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Osteoarthritis Cartilage. 2014 Dec;22(12):2017-24. doi: 10.1016/j.joca.2014.07.024. Epub 2014 Nov 22.

Osteoarthritis year in review 2014: genetics and genomics.

Author information

1
University of Thessaly, Faculty of Medicine, Dept. Biology, 41110 Larissa, Greece.

Abstract

Recent developments in genetics/genomics of osteoarthritis (OA) are discussed to improve our understanding of OA pathophysiology. The discovery of a novel variant near the NCOA3 (nuclear receptor coactivator 3) gene associated with hip OA and the regulation of GDF5 gene by four transcription factors via the OA susceptibility locus rs143383 are among important findings in OA genetics. Several microarray-based gene expression studies were published for different tissues of the joint. In OA synovium elevation of collagens and cross-linking enzymes (COL1A1, COL5A1, PLOD2, LOX and TIMP1) responsive to TGF-β was found as well as differential expression pattern between different areas of the osteoarthritic synovial membrane. In OA peripheral blood the role of apoptotic genes was highlighted, while whole genome expression profiling in OA subchondral bone and cartilage revealed common genes in cartilage and bone to be involved in OA development. In epigenetics, several microRNAs (miRNAs) were found to regulate genes' expression in chondrocytes, among which miR-125, miR-127b miR-21, miR-148a and their use as potential drug targets was highlighted. Future studies must focus on the integration of genetics, genomics and epigenetics for the identification of signaling pathways and regulatory networks responsible for OA development.

KEYWORDS:

Epigenetics; Functional genomics; Genetics; Osteoarthritis; Transcriptomics; microRNAs

PMID:
25456297
DOI:
10.1016/j.joca.2014.07.024
[Indexed for MEDLINE]
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