Analysis of genetics and DNA methylation in osteoarthritis: What have we learnt about the disease?

被引：61

作者：

Reynard, Louise N. ^{[1
]}

机构：

[1] Newcastle Univ, Inst Cellular Med, Musculoskeletal Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2017年 / 62卷

关键词：

Osteoarthritis; Cartilage; Genetics; Epigenetics; DNA methylation; SUSCEPTIBILITY LOCUS; EPIGENETIC REGULATION; KNEE OSTEOARTHRITIS; EXPRESSION ANALYSIS; CPG SITES; INCREASES SUSCEPTIBILITY; ARTICULAR CHONDROCYTES; ALLELIC EXPRESSION; WIDE ASSOCIATION; COMMON VARIANTS;

D O I：

10.1016/j.semcdb.2016.04.017

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Osteoarthritis (OA) is a chronic musculoskeletal disease characterised by the destruction of articular cartilage, synovial inflammation and bone remodelling. Disease aetiology is complex and highly heritable, with genetic variation estimated to contribute to 50% of OA occurrence. Epigenetic alterations, including DNA methylation changes, have also been implicated in OA pathophysiology. This review examines what genetic and DNA methylation studies have taught us about the genes and pathways involved in OA pathology. The influence of DNA methylation on the molecular mechanisms underlying OA genetic risk and the consequence of this interaction on disease susceptibility and penetrance are also discussed. (C) 2016 The Author. Published by Elsevier Ltd.

引用

页码：57 / 66

页数：10

共 98 条

[1] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[2]

Alvarez-Garcia O.F.K., 2016, ARTHRITIS RHEUMATOLO

[3] Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis [J].

Aref-Eshghi, Erfan ;

Zhang, Yuhua ;

Liu, Ming ;

Harper, Patricia E. ;

Martin, Glynn ;

Furey, Andrew ;

Green, Roger ;

Sun, Guang ;

Rahman, Proton ;

Zhai, Guangju .

BMC MUSCULOSKELETAL DISORDERS, 2015, 16

[4] DNA Demethylation Dynamics [J].

Bhutani, Nidhi ;

Burns, David M. ;

Blau, Helen M. .

CELL, 2011, 146 (06) :866-872

[5] Perceptions of epigenetics [J].

Bird, Adrian .

NATURE, 2007, 447 (7143) :396-398

[6] The effect of forced exercise on knee joints in Dio2-/- mice: type II iodothyronine deiodinase-deficient mice are less prone to develop OA-like cartilage damage upon excessive mechanical stress [J].

Bomer, Nils ;

Cornelis, Frederique M. F. ;

Ramos, Yolande F. M. ;

den Hollander, Wouter ;

Storms, Lies ;

van der Breggen, Ruud ;

Lakenberg, Nico ;

Slagboom, P. Eline ;

Meulenbelt, Ingrid ;

Lories, Rik J. L. .

ANNALS OF THE RHEUMATIC DISEASES, 2016, 75 (03) :571-577

[7] Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis [J].

Bomer, Nils ;

den Hollander, Wouter ;

Ramos, Yolande F. M. ;

Bos, Steffan D. ;

van der Breggen, Ruud ;

Lakenberg, Nico ;

Pepers, Barry A. ;

van Eeden, Annelies E. ;

Darvishan, Arash ;

Tobi, Elmar W. ;

Duijnisveld, Bouke J. ;

van den Akker, Erik B. ;

Heijmans, Bastiaan T. ;

van Roon-Mom, Willeke M. C. ;

Verbeek, Fons J. ;

van Osch, Gerjo J. V. M. ;

Nelissen, Rob G. H. H. ;

Slagboom, P. Eline ;

Meulenbelt, Ingrid .

ANNALS OF THE RHEUMATIC DISEASES, 2015, 74 (08) :1571-1579

[8] Identification of differentially methylated regions in new genes associated with knee osteoarthritis [J].

Bonin, Carolina A. ;

Lewallen, Eric A. ;

Baheti, Saurabh ;

Bradley, Elizabeth W. ;

Stuart, Michael J. ;

Berry, Daniel J. ;

van Wijnen, Andre J. ;

Westendorf, Jennifer J. .

GENE, 2016, 576 (01) :312-318

[9] Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues [J].

Bos, Steffan D. ;

Bovee, Judith V. M. G. ;

Duijnisveld, Bouke J. ;

Raine, Emma V. A. ;

Dalen, Wouter Jvan ;

Ramos, Yolande F. M. ;

van der Breggen, Ruud ;

Nelissen, Rob G. H. H. ;

Slagboom, P. Eline ;

Loughlin, John ;

Meulenbelt, Ingrid .

ANNALS OF THE RHEUMATIC DISEASES, 2012, 71 (07) :1254-1258

[10] New insights into osteoarthritis: early developmental features of an ageing-related disease [J].

Bos, Steffan Daniel ;

Slagboom, P. Eline ;

Meulenbelt, Ingrid .

CURRENT OPINION IN RHEUMATOLOGY, 2008, 20 (05) :553-559

← 1 2 3 4 5 6 7 8 9 10 →