Insights into rheumatic diseases from next-generation sequencing

被引：27

作者：

Donlin, Laura T. ^{[1
,2
,3
]}

Park, Sung-Ho ^{[1
,2
]}

Giannopoulou, Eugenia ^{[1
,2
,4
]}

Ivovic, Aleksandra ^{[5
]}

Park-Min, Kyung-Hyun ^{[1
,2
,3
]}

Siegel, Richard M. ^{[5
]}

Ivashkiv, Lionel B. ^{[1
,2
,3
,6
]}

机构：

[1] Hosp Special Surg, Arthrit & Tissue Degenerat Program, 535 E 70th St, New York, NY 10021 USA

[2] Hosp Special Surg, David Z Rosensweig Genom Res Ctr, 535 E 70th St, New York, NY 10021 USA

[3] Weill Cornell Med, Dept Med, New York, NY 10065 USA

[4] CUNY, Dept Biol Sci, New York City Coll Technol, New York, NY 10021 USA

[5] NIAMSD, Immunoregulat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA

[6] Weill Cornell Grad Sch Med Sci, Immunol & Microbial Pathogenesis Program, New York, NY 10065 USA

来源：

NATURE REVIEWS RHEUMATOLOGY | 2019年 / 15卷 / 06期

基金：

美国国家卫生研究院;

关键词：

DNA METHYLOME SIGNATURE; METHYLATION; ARTHRITIS; GENE; AUTOIMMUNE; CELLS; EPIGENETICS; SITES; RISK;

D O I：

10.1038/s41584-019-0217-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Rheumatic diseases have complex aetiologies that are not fully understood, which makes the study of pathogenic mechanisms in these diseases a challenge for researchers. Next-generation sequencing (NGS) and related omics technologies, such as transcriptomics, epigenomics and genomics, provide an unprecedented genome-wide view of gene expression, environmentally responsive epigenetic changes and genetic variation. The integrated application of NGS technologies to samples from carefully phenotyped clinical cohorts of patients has the potential to solve remaining mysteries in the pathogenesis of several rheumatic diseases, to identify new therapeutic targets and to underpin a precision medicine approach to the diagnosis and treatment of rheumatic diseases. This Review provides an overview of the NGS technologies available, showcases important advances in rheumatic disease research already powered by these technologies and highlights NGS approaches that hold particular promise for generating new insights and advancing the field.

引用

页码：327 / 339

页数：13

共 110 条

[1] Comprehensive epigenetic landscape of rheumatoid arthritis fibroblast-like synoviocytes [J].

Ai, Rizi ;

Laragione, Teresina ;

Hammaker, Deepa ;

Boyle, David L. ;

Wildberg, Andre ;

Maeshima, Keisuke ;

Palescandolo, Emanuele ;

Krishna, Vinod ;

Pocalyko, David ;

Whitaker, John W. ;

Bai, Yuchen ;

Nagpal, Sunil ;

Bachman, Kurtis E. ;

Ainsworth, Richard I. ;

Wang, Mengchi ;

Ding, Bo ;

Gulko, Percio S. ;

Wang, Wei ;

Firestein, Gary S. .

NATURE COMMUNICATIONS, 2018, 9

[2] DNA Methylome Signature in Synoviocytes From Patients With Early Rheumatoid Arthritis Compared to Synoviocytes From Patients With Longstanding Rheumatoid Arthritis [J].

Ai, Rizi ;

Whitaker, John W. ;

Boyle, David L. ;

Tak, Paul Peter ;

Gerlag, Danielle M. ;

Wang, Wei ;

Firestein, Gary S. .

ARTHRITIS & RHEUMATOLOGY, 2015, 67 (07) :1978-1980

[3]

Aksentijevich I, 1997, CELL, V90, P797

[4] The molecular hallmarks of epigenetic control [J].

Allis, C. David ;

Jenuwein, Thomas .

NATURE REVIEWS GENETICS, 2016, 17 (08) :487-500

[5] Epigenetic control of myeloid cell differentiation, identity and function [J].

Alvarez-Errico, Damiana ;

Vento-Tormo, Roser ;

Sieweke, Michael ;

Ballestar, Esteban .

NATURE REVIEWS IMMUNOLOGY, 2015, 15 (01) :7-17

[6]

Arazi A., 2019, NAT IMMUNOL

[7] New insights into the epigenetics of inflammatory rheumatic diseases [J].

Ballestar, Esteban ;

Li, Tianlu .

NATURE REVIEWS RHEUMATOLOGY, 2017, 13 (10) :593-605

[8] Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics [J].

Banchereau, Romain ;

Cepika, Alma-Martina ;

Banchereau, Jacques ;

Pascual, Virginia .

ANNUAL REVIEW OF IMMUNOLOGY, VOL 35, 2017, 35 :337-370

[9] Personalized Immunomonitoring Uncovers Molecular Networks that Stratify Lupus Patients [J].

Banchereau, Romain ;

Hong, Seunghee ;

Cantarel, Brandi ;

Baldwin, Nicole ;

Baisch, Jeanine ;

Edens, Michelle ;

Cepika, Alma-Martina ;

Acs, Peter ;

Turner, Jacob ;

Anguiano, Esperanza ;

Vinod, Parvathi ;

Kahn, Shaheen ;

Obermoser, Gerlinde ;

Blankenship, Derek ;

Wakeland, Edward ;

Nassi, Lorien ;

Gotte, Alisa ;

Punaro, Marilynn ;

Liu, Yong-Jun ;

Banchereau, Jacques ;

Rossello-Urgell, Jose ;

Wright, Tracey ;

Pascual, Virginia .

CELL, 2016, 165 (03) :551-565

[10] Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [J].

Beaudoin, Melissa ;

Goyette, Philippe ;

Boucher, Gabrielle ;

Lo, Ken Sin ;

Rivas, Manuel A. ;

Stevens, Christine ;

Alikashani, Azadeh ;

Ladouceur, Martin ;

Ellinghaus, David ;

Torkvist, Leif ;

Goel, Gautam ;

Lagace, Caroline ;

Annese, Vito ;

Bitton, Alain ;

Begun, Jakob ;

Brant, Steve R. ;

Bresso, Francesca ;

Cho, Judy H. ;

Duerr, Richard H. ;

Halfvarson, Jonas ;

McGovern, Dermot P. B. ;

Radford-Smith, Graham ;

Schreiber, Stefan ;

Schumm, Philip L. ;

Sharma, Yashoda ;

Silverberg, Mark S. ;

Weersma, Rinse K. ;

D'Amato, Mauro ;

Vermeire, Severine ;

Franke, Andre ;

Lettre, Guillaume ;

Xavier, Ramnik J. ;

Daly, Mark J. ;

Rioux, John D. .

PLOS GENETICS, 2013, 9 (09)

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