Two hands viewed in X-ray format showing red areas of inflammation around the joints to indicate arthritis or rheumatic disease
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A study led by researchers at the Copenhagen University Hospital suggests that individuals with thumb osteoarthritis who have surgery have different genetic variants than individuals who have non-surgical treatment.

It is early days, but the results of the study suggest that treatment outcomes or prognosis of this common and debilitating condition could be linked to genetics.

Osteoarthritis, a type of degenerative joint condition that leads to breakdown of joint cartilage and bone, is very common and affects around 33 million U.S. adults. It most commonly impacts knee joints, but the hip and the hand joints are also very often affected. The condition is thought to be caused by both environmental and genetic factors, but it does seem to have a high degree of heritability with estimates ranging from 40–70% depending on the joints impacted.

Treatment of thumb osteoarthritis depends on the severity of the condition and the lifestyle of the person impacted but can be surgical or non-surgical. Surgical options include removal of a small bone at the base of the thumb, fusion of the thumb joint or, in severe cases, joint replacement. Non-surgical options include pharmacological pain relief, wearing a splint and hand therapy.

The case-control genome-wide association study (GWAS) was published in the Journal of Orthopedic Research and was carried out using data from participants of the Copenhagen Hospital Biobank pain and degenerative musculoskeletal disease study and the Danish Blood Donor Study.

Overall, the study included 1083 patients with thumb osteoarthritis who underwent surgical treatment and 1888 who had nonsurgical treatment. The results of the genome wide association study revealed 10 variants linked with thumb osteoarthritis in the whole group, but these seemed to differ depending on treatment type. Seven were linked more closely to surgical treatment, for example, a variant in the gene MVK which plays an important role in cholesterol synthesis, also in the genes OXR1 and STAB2, whereas three were linked to non-surgical treatment.

“Our findings delve into the genetic architecture of osteoarthritis in the thumb base, hinting at a potential genetic influence on the need for surgery,” said first author Cecilie Henkel a researcher based at Copenhagen University Hospital Hvidovre in Denmark, in a press statement.

“While no solid conclusions about the effect of specific genetic variants on the need for surgical treatment should be made at this stage, our study marks a stride towards integrating genetic insights into the clinical management of osteoarthritis, with the long-term aim of refining diagnosis, treatment, and preventative strategies for this common and debilitating disease.”

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