J Genet Med.
2022 Dec;19(2):63-75. 10.5734/JGM.2022.19.2.63.
Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
- Affiliations
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- 1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea
- 2Division of Intractable Diseases Research, Department of Chronic Diseases Convergence Research, Korea National Institute of Health, Osong Health Technology Administration Complex, Cheongju, Korea
- 3Department of Medical Sciences, Ajou University Graduate School of Medicine, Suwon, Korea
- 4Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, Korea
- 5AI-Superconvergence KIURI Translational Research Center, Ajou University School of Medicine, Suwon, Korea
- 6Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Korea
- KMID: 2537688
- DOI: http://doi.org/10.5734/JGM.2022.19.2.63
Abstract
- Purpose
Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced risk of bone fragility. In this study, we aimed to identify novel genes for susceptibility to osteoporosis and/or bone density.
Materials and Methods
To identify differentially expressed genes (DEGs) between control and osteoporosis-induced cells, annealing control primer-based differential display reverse-transcription polymerase chain reaction (RT-PCR) was carried out in pre-osteoblast MC3T3-E1 cells. Expression levels of the identified DEGs were evaluated by quantitative RT-PCR. Association studies for the quantitative bone density analysis and osteoporosis case-control analysis of single nucleotide polymorphism (SNPs) were performed in Korean women (3,570 subjects) from the Korean Association REsource (KARE) study cohort.
Results
Comparison analysis of expression levels of the identified DEGs by quantitative RT-PCR found seven genes, Anxa6, Col5a1, Col6a2, Eno1, Myof, Nfib, and Scara5, that showed significantly different expression between the dexamethasontreated and untreated MC3T3-E1 cells and between the ovariectomized osteoporosis-induced mice and sham mice. Association studies revealed that there was a significant association between the SNPs in the five genes, ANXA6, COL5A1, ENO1, MYOF, and SCARA5, and bone density and/or osteoporosis.
Conclusion
Using a whole-genome comparative expression analysis, gene expression evaluation analysis, and association analysis, we found five genes that were significantly associated with bone density and/or osteoporosis. Notably, the association P-values of the SNPs in the ANXA6 and COL5A1 genes were below the Bonferroni-corrected significance level.
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