Association between non-Caucasian-specificASCC1gene polymorphism and osteoporosis and obesity in Korean postmenopausal women
- Authors
- Cho, Hye-Won; Jin, Hyun-Seok; Eom, Yong-Bin
- Issue Date
- Nov-2020
- Publisher
- Springer Verlag
- Keywords
- Osteoporosis; Obesity; Postmenopausal women; ASCC1; Genome-wide association study (GWAS)
- Citation
- Journal of Bone and Mineral Metabolism, v.38, no.6, pp 868 - 877
- Pages
- 10
- Journal Title
- Journal of Bone and Mineral Metabolism
- Volume
- 38
- Number
- 6
- Start Page
- 868
- End Page
- 877
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2382
- DOI
- 10.1007/s00774-020-01120-2
- ISSN
- 0914-8779
1435-5604
- 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 significantpvalues (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 theASCC1gene and one to theFAM50Bgene. We carried out a minor allele frequency (MAF) analysis of the rs7097028 and rs11000205 SNPs in theASCC1gene with a geographic genome variant browser. Both rs7097028 and rs11000205 in theASCC1gene were seen mostly in African and Southeast Asian populations. Conclusions Our results suggest that theASCC1gene is a significant genetic factor for determining the risk for both osteoporosis and obesity in KARE postmenopausal females.
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Collections - College of Medical Sciences > Department of Biomedical Laboratory Science > 1. Journal Articles
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