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Approved Research

Joint-specific genome-wide association analysis of osteoarthritis

Principal Investigator: Dr Taku Saito
Approved Research ID: 67510
Approval date: January 11th 2021

Lay summary

Osteoarthritis is a common musculoskeletal disease that is largely responsible for quality of life in middle age and beyond, but its pathogenesis and genetic background remain largely unexplored, and its treatment is limited to symptomatic treatment and joint replacement surgery. The clinical manifestations of osteoarthritis vary slightly according to the affected joints. In our clinical experience, it seems that the background of patients differs according to the affected joints. Osteoarthritis has been shown to be genetically associated with BMI, but osteoarthritis in the hand was reported to be not associated with BMI. It has also been reported that osteoarthritis in different joints was not genetically correlated with each other in a twin study. Our aim is to investigate the pathogenesis of joint-specific osteoarthritis from a genetic perspective.

In this project, we will perform a genome-wide association analysis of osteoarthritis for each affected joint and integrate the data with tissue-specific epigenomic data. We will also integrate the data with genome-wide association analyses of other published traits to investigate genetic associations. The project duration is three years.

This study will help us to elucidate the tissues involved in the pathogenesis of osteoarthritis and the traits associated with osteoarthritis for each affected joint, which will lead to a joint-specific, fundamental treatment.