动生涯中没有经历过跟腱断裂。基因检测的材料是通过从所有研究人群的口腔上皮中提取的拭子获得的。结果:102例(96%)外伤性跟腱断裂患者为弹性蛋白基因多态性B型或杂合子。97例(92%)外伤性跟腱断裂患者为FBN2基因多态性B和杂合子。具有弹性蛋白基因A纯合子和FBN2基因A纯合子的患者运动相关性跟腱断裂的发生率明显较低。导致跟腱断裂的运动类型、运动经验、身体质量指数和药物使用并没有增加任何额外肌肉骨骼问题的发生率,也没有延长恢复受伤前运动活动的时间。原纤维蛋白2 (P= 0.0001)和弹性蛋白(P= 0.0009)基因多态性影响跟腱外伤性损伤的发生。但对完全恢复时间的长短没有影响(P =.2251)。结论:微创,最重要的是,从口腔上皮中安全收集遗传物质,以评估FBN和弹性蛋白基因的多态性状态,可以识别出一组有跟腱断裂风险的运动员,从而导致长期损伤,这将对他们未来的运动生涯产生重大影响。证据等级:II级,预后研究。
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来源期刊
CiteScore
2.00
自引率
0.00%
发文量
66
审稿时长
>12 weeks
期刊介绍: Acta Orthopaedica et Traumatologica Turcica (AOTT) is an international, scientific, open access periodical published in accordance with independent, unbiased, and double-blinded peer-review principles. The journal is the official publication of the Turkish Association of Orthopaedics and Traumatology, and Turkish Society of Orthopaedics and Traumatology. It is published bimonthly in January, March, May, July, September, and November. The publication language of the journal is English. The aim of the journal is to publish original studies of the highest scientific and clinical value in orthopedics, traumatology, and related disciplines. The scope of the journal includes but not limited to diagnostic, treatment, and prevention methods related to orthopedics and traumatology. Acta Orthopaedica et Traumatologica Turcica publishes clinical and basic research articles, case reports, personal clinical and technical notes, systematic reviews and meta-analyses and letters to the Editor. Proceedings of scientific meetings are also considered for publication. The target audience of the journal includes healthcare professionals, physicians, and researchers who are interested or working in orthopedics and traumatology field, and related disciplines.
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