Literature DB >> 23249833

Genetic epidemiology of osteoarthritis: recent developments and future directions.

Marc C Hochberg1, Laura Yerges-Armstrong, Michelle Yau, Braxton D Mitchell.   

Abstract

PURPOSE OF REVIEW: Despite the high prevalence of osteoarthritis and its enormous public health impact, the cause of the disease remains largely obscure. The identification of genes associated with osteoarthritis can help reveal underlying biological mechanisms that may lead to development of new therapeutic targets or biomarkers for early detection and risk stratification. The goal of this short review is to provide a brief overview of the current status of genetics of osteoarthritis with an emphasis on developments generated in the last year. RECENT
FINDINGS: This review focuses on the following areas: identification of new genes through genetic association studies, including genome-wide association studies; family-based studies and extreme osteoarthritis phenotypes; endophenotypes and pain; and overlap of osteoarthritis with other age-related disorders.
SUMMARY: Although recent genetic discoveries have produced innovative findings with respect to the pathophysiology of osteoarthritis, we have yet to realize new treatments to improve the quality of life of patients with osteoarthritis.

Entities:  

Mesh:

Year:  2013        PMID: 23249833      PMCID: PMC3771580          DOI: 10.1097/BOR.0b013e32835cfb8e

Source DB:  PubMed          Journal:  Curr Opin Rheumatol        ISSN: 1040-8711            Impact factor:   5.006


  44 in total

1.  Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

Authors:  A Bouhouche; A Benomar; N Bouslam; T Chkili; M Yahyaoui
Journal:  J Med Genet       Date:  2006-01-06       Impact factor: 6.318

2.  A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility.

Authors:  Kay Chapman; Atsushi Takahashi; Ingrid Meulenbelt; Chris Watson; Julio Rodriguez-Lopez; Rainer Egli; Aspasia Tsezou; Konstantinos N Malizos; Margreet Kloppenburg; Dongquan Shi; Lorraine Southam; Ruud van der Breggen; Rachelle Donn; Jianghui Qin; Michael Doherty; P Eline Slagboom; Gillian Wallis; Naoyuki Kamatani; Qing Jiang; Antonio Gonzalez; John Loughlin; Shiro Ikegawa
Journal:  Hum Mol Genet       Date:  2008-02-24       Impact factor: 6.150

3.  Genetic influences on osteoarthritis in women: a twin study.

Authors:  T D Spector; F Cicuttini; J Baker; J Loughlin; D Hart
Journal:  BMJ       Date:  1996-04-13

4.  A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.

Authors:  Yoshinari Miyamoto; Akihiko Mabuchi; Dongquan Shi; Toshikazu Kubo; Yoshio Takatori; Susumu Saito; Mikihiro Fujioka; Akihiro Sudo; Atsumasa Uchida; Seizo Yamamoto; Koichi Ozaki; Masaharu Takigawa; Toshihiro Tanaka; Yusuke Nakamura; Qing Jiang; Shiro Ikegawa
Journal:  Nat Genet       Date:  2007-03-25       Impact factor: 38.330

Review 5.  The genetic epidemiology of human primary osteoarthritis: current status.

Authors:  John Loughlin
Journal:  Expert Rev Mol Med       Date:  2005-05-24       Impact factor: 5.600

6.  Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II.

Authors:  Reva C Lawrence; David T Felson; Charles G Helmick; Lesley M Arnold; Hyon Choi; Richard A Deyo; Sherine Gabriel; Rosemarie Hirsch; Marc C Hochberg; Gene G Hunder; Joanne M Jordan; Jeffrey N Katz; Hilal Maradit Kremers; Frederick Wolfe
Journal:  Arthritis Rheum       Date:  2008-01

Review 7.  OARSI recommendations for the management of hip and knee osteoarthritis, Part II: OARSI evidence-based, expert consensus guidelines.

Authors:  W Zhang; R W Moskowitz; G Nuki; S Abramson; R D Altman; N Arden; S Bierma-Zeinstra; K D Brandt; P Croft; M Doherty; M Dougados; M Hochberg; D J Hunter; K Kwoh; L S Lohmander; P Tugwell
Journal:  Osteoarthritis Cartilage       Date:  2008-02       Impact factor: 6.576

8.  Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.

Authors:  Evangelos Evangelou; Kay Chapman; Ingrid Meulenbelt; Fotini B Karassa; John Loughlin; Andrew Carr; Michael Doherty; Sally Doherty; Juan J Gómez-Reino; Antonio Gonzalez; Bjarni V Halldorsson; Valdimar B Hauksson; Albert Hofman; Deborah J Hart; Shiro Ikegawa; Thorvaldur Ingvarsson; Qing Jiang; Ingileif Jonsdottir; Helgi Jonsson; Hanneke J M Kerkhof; Margreet Kloppenburg; Nancy E Lane; Jia Li; Rik J Lories; Joyce B J van Meurs; Annu Näkki; Michael C Nevitt; Julio Rodriguez-Lopez; Dongquan Shi; P Eline Slagboom; Kari Stefansson; Aspasia Tsezou; Gillian A Wallis; Christopher M Watson; Tim D Spector; Andre G Uitterlinden; Ana M Valdes; John P A Ioannidis
Journal:  Arthritis Rheum       Date:  2009-06

9.  An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.

Authors:  Lorraine Southam; Julio Rodriguez-Lopez; James M Wilkins; Manuel Pombo-Suarez; Sarah Snelling; Juan J Gomez-Reino; Kay Chapman; Antonio Gonzalez; John Loughlin
Journal:  Hum Mol Genet       Date:  2007-07-06       Impact factor: 6.150

10.  Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

Authors:  Katherine S Elliott; Kay Chapman; Aaron Day-Williams; Kalliope Panoutsopoulou; Lorraine Southam; Cecilia M Lindgren; Nigel Arden; Nadim Aslam; Fraser Birrell; Ian Carluke; Andrew Carr; Panos Deloukas; Michael Doherty; John Loughlin; Andrew McCaskie; William E R Ollier; Ashok Rai; Stuart Ralston; Mike R Reed; Timothy D Spector; Ana M Valdes; Gillian A Wallis; Mark Wilkinson; Eleftheria Zeggini
Journal:  Ann Rheum Dis       Date:  2012-09-06       Impact factor: 19.103

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  20 in total

1.  Incidence and prevalence of total joint replacements due to osteoarthritis in the elderly: risk factors and factors associated with late life prevalence in the AGES-Reykjavik Study.

Authors:  Helgi Jonsson; Sigurbjorg Olafsdottir; Solveig Sigurdardottir; Thor Aspelund; Gudny Eiriksdottir; Sigurdur Sigurdsson; Tamara B Harris; Lenore Launer; Vilmundur Gudnason
Journal:  BMC Musculoskelet Disord       Date:  2016-01-12       Impact factor: 2.362

Review 2.  Predictors of Osteoarthritis Pain: the Importance of Resilience.

Authors:  Emily J Bartley; Shreela Palit; Roland Staud
Journal:  Curr Rheumatol Rep       Date:  2017-09       Impact factor: 4.592

3.  Identifying the hub gene and immune infiltration of osteoarthritis by bioinformatical methods.

Authors:  Chengmao Zhao
Journal:  Clin Rheumatol       Date:  2020-08-12       Impact factor: 2.980

4.  Association of TGFB1 29C/T and IL6 -572G/C polymorphisms with developmental hip dysplasia: a case-control study in adults with severe osteoarthritis.

Authors:  Tomislav Čengić; Vladimir Trkulja; Sandra Kraljević Pavelić; Ivana Ratkaj; Elitza Markova-Car; Michele Mikolaučić; Robert Kolundžić
Journal:  Int Orthop       Date:  2015-01-22       Impact factor: 3.075

Review 5.  Inflammaging and Osteoarthritis.

Authors:  Francesca Motta; Elisa Barone; Antonio Sica; Carlo Selmi
Journal:  Clin Rev Allergy Immunol       Date:  2022-06-18       Impact factor: 8.667

6.  Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects.

Authors:  Feng Pan; Jing Tian; Tania Winzenberg; Changhai Ding; Graeme Jones
Journal:  BMC Musculoskelet Disord       Date:  2014-12-02       Impact factor: 2.362

7.  A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.

Authors:  Sanghoon Moon; Bhumsuk Keam; Mi Yeong Hwang; Young Lee; Suyeon Park; Ji Hee Oh; Yeon-Jung Kim; Heun-Sik Lee; Nam Hee Kim; Young Jin Kim; Dong-Hyun Kim; Bok-Ghee Han; Bong-Jo Kim; Juyoung Lee
Journal:  BMC Musculoskelet Disord       Date:  2015-04-04       Impact factor: 2.362

8.  Association between GDF5 +104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies.

Authors:  Dong Jiang; Zengtao Hao; Dongsheng Fan; Wen Guo; Pengcheng Xu; Chao Yin; Shuzheng Wen; Jihong Wang
Journal:  J Orthop Surg Res       Date:  2016-09-23       Impact factor: 2.359

9.  Lubricin restoration in a mouse model of congenital deficiency.

Authors:  Adele Hill; Kimberly A Waller; Yajun Cui; Justin M Allen; Patrick Smits; Ling X Zhang; Ugur M Ayturk; Steven Hann; Samantha G Lessard; David Zurakowski; Matthew L Warman; Gregory D Jay
Journal:  Arthritis Rheumatol       Date:  2015-11       Impact factor: 10.995

10.  Translation of clinical problems in osteoarthritis into pathophysiological research goals.

Authors:  Peter M van der Kraan; Francis Berenbaum; Francisco J Blanco; de Bari Cosimo; Floris Lafeber; Ellen Hauge; Adele Higginbottom; Andreea Ioan-Facsinay; John Loughlin; Ingrid Meulenbelt; Eeva Moilanen; Irene Pitsillidou; Aspasia Tsezou; Joyce van Meurs; Tonia Vincent; Ruth Wittoek; Rik Lories
Journal:  RMD Open       Date:  2016-05-26
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