Jan Poszepczyński, Michał Pietrusiński, Maciej Borowiec, Marcin Edward Domżalski
{"title":"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?","authors":"Jan Poszepczyński, Michał Pietrusiński, Maciej Borowiec, Marcin Edward Domżalski","doi":"10.5152/j.aott.2023.22024","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p><p><strong>Level of evidence: </strong>Level II, Prognostic Study.</p>","PeriodicalId":7097,"journal":{"name":"Acta orthopaedica et traumatologica turcica","volume":"57 2","pages":"73-77"},"PeriodicalIF":1.1000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?\",\"authors\":\"Jan Poszepczyński, Michał Pietrusiński, Maciej Borowiec, Marcin Edward Domżalski\",\"doi\":\"10.5152/j.aott.2023.22024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p><p><strong>Level of evidence: </strong>Level II, Prognostic Study.</p>\",\"PeriodicalId\":7097,\"journal\":{\"name\":\"Acta orthopaedica et traumatologica turcica\",\"volume\":\"57 2\",\"pages\":\"73-77\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta orthopaedica et traumatologica turcica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5152/j.aott.2023.22024\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ORTHOPEDICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta orthopaedica et traumatologica turcica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5152/j.aott.2023.22024","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ORTHOPEDICS","Score":null,"Total":0}
Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
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.
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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