Literature DB >> 28569263

The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping.

Stephen Eyre1, Gisela Orozco1, Jane Worthington1,2.   

Abstract

Susceptibility to rheumatic diseases, such as osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus, juvenile idiopathic arthritis and psoriatic arthritis, includes a large genetic component. Understanding how an individual's genetic background influences disease onset and outcome can lead to a better understanding of disease biology, improved diagnosis and treatment, and, ultimately, to disease prevention or cure. The past decade has seen great progress in the identification of genetic variants that influence the risk of rheumatic diseases. The challenging task of unravelling the function of these variants is ongoing. In this Review, the major insights from genetic studies, gained from advances in technology, bioinformatics and study design, are discussed in the context of rheumatic disease. In addition, pivotal genetic studies in the main rheumatic diseases are highlighted, with insights into how these studies have changed the way we view these conditions in terms of disease overlap, pathways of disease and potential new therapeutic targets. Finally, the limitations of genetic studies, gaps in our knowledge and ways in which current genetic knowledge can be fully translated into clinical benefit are examined.

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Year:  2017        PMID: 28569263     DOI: 10.1038/nrrheum.2017.80

Source DB:  PubMed          Journal:  Nat Rev Rheumatol        ISSN: 1759-4790            Impact factor:   20.543


  128 in total

1.  Validation in genetic association studies.

Authors:  Inke R König
Journal:  Brief Bioinform       Date:  2011-05       Impact factor: 11.622

Review 2.  The role of regulatory variation in complex traits and disease.

Authors:  Frank W Albert; Leonid Kruglyak
Journal:  Nat Rev Genet       Date:  2015-02-24       Impact factor: 53.242

3.  Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes.

Authors:  Ana M Valdes; Daniel McWilliams; Nigel K Arden; Sally A Doherty; Margaret Wheeler; Kenneth R Muir; Weiya Zhang; Cyrus Cooper; Rose A Maciewicz; Michael Doherty
Journal:  Arthritis Rheum       Date:  2010-09

4.  ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients.

Authors:  Philip C Robinson; Mary-Ellen Costello; Paul Leo; Linda A Bradbury; Kelly Hollis; Adrian Cortes; Seunghun Lee; Kyung Bin Joo; Seung-Cheol Shim; Michael Weisman; Michael Ward; Xiaodong Zhou; Henri-Jean Garchon; Gilles Chiocchia; Johannes Nossent; Benedicte A Lie; Øystein Førre; Jaakko Tuomilehto; Kari Laiho; Lei Jiang; Yu Liu; Xin Wu; Dirk Elewaut; Ruben Burgos-Vargas; Lianne S Gensler; Simon Stebbings; Nigil Haroon; Juan Mulero; Jose Luis Fernandez-Sueiro; Miguel A Gonzalez-Gay; Carlos Lopez-Larrea; Paul Bowness; Karl Gafney; John S Hill Gaston; Dafna D Gladman; Proton Rahman; Walter P Maksymowych; Huji Xu; Irene E van der Horst-Bruinsma; Chung-Tei Chou; Raphael Valle-Oñate; María Consuelo Romero-Sánchez; Inger Myrnes Hansen; Fernando M Pimentel-Santos; Robert D Inman; Javier Martin; Maxime Breban; David Evans; John D Reveille; Tae-Hwan Kim; B Paul Wordsworth; Matthew A Brown
Journal:  Ann Rheum Dis       Date:  2015-04-27       Impact factor: 19.103

5.  A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

Authors:  Ann B Begovich; Victoria E H Carlton; Lee A Honigberg; Steven J Schrodi; Anand P Chokkalingam; Heather C Alexander; Kristin G Ardlie; Qiqing Huang; Ashley M Smith; Jill M Spoerke; Marion T Conn; Monica Chang; Sheng-Yung P Chang; Randall K Saiki; Joseph J Catanese; Diane U Leong; Veronica E Garcia; Linda B McAllister; Douglas A Jeffery; Annette T Lee; Franak Batliwalla; Elaine Remmers; Lindsey A Criswell; Michael F Seldin; Daniel L Kastner; Christopher I Amos; John J Sninsky; Peter K Gregersen
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

6.  A pleiotropy-informed Bayesian false discovery rate adapted to a shared control design finds new disease associations from GWAS summary statistics.

Authors:  James Liley; Chris Wallace
Journal:  PLoS Genet       Date:  2015-02-06       Impact factor: 5.917

Review 7.  Biologic monotherapy in the treatment of rheumatoid arthritis.

Authors:  Jacqueline Detert; Pascal Klaus
Journal:  Biologics       Date:  2015-05-14

8.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

9.  Integrative analysis of 111 reference human epigenomes.

Authors:  Anshul Kundaje; Wouter Meuleman; Jason Ernst; Misha Bilenky; Angela Yen; Alireza Heravi-Moussavi; Pouya Kheradpour; Zhizhuo Zhang; Jianrong Wang; Michael J Ziller; Viren Amin; John W Whitaker; Matthew D Schultz; Lucas D Ward; Abhishek Sarkar; Gerald Quon; Richard S Sandstrom; Matthew L Eaton; Yi-Chieh Wu; Andreas R Pfenning; Xinchen Wang; Melina Claussnitzer; Yaping Liu; Cristian Coarfa; R Alan Harris; Noam Shoresh; Charles B Epstein; Elizabeta Gjoneska; Danny Leung; Wei Xie; R David Hawkins; Ryan Lister; Chibo Hong; Philippe Gascard; Andrew J Mungall; Richard Moore; Eric Chuah; Angela Tam; Theresa K Canfield; R Scott Hansen; Rajinder Kaul; Peter J Sabo; Mukul S Bansal; Annaick Carles; Jesse R Dixon; Kai-How Farh; Soheil Feizi; Rosa Karlic; Ah-Ram Kim; Ashwinikumar Kulkarni; Daofeng Li; Rebecca Lowdon; GiNell Elliott; Tim R Mercer; Shane J Neph; Vitor Onuchic; Paz Polak; Nisha Rajagopal; Pradipta Ray; Richard C Sallari; Kyle T Siebenthall; Nicholas A Sinnott-Armstrong; Michael Stevens; Robert E Thurman; Jie Wu; Bo Zhang; Xin Zhou; Arthur E Beaudet; Laurie A Boyer; Philip L De Jager; Peggy J Farnham; Susan J Fisher; David Haussler; Steven J M Jones; Wei Li; Marco A Marra; Michael T McManus; Shamil Sunyaev; James A Thomson; Thea D Tlsty; Li-Huei Tsai; Wei Wang; Robert A Waterland; Michael Q Zhang; Lisa H Chadwick; Bradley E Bernstein; Joseph F Costello; Joseph R Ecker; Martin Hirst; Alexander Meissner; Aleksandar Milosavljevic; Bing Ren; John A Stamatoyannopoulos; Ting Wang; Manolis Kellis
Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504

10.  Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.

Authors:  Anne Barton; Wendy Thomson; Xiayi Ke; Steve Eyre; Anne Hinks; John Bowes; Darren Plant; Laura J Gibbons; Anthony G Wilson; Deborah E Bax; Ann W Morgan; Paul Emery; Sophia Steer; Lynne Hocking; David M Reid; Paul Wordsworth; Pille Harrison; Jane Worthington
Journal:  Nat Genet       Date:  2008-09-14       Impact factor: 38.330

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  11 in total

Review 1.  Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis.

Authors:  Marialbert Acosta-Herrera; Elena López-Isac; Javier Martín
Journal:  Curr Rheumatol Rep       Date:  2019-07-15       Impact factor: 4.592

2.  Immunome perturbation is present in patients with juvenile idiopathic arthritis who are in remission and will relapse upon anti-TNFα withdrawal.

Authors:  Jing Yao Leong; Phyllis Chen; Joo Guan Yeo; Fauziah Ally; Camillus Chua; Sharifah Nur Hazirah; Su Li Poh; Lu Pan; Liyun Lai; Elene Seck Choon Lee; Loshinidevi D/O Thana Bathi; Thaschawee Arkachaisri; Daniel Lovell; Salvatore Albani
Journal:  Ann Rheum Dis       Date:  2019-09-20       Impact factor: 19.103

Review 3.  Nonendocrine mechanisms of sex bias in rheumatic diseases.

Authors:  Nathalie C Lambert
Journal:  Nat Rev Rheumatol       Date:  2019-10-09       Impact factor: 20.543

Review 4.  Genetics of immune-mediated inflammatory diseases.

Authors:  T David; S F Ling; A Barton
Journal:  Clin Exp Immunol       Date:  2018-02-02       Impact factor: 4.330

Review 5.  An introduction to machine learning and analysis of its use in rheumatic diseases.

Authors:  Kathryn M Kingsmore; Christopher E Puglisi; Amrie C Grammer; Peter E Lipsky
Journal:  Nat Rev Rheumatol       Date:  2021-11-02       Impact factor: 20.543

6.  Molecular Portraits of Early Rheumatoid Arthritis Identify Clinical and Treatment Response Phenotypes.

Authors:  Myles J Lewis; Michael R Barnes; Kevin Blighe; Katriona Goldmann; Sharmila Rana; Jason A Hackney; Nandhini Ramamoorthi; Christopher R John; David S Watson; Sarah K Kummerfeld; Rebecca Hands; Sudeh Riahi; Vidalba Rocher-Ros; Felice Rivellese; Frances Humby; Stephen Kelly; Michele Bombardieri; Nora Ng; Maria DiCicco; Désirée van der Heijde; Robert Landewé; Annette van der Helm-van Mil; Alberto Cauli; Iain B McInnes; Christopher D Buckley; Ernest Choy; Peter C Taylor; Michael J Townsend; Costantino Pitzalis
Journal:  Cell Rep       Date:  2019-08-27       Impact factor: 9.423

7.  Chromatin interactions reveal novel gene targets for drug repositioning in rheumatic diseases.

Authors:  Paul Martin; James Ding; Kate Duffus; Vasanthi Priyadarshini Gaddi; Amanda McGovern; Helen Ray-Jones; Annie Yarwood; Jane Worthington; Anne Barton; Gisela Orozco
Journal:  Ann Rheum Dis       Date:  2019-05-15       Impact factor: 19.103

8.  Associations between adipokines gene polymorphisms and knee osteoarthritis: a meta-analysis.

Authors:  Yuqing Wang; Fanqiang Meng; Jing Wu; Huizhong Long; Jiatian Li; Ziying Wu; Hongyi He; Haochen Wang; Ning Wang; Dongxing Xie
Journal:  BMC Musculoskelet Disord       Date:  2022-02-22       Impact factor: 2.362

Review 9.  How does age determine the development of human immune-mediated arthritis?

Authors:  Yannick Degboe; Sebastiaan J Vastert; Berent J Prakken; Iain B McInnes
Journal:  Nat Rev Rheumatol       Date:  2022-08-10       Impact factor: 32.286

10.  Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.

Authors:  Lourdes Ortiz-Fernández; Francisco David Carmona; Raquel López-Mejías; Maria Francisca González-Escribano; Paul A Lyons; Ann W Morgan; Amr H Sawalha; Peter A Merkel; Kenneth G C Smith; Miguel A González-Gay; Javier Martín
Journal:  Ann Rheum Dis       Date:  2018-01-27       Impact factor: 19.103

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