1. ACTUALITĂȚI ÎN GENETICA OSTEOPOROZEI.
- Author
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Baculescu, Nicoleta and Poiană, Cătălina
- Subjects
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OSTEOPOROSIS genetics , *HOMEOSTASIS , *AGE factors in disease , *BONE density , *MESENCHYMAL stem cells , *PATHOLOGICAL physiology , *DRUG development - Abstract
Primary osteoporosis is a common age-related disease characterized by an imbalance in bone homeostasis, increasing the risk of fractures. Twin and family studies have shown that bone mineral density (BMD) variance is in part genetically determined and osteoporotic fractures have also a heritable component. Over the last years, a series of genome-wide association studies (GWAS) and meta-analysises evidenced several loci associated with BMD at genome-wide significance, clustering within the RANK-RANKL-OPG and WNT signaling pathways but also in the mesenchymal stem cell differentiation or endochondral ossification systems. Some of these BMDassociated loci were also significantly associated with risk of fracture, including 17q21.31 (SOST), 11q13.2 (LRP5), 10q21.1 (DKK1), 1p36.12 (WNT4) and 7q31.31 (WNT16), whereas SNPs in genes of the RANK-RANKLOPG pathway (TNFRSF11A, TNFSF11, TNFRSF11B) were associated with BMD only. These data provide key insights into the pathophysiological mechanisms of the disease and may contribute to the identification of new drug targets for the treatment of osteoporosis, beyond previously available therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2013