Literature DB >> 33317201

Approaching Shared Pathophysiology in Immune-Mediated Diseases through Functional Genomics.

David González-Serna1, Gonzalo Villanueva-Martin1, Marialbert Acosta-Herrera1, Ana Márquez1,2, Javier Martín1.   

Abstract

Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them. Nevertheless, the pathological mechanism behind these associations remains a challenge that has just started to be understood thanks to functional genomic approaches. Transcriptomics, regulatory elements, chromatin interactome, as well as the experimental characterization of genomic findings, constitute key elements in the emerging understandings of how genetics affects the etiopathogenesis of IMDs. In this review, we will focus on the latest advances in the field of functional genomics, centering our attention on systemic rheumatic IMDs.

Entities:  

Keywords:  GWAS; Hi-C; functional genomics; immune-mediated diseases; shared genetics; trancriptomics

Year:  2020        PMID: 33317201      PMCID: PMC7762979          DOI: 10.3390/genes11121482

Source DB:  PubMed          Journal:  Genes (Basel)        ISSN: 2073-4425            Impact factor:   4.096


  96 in total

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Authors:  Lara Bossini-Castillo; Gonzalo Villanueva-Martin; Martin Kerick; Marialbert Acosta-Herrera; Elena López-Isac; Carmen P Simeón; Norberto Ortego-Centeno; Shervin Assassi; Nicolas Hunzelmann; Armando Gabrielli; J K de Vries-Bouwstra; Yannick Allanore; Carmen Fonseca; Christopher P Denton; Timothy Rdj Radstake; Marta Eugenia Alarcón-Riquelme; Lorenzo Beretta; Maureen D Mayes; Javier Martin
Journal:  Ann Rheum Dis       Date:  2020-10-01       Impact factor: 19.103

2.  Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome highlight T cell-initiated autoimmunity.

Authors:  Yukai Wang; Shaoqi Chen; Jingyao Chen; Xuezhen Xie; Sini Gao; Chengpeng Zhang; Songxia Zhou; Jing Wang; Ruiqin Mai; Qisheng Lin; Jianqun Lin; Marco Matucci-Cerinic; Guohong Zhang; Daniel E Furst
Journal:  Ann Rheum Dis       Date:  2019-12-17       Impact factor: 19.103

Review 3.  IgH chain class switch recombination: mechanism and regulation.

Authors:  Janet Stavnezer; Carol E Schrader
Journal:  J Immunol       Date:  2014-12-01       Impact factor: 5.422

4.  Comprehensive mapping of long-range interactions reveals folding principles of the human genome.

Authors:  Erez Lieberman-Aiden; Nynke L van Berkum; Louise Williams; Maxim Imakaev; Tobias Ragoczy; Agnes Telling; Ido Amit; Bryan R Lajoie; Peter J Sabo; Michael O Dorschner; Richard Sandstrom; Bradley Bernstein; M A Bender; Mark Groudine; Andreas Gnirke; John Stamatoyannopoulos; Leonid A Mirny; Eric S Lander; Job Dekker
Journal:  Science       Date:  2009-10-09       Impact factor: 47.728

5.  A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Authors:  F David Carmona; Augusto Vaglio; Sarah L Mackie; José Hernández-Rodríguez; Paul A Monach; Santos Castañeda; Roser Solans; Inmaculada C Morado; Javier Narváez; Marc Ramentol-Sintas; Colin T Pease; Bhaskar Dasgupta; Richard Watts; Nader Khalidi; Carol A Langford; Steven Ytterberg; Luigi Boiardi; Lorenzo Beretta; Marcello Govoni; Giacomo Emmi; Francesco Bonatti; Marco A Cimmino; Torsten Witte; Thomas Neumann; Julia Holle; Verena Schönau; Laurent Sailler; Thomas Papo; Julien Haroche; Alfred Mahr; Luc Mouthon; Øyvind Molberg; Andreas P Diamantopoulos; Alexandre Voskuyl; Elisabeth Brouwer; Thomas Daikeler; Christoph T Berger; Eamonn S Molloy; Lorraine O'Neill; Daniel Blockmans; Benedicte A Lie; Paul Mclaren; Timothy J Vyse; Cisca Wijmenga; Yannick Allanore; Bobby P C Koeleman; Jennifer H Barrett; María C Cid; Carlo Salvarani; Peter A Merkel; Ann W Morgan; Miguel A González-Gay; Javier Martín
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025

Review 6.  10 Years of GWAS Discovery: Biology, Function, and Translation.

Authors:  Peter M Visscher; Naomi R Wray; Qian Zhang; Pamela Sklar; Mark I McCarthy; Matthew A Brown; Jian Yang
Journal:  Am J Hum Genet       Date:  2017-07-06       Impact factor: 11.025

Review 7.  New insights into the role of antinuclear antibodies in systemic lupus erythematosus.

Authors:  David S Pisetsky; Peter E Lipsky
Journal:  Nat Rev Rheumatol       Date:  2020-09-03       Impact factor: 20.543

8.  Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Authors:  Yun R Li; Jin Li; Sihai D Zhao; Jonathan P Bradfield; Frank D Mentch; S Melkorka Maggadottir; Cuiping Hou; Debra J Abrams; Diana Chang; Feng Gao; Yiran Guo; Zhi Wei; John J Connolly; Christopher J Cardinale; Marina Bakay; Joseph T Glessner; Dong Li; Charlly Kao; Kelly A Thomas; Haijun Qiu; Rosetta M Chiavacci; Cecilia E Kim; Fengxiang Wang; James Snyder; Marylyn D Richie; Berit Flatø; Øystein Førre; Lee A Denson; Susan D Thompson; Mara L Becker; Stephen L Guthery; Anna Latiano; Elena Perez; Elena Resnick; Richard K Russell; David C Wilson; Mark S Silverberg; Vito Annese; Benedicte A Lie; Marilynn Punaro; Marla C Dubinsky; Dimitri S Monos; Caterina Strisciuglio; Annamaria Staiano; Erasmo Miele; Subra Kugathasan; Justine A Ellis; Jane E Munro; Kathleen E Sullivan; Carol A Wise; Helen Chapel; Charlotte Cunningham-Rundles; Struan F A Grant; Jordan S Orange; Patrick M A Sleiman; Edward M Behrens; Anne M Griffiths; Jack Satsangi; Terri H Finkel; Alon Keinan; Eline T Luning Prak; Constantin Polychronakos; Robert N Baldassano; Hongzhe Li; Brendan J Keating; Hakon Hakonarson
Journal:  Nat Med       Date:  2015-08-24       Impact factor: 87.241

9.  Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease.

Authors:  Christopher A Odhams; Deborah S Cunninghame Graham; Timothy J Vyse
Journal:  PLoS Genet       Date:  2017-10-23       Impact factor: 5.917

10.  Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.

Authors:  Amit V Khera; Mark Chaffin; Krishna G Aragam; Mary E Haas; Carolina Roselli; Seung Hoan Choi; Pradeep Natarajan; Eric S Lander; Steven A Lubitz; Patrick T Ellinor; Sekar Kathiresan
Journal:  Nat Genet       Date:  2018-08-13       Impact factor: 38.330

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Journal:  Cell Biol Int       Date:  2022-07-13       Impact factor: 4.473

Review 2.  Do Transgenerational Epigenetic Inheritance and Immune System Development Share Common Epigenetic Processes?

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Review 3.  Immunoregulation by Artemisinin and Its Derivatives: A New Role for Old Antimalarial Drugs.

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Journal:  Front Immunol       Date:  2021-09-09       Impact factor: 7.561

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