Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.

@article{Betancourt2012GenomewideAA,
  title={Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.},
  author={Martha C Casta{\~n}o Betancourt and Frederic Cailotto and Hanneke J M Kerkhof and Frederique M. F. Cornelis and Sally A. Doherty and Deborah J. Hart and Albert Hofman and Frank P. Luyten and Rose A. Maciewicz and Massimo Mangino and Sarah Jane Metrustry and Kenneth Ross Muir and Marjolein J. Peters and Fernando Rivadeneira and Maggie Wheeler and Weiya Zhang and Nigel K Arden and Tim D. Spector and Andr{\'e} G. Uitterlinden and Michael Doherty and Rik J. U. Lories and Ana M Valdes and Joyce B. J. van Meurs},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2012},
  volume={109 21},
  pages={8218-23}
}
Hip osteoarthritis (HOA) is one of the most disabling and common joint disorders with a large genetic component that is, however, still ill-defined. To date, genome-wide association studies (GWAS) in osteoarthritis (OA) and specifically in HOA have yielded only few loci, which is partly explained by heterogeneity in the OA definition. Therefore, we here focused on radiographically measured joint-space width (JSW), a proxy for cartilage thickness and an important underlying intermediate trait… CONTINUE READING