An integrative study ascertained SOD2 as a susceptibility gene for osteoporosis in Chinese

• Published in: Journal of bone and mineral research 2011-11, Vol.26 (11), p.2695-2701
• Main Authors: Deng, Fei‐Yan, Lei, Shu‐Feng, Chen, Xiang‐Ding, Tan, Li‐Jun, Zhu, Xue‐Zhen, Deng, Hong‐Wen
• Format: Article
• Language: English
• Subjects: Adult; Asian People - genetics; Biological and medical sciences; BMD; Bone Density - genetics; China; EQTL; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Enzymologic; Genetic Loci - genetics; Genetic Predisposition to Disease; Hip - physiopathology; Humans; Osteoporosis; Osteoporosis - genetics; Polymorphism, Single Nucleotide - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; Skeleton and joints; SOD2; Superoxide Dismutase - genetics; Superoxide Dismutase - metabolism; Vertebrates: osteoarticular system, musculoskeletal system
• ISSN: 0884-0431; 1523-4681
• DOI: 10.1002/jbmr.471

Osteoporosis is characterized by low BMD and has strong genetic determination. However, specific genetic variants influencing BMD and contributing to the pathogenesis of osteoporosis are largely uncharacterized. Current genetic studies in bone, which are aimed at identification of osteoporosis risk genes, are focused mostly on DNA, RNA, or the protein level individually, lacking integrative evidence from the three levels of genetic information flow to confidently ascertain the significance of genes for osteoporosis. Our previous proteomics study discovered that superoxide dismutase 2 (SOD2) in circulating monocytes (CMCs, ie, potential osteoclast precursors) was significantly upregulated at protein level in vivo in Chinese with low versus high hip BMD. Herein, at mRNA level, we found that SOD2 gene expression also was upregulated in CMCs (p