Literature DB >> 25458995

Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism.

Vinod Kumar1, Cisca Wijmenga2, Ramnik J Xavier3.   

Abstract

Genetic association studies have identified not only hundreds of susceptibility loci to immune-mediated diseases but also pinpointed causal amino-acid variants of HLA genes that contribute to many autoimmune reactions. Majority of non-HLA genetic variants are located within non-coding regulatory region. Expression QTL studies have shown that these variants affect disease mainly by regulating gene expression. We discuss recent findings on shared genetic loci between infectious and immune-mediated diseases and provide potential clues to explore genetic associations in the context of these infectious agents. We propose that the interdisciplinary studies (genetics-genomics-immunology-infection-bioinformatics) are the future post-GWAS approaches to advance our understanding of the pathogenesis of immune-mediated diseases.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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Year:  2014        PMID： 25458995      PMCID： PMC5080657          DOI： 10.1016/j.coi.2014.09.007

Source DB:  PubMed          Journal:  Curr Opin Immunol        ISSN： 0952-7915            Impact factor:   7.486


  59 in total

1.  Genome-wide identification of long noncoding RNAs in CD8+ T cells.

Authors:  Ken C Pang; Marcel E Dinger; Tim R Mercer; Lorenzo Malquori; Sean M Grimmond; Weisan Chen; John S Mattick
Journal:  J Immunol       Date:  2009-06-15       Impact factor: 5.422

Review 2.  Tissue-mediated control of immunopathology in coeliac disease.

Authors:  Bana Jabri; Ludvig M Sollid
Journal:  Nat Rev Immunol       Date:  2009-12       Impact factor: 53.106

Review 3.  Regulation of mammalian cell differentiation by long non-coding RNAs.

Authors:  Wenqian Hu; Juan R Alvarez-Dominguez; Harvey F Lodish
Journal:  EMBO Rep       Date:  2012-10-16       Impact factor: 8.807

Review 4.  Genetic variation in Toll-like receptors and disease susceptibility.

Authors:  Mihai G Netea; Cisca Wijmenga; Luke A J O'Neill
Journal:  Nat Immunol       Date:  2012-05-18       Impact factor: 25.606

5.  Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus.

Authors:  Emily C Baechler; Franak M Batliwalla; George Karypis; Patrick M Gaffney; Ward A Ortmann; Karl J Espe; Katherine B Shark; William J Grande; Karis M Hughes; Vivek Kapur; Peter K Gregersen; Timothy W Behrens
Journal:  Proc Natl Acad Sci U S A       Date:  2003-02-25       Impact factor: 11.205

Review 6.  Antiviral immune responses: triggers of or triggered by autoimmunity?

Authors:  Christian Münz; Jan D Lünemann; Meghann Teague Getts; Stephen D Miller
Journal:  Nat Rev Immunol       Date:  2009-04       Impact factor: 53.106

Review 7.  Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.

Authors:  Xiaoyang Zhang; Swneke D Bailey; Mathieu Lupien
Journal:  Trends Genet       Date:  2014-03-22       Impact factor: 11.639

8.  High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

Authors:  Steve Eyre; John Bowes; Dorothée Diogo; Annette Lee; Anne Barton; Paul Martin; Alexandra Zhernakova; Eli Stahl; Sebastien Viatte; Kate McAllister; Christopher I Amos; Leonid Padyukov; Rene E M Toes; Tom W J Huizinga; Cisca Wijmenga; Gosia Trynka; Lude Franke; Harm-Jan Westra; Lars Alfredsson; Xinli Hu; Cynthia Sandor; Paul I W de Bakker; Sonia Davila; Chiea Chuen Khor; Khai Koon Heng; Robert Andrews; Sarah Edkins; Sarah E Hunt; Cordelia Langford; Deborah Symmons; Pat Concannon; Suna Onengut-Gumuscu; Stephen S Rich; Panos Deloukas; Miguel A Gonzalez-Gay; Luis Rodriguez-Rodriguez; Lisbeth Ärlsetig; Javier Martin; Solbritt Rantapää-Dahlqvist; Robert M Plenge; Soumya Raychaudhuri; Lars Klareskog; Peter K Gregersen; Jane Worthington
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

9.  Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Authors:  Lam C Tsoi; Sarah L Spain; Jo Knight; Eva Ellinghaus; Philip E Stuart; Francesca Capon; Jun Ding; Yanming Li; Trilokraj Tejasvi; Johann E Gudjonsson; Hyun M Kang; Michael H Allen; Ross McManus; Giuseppe Novelli; Lena Samuelsson; Joost Schalkwijk; Mona Ståhle; A David Burden; Catherine H Smith; Michael J Cork; Xavier Estivill; Anne M Bowcock; Gerald G Krueger; Wolfgang Weger; Jane Worthington; Rachid Tazi-Ahnini; Frank O Nestle; Adrian Hayday; Per Hoffmann; Juliane Winkelmann; Cisca Wijmenga; Cordelia Langford; Sarah Edkins; Robert Andrews; Hannah Blackburn; Amy Strange; Gavin Band; Richard D Pearson; Damjan Vukcevic; Chris C A Spencer; Panos Deloukas; Ulrich Mrowietz; Stefan Schreiber; Stephan Weidinger; Sulev Koks; Külli Kingo; Tonu Esko; Andres Metspalu; Henry W Lim; John J Voorhees; Michael Weichenthal; H Erich Wichmann; Vinod Chandran; Cheryl F Rosen; Proton Rahman; Dafna D Gladman; Christopher E M Griffiths; Andre Reis; Juha Kere; Rajan P Nair; Andre Franke; Jonathan N W N Barker; Goncalo R Abecasis; James T Elder; Richard C Trembath
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

10.  Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis.

Authors:  Soumya Raychaudhuri; Cynthia Sandor; Eli A Stahl; Jan Freudenberg; Hye-Soon Lee; Xiaoming Jia; Lars Alfredsson; Leonid Padyukov; Lars Klareskog; Jane Worthington; Katherine A Siminovitch; Sang-Cheol Bae; Robert M Plenge; Peter K Gregersen; Paul I W de Bakker
Journal:  Nat Genet       Date:  2012-01-29       Impact factor: 38.330
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  16 in total

Review 1.  Inflammasomes and intestinal inflammation.

Authors:  N Zmora; M Levy; M Pevsner-Fishcer; E Elinav
Journal:  Mucosal Immunol       Date:  2017-04-12       Impact factor: 7.313

2.  Understanding human immune function using the resources from the Human Functional Genomics Project.

Authors:  Mihai G Netea; Leo A B Joosten; Yang Li; Vinod Kumar; Marije Oosting; Sanne Smeekens; Martin Jaeger; Rob Ter Horst; Melanie Schirmer; Hera Vlamakis; Richard Notebaart; Norman Pavelka; Raul Raul Aguirre-Gamboa; Morris A Swertz; Rahajeng N Tunjungputri; Wouter van de Heijden; Eric A Franzosa; Aylwin Ng; Daniel Graham; Kara Lassen; Kiki Schraa; Romana Netea-Maier; Jan Smit; Quirijn de Mast; Frank van de Veerdonk; Bart Jan Kullberg; Cees Tack; Inge van de Munckhof; Joost Rutten; Jacqueline van der Graaf; Lude Franke; Marten Hofker; Iris Jonkers; Mathieu Platteel; Astrid Maatman; Jingyuan Fu; Alexandra Zhernakova; Jos W M van der Meer; Charles A Dinarello; Andre van der Ven; Curtis Huttenhouwer; Hans Koenen; Irma Joosten; Ramnik J Xavier; Cisca Wijmenga
Journal:  Nat Med       Date:  2016-08-04       Impact factor: 53.440

Review 3.  [Autoimmune reactions in psoriasis : Spotlight].

Authors:  J C Prinz
Journal:  Hautarzt       Date:  2016-06       Impact factor: 0.751

Review 4.  Coeliac disease and autoimmune disease-genetic overlap and screening.

Authors:  Knut E A Lundin; Cisca Wijmenga
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2015-08-25       Impact factor: 46.802

Review 5.  Diametrical diseases reflect evolutionary-genetic tradeoffs: Evidence from psychiatry, neurology, rheumatology, oncology and immunology.

Authors:  Bernard J Crespi; Matthew C Go
Journal:  Evol Med Public Health       Date:  2015-09-09

6.  Genetic dissection of host immune response in pneumonia development and progression.

Authors:  Tamara V Smelaya; Olesya B Belopolskaya; Svetlana V Smirnova; Artem N Kuzovlev; Viktor V Moroz; Arkadiy M Golubev; Noel A Pabalan; Lyubov E Salnikova
Journal:  Sci Rep       Date:  2016-10-11       Impact factor: 4.379

7.  Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs.

Authors:  Isis Ricaño-Ponce; Daria V Zhernakova; Patrick Deelen; Oscar Luo; Xingwang Li; Aaron Isaacs; Juha Karjalainen; Jennifer Di Tommaso; Zuzanna Agnieszka Borek; Maria M Zorro; Javier Gutierrez-Achury; Andre G Uitterlinden; Albert Hofman; Joyce van Meurs; Mihai G Netea; Iris H Jonkers; Sebo Withoff; Cornelia M van Duijn; Yang Li; Yijun Ruan; Lude Franke; Cisca Wijmenga; Vinod Kumar
Journal:  J Autoimmun       Date:  2016-02-18       Impact factor: 7.094

8.  Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi.

Authors:  Yang Li; Marije Oosting; Patrick Deelen; Isis Ricaño-Ponce; Sanne Smeekens; Martin Jaeger; Vasiliki Matzaraki; Morris A Swertz; Ramnik J Xavier; Lude Franke; Cisca Wijmenga; Leo A B Joosten; Vinod Kumar; Mihai G Netea
Journal:  Nat Med       Date:  2016-07-04       Impact factor: 53.440

Review 9.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

10.  Biological function integrated prediction of severe radiographic progression in rheumatoid arthritis: a nested case control study.

Authors:  Young Bin Joo; Yul Kim; Youngho Park; Kwangwoo Kim; Jeong Ah Ryu; Seunghun Lee; So-Young Bang; Hye-Soon Lee; Gwan-Su Yi; Sang-Cheol Bae
Journal:  Arthritis Res Ther       Date:  2017-10-25       Impact factor: 5.156
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