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October 31, 2022
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Genetic risk factors may be associated with adhesive capsulitis

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Results of a genome-wide association study identified a significant total genetic risk associated with adhesive capsulitis that was similar to the risks associated with hypothyroidism and diabetes.

“This study serves as a demonstration of the quantification of the contribution of genetics to an orthopedic condition and confirms what a lot of us suspected — genetics are important,” Mark T. Langhans, MD, PhD, orthopedic surgery sports fellow at Mayo Clinic Rochester, told Healio about the study, which was performed at Hospital for Special Surgery and Weill Cornell Medicine. “Specifically, we demonstrate that genetics are potentially more contributory to adhesive capsulitis than either of the recognized risk factors of diabetes or thyroid dysfunction.”

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Using the U.K. Biobank, Langhans and colleagues performed a genome-wide association study comparing 2,142 patients with adhesive capsulitis to patients without adhesive capsulitis. Researchers also conducted separate genome-wide association studies controlling for hypothyroidism and diabetes. Researchers conducted logistic regression analysis controlling for sex, thyroid dysfunction, diabetes, shoulder dislocation, smoking status and genetics.

Mark T. Langhans
Mark T. Langhans

Results showed three loci of significance included rs34315830 in WNT7B, rs2965196 in MAU2 and rs1912256 in POU1F1. When controlling for thyroid dysfunction and diabetes, researchers found these loci retained significance. Researchers noted total genetic risk had an odds ratio of 5.81 vs. an OR of 1.70 for hypothyroidism and an OR of 4.23 for diabetes.

“In the short term, the next steps are to utilize this information to help optimize clinical management by predicting responsiveness to [physical therapy] PT, injections or surgical release,” Langhans said. “In the longer term, investigating the mechanism of these variants in the pathology of adhesive capsulitis will yield insights into the disease process and hopefully lead to new treatments.”