한빛사논문
- 조회447
Jeonghyun Kim 1,2,12, Bo-Young Kim 3,12, Jeong-Soo Lee 4,5,6,12, Yun-Mi Jeong 7,12, Hyun-Ju Cho 5, Eunkuk Park 1, Dowan Kim 1, Sung-Soo Kim 8, Bom-Taeck Kim 9, Yong Jun Choi 10, Ye-Yeon Won 11, Hyun-Seok Jin 8,*, Yoon-Sok Chung 10,* & Seon-Yong Jeong 1,2,*
1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.
2Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, Republic of Korea.
3Division of Intractable Disease, Center for Biomedical Sciences, National Institute of Health, Korea Centers for Disease Control & Prevention, Cheongju, Republic of Korea.
4Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.
5Microbiome Convergence Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Republic of Korea.
6KRIBB School, University of Science and Technology, Daejeon, Republic of Korea.
7Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Republic of Korea.
8Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Republic of Korea.
9Department of Family Practice and Community Health, Ajou University School of Medicine, Suwon, Republic of Korea.
10Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Republic of Korea.
11Department of Orthopedic Surgery, Ajou University School of Medicine, Suwon, Republic of Korea.
12These authors contributed equally: Jeonghyun Kim, Bo-Young Kim, Jeong-Soo Lee, and Yun-Mi Jeong.
*Corresponding author: correspondence to Hyun-Seok Jin, Yoon-Sok Chung or Seon-Yong Jeong
Abstract
Osteoporosis is a condition characterized by decreased bone mineral density (BMD) and reduced bone strength, leading to an increased risk of fractures. Here, to identify novel risk variants for susceptibility to osteoporosis-related traits, an exome-wide association study is performed with 6,485 exonic single nucleotide polymorphisms (SNPs) in 2,666 women of two Korean study cohorts. The rs2781 SNP in UBAP2 gene is suggestively associated with osteoporosis and BMD with p-values of 6.1 × 10−7 (odds ratio = 1.72) and 1.1 × 10−7 in the case-control and quantitative analyzes, respectively. Knockdown of Ubap2 in mouse cells decreases osteoblastogenesis and increases osteoclastogenesis, and knockdown of ubap2 in zebrafish reveals abnormal bone formation. Ubap2 expression is associated with E-cadherin (Cdh1) and Fra1 (Fosl1) expression in the osteclastogenesis-induced monocytes. UBAP2 mRNA levels are significantly reduced in bone marrow, but increased in peripheral blood, from women with osteoporosis compared to controls. UBAP2 protein level is correlated with the blood plasma level of the representative osteoporosis biomarker osteocalcin. These results suggest that UBAP2 has a critical role in bone homeostasis through the regulation of bone remodeling.
논문정보
- Research article
- 2023년 06월 (BRIC 등록일 2023-06-21)
- 국내 연구진
- 의약학 > 유전 및 유전체의학
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