Literature DB >> 29623390

The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?

Masaru Kato1, Shinsuke Yasuda2, Tatsuya Atsumi2.   

Abstract

To date, numerous genetic and epigenetic studies have been performed and provided a crucial step forward in our understanding of the pathogenesis of rheumatic diseases. However, most of the recent advances in the treatment of rheumatic diseases including biological therapies are not based on or even discrepant from these genetic and epigenetic findings. For example, tumor necrosis factor inhibitors are quite successful in the treatment of rheumatoid arthritis (RA), Behçet's disease (BD), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) but not in that of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren's syndrome (SS) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV), conversely, RA shares genetic backgrounds more with SLE, SSc, SS and AAV than BD, AS and PsA. In this review, we briefly highlight the findings from recent genetic and epigenetic studies and discuss what needs to be studied to provide a novel, more efficacious management of rheumatic diseases.

Entities:  

Keywords:  Epigenetics; GWAS; Genetics; Rheumatic diseases

Mesh:

Substances:

Year:  2018        PMID: 29623390     DOI: 10.1007/s00296-018-4026-0

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN: 0172-8172            Impact factor:   2.631


  38 in total

1.  MicroRNA-21 and microRNA-148a contribute to DNA hypomethylation in lupus CD4+ T cells by directly and indirectly targeting DNA methyltransferase 1.

Authors:  Wen Pan; Shu Zhu; Min Yuan; Huijuan Cui; Lijia Wang; Xiaobing Luo; Jia Li; Haibo Zhou; Yuanjia Tang; Nan Shen
Journal:  J Immunol       Date:  2010-05-17       Impact factor: 5.422

2.  Decreased Ras-mitogen-activated protein kinase signaling may cause DNA hypomethylation in T lymphocytes from lupus patients.

Authors:  C Deng; M J Kaplan; J Yang; D Ray; Z Zhang; W J McCune; S M Hanash; B C Richardson
Journal:  Arthritis Rheum       Date:  2001-02

3.  Demethylation of the same promoter sequence increases CD70 expression in lupus T cells and T cells treated with lupus-inducing drugs.

Authors:  Qianjin Lu; Ailing Wu; Bruce C Richardson
Journal:  J Immunol       Date:  2005-05-15       Impact factor: 5.422

4.  Defective expression of Ras guanyl nucleotide-releasing protein 1 in a subset of patients with systemic lupus erythematosus.

Authors:  Shinsuke Yasuda; Richard L Stevens; Tomoko Terada; Masumi Takeda; Toko Hashimoto; Jun Fukae; Tetsuya Horita; Hiroshi Kataoka; Tatsuya Atsumi; Takao Koike
Journal:  J Immunol       Date:  2007-10-01       Impact factor: 5.422

5.  Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.

Authors:  Akari Suzuki; Ryo Yamada; Xiaotian Chang; Shinya Tokuhiro; Tetsuji Sawada; Masakatsu Suzuki; Miyuki Nagasaki; Makiko Nakayama-Hamada; Reimi Kawaida; Mitsuru Ono; Masahiko Ohtsuki; Hidehiko Furukawa; Shinichi Yoshino; Masao Yukioka; Shigeto Tohma; Tsukasa Matsubara; Shigeyuki Wakitani; Ryota Teshima; Yuichi Nishioka; Akihiro Sekine; Aritoshi Iida; Atsushi Takahashi; Tatsuhiko Tsunoda; Yusuke Nakamura; Kazuhiko Yamamoto
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

6.  DNA hypomethylation in rheumatoid arthritis synovial fibroblasts.

Authors:  Emmanuel Karouzakis; Renate E Gay; Beat A Michel; Steffen Gay; Michel Neidhart
Journal:  Arthritis Rheum       Date:  2009-12

7.  Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Authors:  Ira Surolia; Stephan P Pirnie; Vasant Chellappa; Kendra N Taylor; Annaiah Cariappa; Jesse Moya; Haoyuan Liu; Daphne W Bell; David R Driscoll; Sven Diederichs; Khaleda Haider; Ilka Netravali; Sheila Le; Roberto Elia; Ethan Dow; Annette Lee; Jan Freudenberg; Philip L De Jager; Yves Chretien; Ajit Varki; Marcy E MacDonald; Tammy Gillis; Timothy W Behrens; Donald Bloch; Deborah Collier; Joshua Korzenik; Daniel K Podolsky; David Hafler; Mandakolathur Murali; Bruce Sands; John H Stone; Peter K Gregersen; Shiv Pillai
Journal:  Nature       Date:  2010-06-16       Impact factor: 49.962

8.  Histone deacetylase/acetylase activity in total synovial tissue derived from rheumatoid arthritis and osteoarthritis patients.

Authors:  Lars C Huber; Matthias Brock; Hossein Hemmatazad; Olivier T Giger; Falk Moritz; Michelle Trenkmann; Jörg H W Distler; Renate E Gay; Christoph Kolling; Holger Moch; Beat A Michel; Steffen Gay; Oliver Distler; Astrid Jüngel
Journal:  Arthritis Rheum       Date:  2007-04

9.  Demethylation of CD40LG on the inactive X in T cells from women with lupus.

Authors:  Qianjin Lu; Ailing Wu; Laura Tesmer; Donna Ray; Neda Yousif; Bruce Richardson
Journal:  J Immunol       Date:  2007-11-01       Impact factor: 5.422

10.  A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

Authors:  Leonid Padyukov; Mark Seielstad; Rick T H Ong; Bo Ding; Johan Rönnelid; Maria Seddighzadeh; Lars Alfredsson; Lars Klareskog
Journal:  Ann Rheum Dis       Date:  2010-12-14       Impact factor: 19.103

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  4 in total

Review 1.  Microbiome Changes in Connective Tissue Diseases and Vasculitis: Focus on Metabolism and Inflammation.

Authors:  Lidia La Barbera; Federica Macaluso; Serena Fasano; Giulia Grasso; Francesco Ciccia; Giuliana Guggino
Journal:  Int J Mol Sci       Date:  2022-06-10       Impact factor: 6.208

2.  Risk of immune-mediated inflammatory diseases in newly diagnosed ankylosing spondylitis patients: a population-based matched cohort study.

Authors:  Hsin-Hua Chen; Wen-Cheng Chao; Yi-Hsing Chen; Tsu-Yi Hsieh; Kuo-Lung Lai; Yi-Ming Chen; Wei-Ting Hung; Ching-Tsai Lin; Chih-Wei Tseng; Ching-Heng Lin
Journal:  Arthritis Res Ther       Date:  2019-08-29       Impact factor: 5.156

Review 3.  Microbial Agents as Putative Inducers of B Cell Lymphoma in Sjögren's Syndrome through an Impaired Epigenetic Control: The State-of-The-Art.

Authors:  Rossella Talotta; Piercarlo Sarzi-Puttini; Fabiola Atzeni
Journal:  J Immunol Res       Date:  2019-01-06       Impact factor: 4.818

4.  Genetic Polymorphisms of Toll-like receptors 2 and 9 as Susceptibility Factors for the Development of Ankylosing Spondylitis and Psoriatic Arthritis.

Authors:  Camila F Oliveira-Toré; Amarilis G Moraes; Gabriela F Martinez; Janisleya S F Neves; Luciana C Macedo; Marco A Rocha-Loures; Marília G Quirino; Hugo V Alves; Ana M Sell; Jeane E L Visentainer
Journal:  J Immunol Res       Date:  2019-10-30       Impact factor: 4.818

  4 in total

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