Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal
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ORIGINAL ARTICLE
Association between non‑Caucasian‑specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women Hye‑Won Cho1 · Hyun‑Seok Jin2 · Yong‑Bin Eom1,3 Received: 2 April 2020 / Accepted: 13 June 2020 © The Japanese Society Bone and Mineral Research and Springer Japan KK, part of Springer Nature 2020
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 30%), or gender mismatch were excluded. We performed GWAS and selected three SNPs in two genes (ASCC1 and FAM50B). The location of the genes and SNPs on the chromosome was based on the NCBI human genome build 36 (hg18) assembly.
Journal of Bone and Mineral Metabolism Table 1 Characteristics of the women aged ≥ 40 and 50 years in the KARE study cohort Characteristics
≥ 40-year-old women (age, 40–69 years) No Age (M years ± SD) Weight (M kg ± SD) Height (M cm ± SD) BMI (M kg/m2 ± SD) Distal radius speed of sound (DR-SOS) (m/s) Midshaft tibia speed of sound (MT-SOS) (m/s) DR-SOS T score MT-SOS T score ≥ 50-year-old women (age, 50–69 years) No Age (M years ± SD) Weight (M kg ± SD) Height (M cm ± SD) BMI (M kg/m2 ± SD) Distal radius speed of sound (DR-SOS) (m/s) Midshaft tibia speed of sound (MT-SOS) (m/s) DR-SOS T score MT-SOS T score
Quantitative trait analysis for BMI
Case–control analysis for osteoporosis Controls
Cases
p value*
3013 51.59 ± 8.89 58.56 ± 8.51 153.96 ± 5.54 24.68 ± 3.22 4172 ± 170 3919 ± 158 0.17 ± 1.39 − 0.31 ± 1.49
2223 48.15 ± 7.23 58.42 ± 7.92 154.94 ± 5.36 24.32 ± 2.97 4273 ± 144 3949 ± 114 0.80 ± 1.20 0.002 ± 1.03
443 60.37 ± 6.64 58.47 ± 9.33 151.47 ± 5.42 25.44 ± 3.43 3991 ± 199 3599 ± 122 − 1.56 ± 1.69 − 3.34 ± 1.08
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