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Researchers Identify Genetic Factor Involved in Tendon-Injury Risk Among Young Athletes

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NEW YORK (Reuters Health) – Genetic factors may predispose some young athletes to rotator cuff tendinopathy, according to a new research from Spain.The prevalence of rotator cuff tendinopathy increases with age, but many young athletes are also at a higher risk of this condition compared with the general population due to increased shoulder load during sports.webmd.ads2.defineAd({id:’ads-pos-1122′,pos: 1122});Emerging research suggests genetic factors may also play a role, with studies often focusing on genes involved in collagen production and regulation.The Spanish research group, headed by Dr. Ivan Chulvi-Medrano of the University of Valencia, evaluated the associations between several genetic polymorphisms and rotator cuff tendinopathy in 137 young athletes. A total of 49 athletes had rotator cuff tendon pathology, while 88 where otherwise healthy and had no evidence of tendon abnormalities. All participants in this study played upper-limb-loading sports and were therefore at risk for rotator cuff tendinopathy.

webmd.ads2.defineAd({id:’ads-pos-520′,pos: 520});The team performed a genetic analysis to identify the prevalence of five genetic polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907. These were chosen because they have been consistently implicated in the etiology of musculoskeletal soft-tissue injuries in previous studies.

webmd.ads2.defineAd({id:’ads-pos-1520′,pos: 1520});A significant association was found between COL5a1 rs12722 and pathology present in rotator cuff tendons (P=0.042), the researchers report in Clinical Journal of Sport Medicine. In addition, they found a direct relationship between CC genotype and bilateral pathological ultrasound findings.The COL5a1 rs12722 polymorphism was also correlated with hypermobility, as demonstrated by its association with lower Beighton scores. These scores were used during the physical examination portion of the study which assessed participants’ shoulder laxity.There was no link between the other polymorphisms and tendon pathology.

webmd.ads2.defineAd({id:’ads-pos-141′,pos: 141});The researchers say the finding of “a significant association between the CC genotype and increased risk of tendinopathy is of great interest, given that, in other tendons, it has been shown to have protective effects.”They add that the CC genotype for COL5a1 rs12722 represents “a strong candidate to develop tendinopathy in the rotator cuff.”Dr. Michael Fredericson, a sports medicine physiatrist and professor of orthopedic surgery at the Stanford University Medical Center, in California, told Reuters Health by phone that the new findings could have clinical implications down the road, especially since there are limited treatment options available for rotator cuff injuries.Although it’s still too early to know how the identified genes will play a role in treatment decisions, there is hope that the accumulating evidence will offer answers over time, said Dr. Fredericson, who wasn’t involved in the study.

webmd.ads2.defineAd({id:’ads-pos-420′,pos: 420});He and his colleagues have published similar studies looking at genetic variants and their association with sports-related injuries. In April, they identified two genetic polymorphisms which served as risk factors for concussion, and in 2017, the researchers investigated associations between several polymorphisms and Achilles’ tendon injury and tendinopathy.”I think what we’re going to find down the road is that there is going to be a combination of different markers that can be put together to identify risk of tendon injuries,” Dr. Fredericson explained.Athletes testing positive with such a panel of predictive markers might want to increase strengthening programs and perform “proactive physical therapy” to prevent these injuries, Dr. Fredericson suggested, or be monitored more closely for potential injury.But he also sounded a cautious note. “A lot of people might have these polymorphisms but will never develop a rotator cuff injury,” he said. “So, it’s probably going to be some combination of factors that puts you high risk, others maybe moderate risk, and others low risk.”Dr. Fredericson added that the presence of genetic risk factors for tendon injuries shouldn’t prevent a person from playing sports.”For a person with a gene for rotator cuff injury, you’re probably not going to tell them not to do their sport and not to do anything that involves throwing or lifting,” he explained. “That message can really get into an athlete psyche, and so there’s a real sort of ethical dilemma here that we’re facing as sports-medicine physicians about how to carefully convey this information.”SOURCE: https://bit.ly/3yvrt1Z Clinical Journal of Sport Medicine, online May 7, 2021.


Reuters Health Information © 2021 


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