Association between non-Caucasian-specificASCC1gene polymorphism and osteoporosis and obesity in Korean postmenopausal women

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.