Frozen shoulder, or adhesive capsulitis, is a standard explanation for shoulder pain and immobility. Latest findings point to specific genes related to an increased risk of this condition, reports The Journal of Bone & Joint Surgery. The journal is published within the Lippincott portfolio in partnership with Wolters Kluwer.

The danger genes are related to nearly a sixfold increase in the chances of developing frozen shoulder – a stronger association for many known clinical risk aspects, in line with the brand new research by Mark T. Langhans, MD, PhD, of Hospital for Specialty Surgery, Latest York. The authors imagine their findings may lend latest insights into the causes, prevention, and treatment of adhesive capsulitis.

Genome-wide association study finds ‘significant loci’ affecting frozen shoulder risk

Patients with adhesive capsulitis develop painful and progressive lack of shoulder motion with associated pain. Frozen shoulder is probably the most common shoulder conditions, occurring in as much as 10% of individuals at a while of their lives. Although the precise cause is unclear, frozen shoulder sometimes occurs after an injury, surgery, or other condition that reduces shoulder mobility. Loss of motion results from fibrosis (scarring or thickening) of the capsule across the shoulder joint.

Certain clinical aspects are related to an increased risk of frozen shoulder, including diabetes, thyroid disease, and smoking. Recent studies have suggested that risk can also be higher in individuals with affected relatives – suggesting a possible genetic predisposition. Dr. Langhans and colleagues performed a genome-wide association study to discover specific genes that may be related to the chance of frozen shoulder.

Data studied from large British database

The study used data from a big British database, the UK Biobank, which incorporates genetic and health data on roughly 500,000 patients. The evaluation focused on 2,142 patients with adhesive capsulitis in comparison with those without this diagnosis. Possible genetic associations were adjusted for other aspects, including sex, diabetes, thyroid disease, history of shoulder dislocation, and smoking.

The study identified three significant loci for frozen shoulder. The strongest association was found for gene variants positioned at a site called WNT7B. This finding was consistent with previous studies that reported a possible link between WNT7B and frozen shoulder, together with several other orthopaedic-related conditions. Weaker associations were also found for 2 previously unreported genetic loci positioned near genes for POU1F1 and MAU2.

All three associations remained significant after adjustment for other aspects. Together, the three variants carried nearly a sixfold increase in the chances of developing frozen shoulder. That was greater than the chance related to diabetes (about four-fold) or thyroid disease (lower than two-fold), and second only to smoking (about 11-fold).

Latest insights may lead to a latest development

The findings may lend latest insights into the event of adhesive capsulitis. Particularly, genes positioned at WNT7B have been shown to be expressed in bone-forming cells (osteoblasts) and to be involved in regulating fibrosis, together with a big selection of other functions. The 2 newly reported loci, POU1F1 and MAU2, are involved with cell division, which could lend clues into the cellular mechanism by which frozen shoulder develops.

The researchers note some key limitations of their evaluation, including the necessity for further studies of genetic associations in groups apart from the white, British population that predominates within the UK Biobank.

Meanwhile, the brand new study identifies several gene loci with the power to predict a clinically relevant risk of frozen shoulder. Dr. Langhans and colleagues conclude: “Refining the genetic risk metric and including it in a bigger clinical model could allow patients in danger for future adhesive capsulitis to be identified, resulting in efforts at prevention, early diagnosis, and ultimately improved outcomes.”

Source:

Journal reference:

Kulm, S., et al. (2022) Genome-Wide Association Study of Adhesive Capsulitis Suggests Significant Genetic Risk Aspects. Journal of Bone & Joint Surgery. doi.org/10.2106/JBJS.21.01407.