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Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women

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Journal of Bone and Mineral Metabolism Aims and scope Submit manuscript

Abstract

Introduction

Osteoporosis is a common disorder characterized by decreased bone mineral density (BMD). Interestingly, osteoporosis and obesity have several similar features, including a genetic predisposition and a common bone marrow stem cell. With aging, the composition of bone marrow shifts to adipocytes, osteoclast activity increases, and osteoblast function declines, resulting in osteoporosis.

Materials and methods

We performed a genome-wide association study (GWAS) analysis with osteoporosis and body mass index (BMI) and did identify an association in 349 and 384 SNPs by filtering with the significant p values (p < 0.001) of BMI and osteoporosis, respectively.

Results

Only three of those SNPs were common (rs2326365, rs7097028, and rs11000205) between the SNPs significantly associated with BMI and/or osteoporosis in Korean Association REsource (KARE) females. Two of the three SNPs belonged to the ASCC1 gene and one to the FAM50B gene. We carried out a minor allele frequency (MAF) analysis of the rs7097028 and rs11000205 SNPs in the ASCC1 gene with a geographic genome variant browser. Both rs7097028 and rs11000205 in the ASCC1 gene were seen mostly in African and Southeast Asian populations.

Conclusions

Our results suggest that the ASCC1 gene is a significant genetic factor for determining the risk for both osteoporosis and obesity in KARE postmenopausal females.

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Acknowledgements

This work was supported by the Soonchunhyang University research fund, and the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education [NRF-2020R1F1A1071977].

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Author notes

  1. Hye-Won Cho and Hyun-Seok ** contributed equally to this work.

Authors and Affiliations

  1. Department of Medical Sciences, College of Medical Sciences, Soonchunhyang University, Asan, Chungnam, 31538, Republic of Korea

    Hye-Won Cho & Yong-Bin Eom

  2. Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Chungnam, 31499, Republic of Korea

    Hyun-Seok **

  3. Department of Biomedical Laboratory Science, College of Medical Sciences, Soonchunhyang University, 22 Soonchunhyang-ro, Shinchang-myeon, Asan, Chungcheongnam, 31538, Republic of Korea

    Yong-Bin Eom

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  1. Hye-Won Cho
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Contributions

YBE and HSJ participated in the design of the study, contributed to data reduction/analysis and interpretation of results; HWC contributed to data analysis and interpretation of results. All authors contributed to the manuscript writing. All authors reviewed and approved the final version of the manuscript and agree with the order of presentation of the authors.

Corresponding author

Correspondence to Yong-Bin Eom.

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The authors declare no competing interests.

Ethical approval

This study was approved by the Institutional Review Board of the Korean National Institute of Health (KNIH, KBN-2017-046) and Hoeso University (1041231170418-HR-056-02). Written informed consent was obtained from all subjects.

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Cho, HW., **, HS. & Eom, YB. Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. J Bone Miner Metab 38, 868–877 (2020). https://doi.org/10.1007/s00774-020-01120-2

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  • DOI: https://doi.org/10.1007/s00774-020-01120-2

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