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http://dx.doi.org/10.5352/JLS.2010.20.12.1758

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

Jin, Hyun-Seok (Department of Medical Genetics, School of Medicine, Ajou University)
Eom, Yong-Bin (Department of Biomedical Laboratory Science, Korea Nazarene University)
Publication Information
Journal of Life Science / v.20, no.12, 2010 , pp. 1758-1763 More about this Journal
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.
Keywords
Bone density; SQSTM1; SNP; association;
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