The Genetic Variations of SQSTM1 Gene are Associated with Bone Density in the Korean Population

Abstract

Osteoporosis is a complex systemic skeletal disease and a major public health concern worldwide. It is a heritable disorder characterized mainly by low bone density and/or low trauma osteoporotic fractures, both of which have strong genetic determination. However, the specific genetic variants determining risk for low bone density are still largely unknown. Here, we performed association analysis to elucidate the possible relationship between genetic polymorphisms in the SQSTM1 gene and low bone density. By examining a total of 7225 (men: 3622, women: 3603) subjects from the Korean population in the Korean Association REsource (KARE) study, we discovered that SQSTM1 gene polymorphisms were associated with bone density. The results of the BD-RT (bone density estimated by T-score at distal radius) showed that three SNPs (rs513235, rs3734007, and rs11249661) within the SQSTM1 gene were significantly associated with bone density. The results of the BD-TT (bone density estimated by T-score at midshaft tibia) showed that four SNPs (rs513235, rs3734007, rs2241349, and rs11249661) were significantly associated with bone density. The three SNPs (rs513235, rs3734007, and rs11249661) had common significance in both BD-RT and BD-TT. In summary, we found statistically significant SNPs in the SQSTM1 gene that are associated with bone density traits. Therefore, our findings suggest SQSTM1 gene could be related to pathogenesis of osteoporosis.

Association of the TREML2 and HTR1E Genetic Polymorphisms with Osteoporosis

“…In addition to the multi-omics integration method, conventional genetic association studies, such as replication association study and candidate gene association study, have been used to find or evaluate susceptible genes for diseases (Jin et al, 2011;Jin & Eom, 2012a;Jin et al, 2014;Jin & Eom, 2012b). Our results suggest that the multi-omics integration method, which uses web sources of variations, gene expression, and various omics database, could be one of the conventional genetic association studies for identifying disease-related genes.…”