Elucidation of the causative gene of developmental dysplasia of the hip using Japonica array

• Project/Area Number: 17K10994
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Orthopaedic surgery
• Research Institution: Tohoku University
• Principal Investigator: Chiba Daisuke 東北大学, 大学病院, 助教 (20649727)
• Co-Investigator(Kenkyū-buntansha): 森 優 東北大学, 大学病院, 助教 (70634541) ; 橋本 功 東北大学, 医学系研究科, 講師 (00718497)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2017: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
• Keywords: 股関節形成不全 / 遺伝子解析 / ゲノム

Outline of Final Research Achievements

Developmental dysplasia of the hip (DDH) is common in Japanese with a frequency of approximately 0.3%. About 80% of patients with osteoarthritis of the hips (OA) are caused by DDH. The pain and deformity of the hip joint make walking difficult and the activities of daily living are significantly impaired. Prevention of OA is important.
The purpose of this study is to elucidate the causative gene of DDH using Japonica array, which is a genome-wide association analysis tool optimized for Japanese. The data of healthy subjects and those of DDH patients were compared. As a result of Japonica array analysis, 157 SNPs with a significantly high frequency in DDH were identified. In particular, it was suggested that the ubiquinol-cytochrome c reductase complex chaperone (UQCC) 1 gene is involved in the development of DDH in Japanese.

Academic Significance and Societal Importance of the Research Achievements

DDHによって変形性股関節症となり症状を発症するのは多くが高齢になってからである。高齢者で関節変形が起これば、介助を要するようになり、医療経済も悪化させる可能性がある。DDHに関連する遺伝子群を同定することで、将来の変形性股関節症の発症予測を可能とする礎となり、その素因者に対して、若年期のうちから将来の発症予防を啓発する診断システムの構築が可能となる。その結果として、高齢者の関節変形を予防し、ADL維持・改善に寄与し、広く国民の健康増進・維持に貢献することが期待される。