Literature DB >> 20441431

Recent advances in the genetics of systemic lupus erythematosus.

Donna L Thibault Flesher1, Xin Sun, Timothy W Behrens, Robert R Graham, Lindsey A Criswell.   

Abstract

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of antinuclear autoantibodies and the inflammatory infiltration of many organ systems. SLE is a complex disorder in which multiple genetic variants, together with environmental and hormonal factors, contribute to disease risk. In this article, we summarize our current understanding of the genetic contribution to SLE in light of recent genome-wide association studies, which have brought the total number of confirmed SLE susceptibility loci to 29. In the second section, we explore the functional implications of these risk loci and, in particular, highlight the role that many of these genes play in the Toll-like receptor and type I interferon signaling pathways. Finally, we discuss the genetic overlap between SLE and other autoimmune and inflammatory conditions as several risk loci are shared among multiple disorders, suggesting common underlying pathogenic mechanisms.

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Year:  2010        PMID: 20441431      PMCID: PMC2897739          DOI: 10.1586/eci.10.8

Source DB:  PubMed          Journal:  Expert Rev Clin Immunol        ISSN: 1744-666X            Impact factor:   4.473


  211 in total

1.  Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.

Authors:  Robert M Plenge; Chris Cotsapas; Leela Davies; Alkes L Price; Paul I W de Bakker; Julian Maller; Itsik Pe'er; Noel P Burtt; Brendan Blumenstiel; Matt DeFelice; Melissa Parkin; Rachel Barry; Wendy Winslow; Claire Healy; Robert R Graham; Benjamin M Neale; Elena Izmailova; Ronenn Roubenoff; Alexander N Parker; Roberta Glass; Elizabeth W Karlson; Nancy Maher; David A Hafler; David M Lee; Michael F Seldin; Elaine F Remmers; Annette T Lee; Leonid Padyukov; Lars Alfredsson; Jonathan Coblyn; Michael E Weinblatt; Stacey B Gabriel; Shaun Purcell; Lars Klareskog; Peter K Gregersen; Nancy A Shadick; Mark J Daly; David Altshuler
Journal:  Nat Genet       Date:  2007-11-04       Impact factor: 38.330

2.  Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies.

Authors:  T T Provost; F C Arnett; M Reichlin
Journal:  Arthritis Rheum       Date:  1983-10

3.  Control of toll-like receptor 7 expression is essential to restrict autoimmunity and dendritic cell proliferation.

Authors:  Jonathan A Deane; Prapaporn Pisitkun; Rebecca S Barrett; Lionel Feigenbaum; Terrence Town; Jerrold M Ward; Richard A Flavell; Silvia Bolland
Journal:  Immunity       Date:  2007-11-08       Impact factor: 31.745

4.  Population genomics of human gene expression.

Authors:  Barbara E Stranger; Alexandra C Nica; Matthew S Forrest; Antigone Dimas; Christine P Bird; Claude Beazley; Catherine E Ingle; Mark Dunning; Paul Flicek; Daphne Koller; Stephen Montgomery; Simon Tavaré; Panos Deloukas; Emmanouil T Dermitzakis
Journal:  Nat Genet       Date:  2007-09-16       Impact factor: 38.330

5.  Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes.

Authors:  Mary Rieck; Adrian Arechiga; Suna Onengut-Gumuscu; Carla Greenbaum; Patrick Concannon; Jane H Buckner
Journal:  J Immunol       Date:  2007-10-01       Impact factor: 5.422

6.  STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.

Authors:  Elaine F Remmers; Robert M Plenge; Annette T Lee; Robert R Graham; Geoffrey Hom; Timothy W Behrens; Paul I W de Bakker; Julie M Le; Hye-Soon Lee; Franak Batliwalla; Wentian Li; Seth L Masters; Matthew G Booty; John P Carulli; Leonid Padyukov; Lars Alfredsson; Lars Klareskog; Wei V Chen; Christopher I Amos; Lindsey A Criswell; Michael F Seldin; Daniel L Kastner; Peter K Gregersen
Journal:  N Engl J Med       Date:  2007-09-06       Impact factor: 91.245

7.  CD303 (BDCA-2) signals in plasmacytoid dendritic cells via a BCR-like signalosome involving Syk, Slp65 and PLCgamma2.

Authors:  Jürgen Röck; Erik Schneider; Joachim R Grün; Andreas Grützkau; Ralf Küppers; Jürgen Schmitz; Gregor Winkels
Journal:  Eur J Immunol       Date:  2007-12       Impact factor: 5.532

8.  Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Authors:  Min Ae Lee-Kirsch; Maolian Gong; Dipanjan Chowdhury; Lydia Senenko; Kerstin Engel; Young-Ae Lee; Udesh de Silva; Suzanna L Bailey; Torsten Witte; Timothy J Vyse; Juha Kere; Christiane Pfeiffer; Scott Harvey; Andrew Wong; Sari Koskenmies; Oliver Hummel; Klaus Rohde; Reinhold E Schmidt; Anna F Dominiczak; Manfred Gahr; Thomas Hollis; Fred W Perrino; Judy Lieberman; Norbert Hübner
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

Review 9.  Chediak-Higashi syndrome.

Authors:  Jerry Kaplan; Ivana De Domenico; Diane McVey Ward
Journal:  Curr Opin Hematol       Date:  2008-01       Impact factor: 3.284

10.  Rheumatoid arthritis association at 6q23.

Authors:  Wendy Thomson; Anne Barton; Xiayi Ke; Steve Eyre; Anne Hinks; John Bowes; Rachelle Donn; Deborah Symmons; Samantha Hider; Ian N Bruce; Anthony G Wilson; Ioanna Marinou; Ann Morgan; Paul Emery; Angela Carter; Sophia Steer; Lynne Hocking; David M Reid; Paul Wordsworth; Pille Harrison; David Strachan; Jane Worthington
Journal:  Nat Genet       Date:  2007-11-04       Impact factor: 38.330

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  44 in total

1.  Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.

Authors:  Travis Hughes; Adam Adler; Jennifer A Kelly; Kenneth M Kaufman; Adrienne H Williams; Carl D Langefeld; Elizabeth E Brown; Graciela S Alarcón; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; Susan A Boackle; Anne M Stevens; John D Reveille; Elena Sanchez; Javier Martín; Timothy B Niewold; Luis M Vilá; R Hal Scofield; Gary S Gilkeson; Patrick M Gaffney; Lindsey A Criswell; Kathy L Moser; Joan T Merrill; Chaim O Jacob; Betty P Tsao; Judith A James; Timothy J Vyse; Marta E Alarcón-Riquelme; John B Harley; Bruce C Richardson; Amr H Sawalha
Journal:  Arthritis Rheum       Date:  2012-02

2.  Structural insights into a human anti-IFN antibody exerting therapeutic potential for systemic lupus erythematosus.

Authors:  Songying Ouyang; Bin Gong; Jin-Zhi Li; Li-Xia Zhao; Wei Wu; Fu-Shun Zhang; Lina Sun; Shu-Jun Wang; Meng Pan; Chuan Li; Wenguang Liang; Neil Shaw; Jie Zheng; Guo-Ping Zhao; Ying Wang; Zhi-Jie Liu; Mifang Liang
Journal:  J Mol Med (Berl)       Date:  2012-02-04       Impact factor: 4.599

Review 3.  Immune senescence, epigenetics and autoimmunity.

Authors:  Donna Ray; Raymond Yung
Journal:  Clin Immunol       Date:  2018-04-11       Impact factor: 3.969

4.  A20-binding inhibitor of NF-κB (ABIN1) controls Toll-like receptor-mediated CCAAT/enhancer-binding protein β activation and protects from inflammatory disease.

Authors:  Jingran Zhou; Ruiqiong Wu; Anthony A High; Clive A Slaughter; David Finkelstein; Jerold E Rehg; Vanessa Redecke; Hans Häcker
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-19       Impact factor: 11.205

Review 5.  Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis.

Authors:  Chandra Mohan; Chaim Putterman
Journal:  Nat Rev Nephrol       Date:  2015-03-31       Impact factor: 28.314

6.  A pathogenetic role for IL-21 in primary Sjögren syndrome.

Authors:  Seung-Ki Kwok; Jennifer Lee; Di Yu; Kwi Young Kang; Mi-La Cho; Hae-Rim Kim; Ji Hyeon Ju; Sang-Heon Lee; Sung-Hwan Park; Ho-Youn Kim
Journal:  Nat Rev Rheumatol       Date:  2015-01-13       Impact factor: 20.543

7.  Genetics of the type I interferon pathway in systemic lupus erythematosus.

Authors:  Yogita Ghodke-Puranik; Timothy B Niewold
Journal:  Int J Clin Rheumtol       Date:  2013-12-01

8.  Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

Authors:  Peter K Gregersen; Roman Kosoy; Annette T Lee; Janine Lamb; Jon Sussman; David McKee; Kim R Simpfendorfer; Ritva Pirskanen-Matell; Frederik Piehl; Qiang Pan-Hammarstrom; Jan J G M Verschuuren; Maarten J Titulaer; Erik H Niks; Alexander Marx; Philipp Ströbel; Björn Tackenberg; Michael Pütz; Angelina Maniaol; Ahmed Elsais; Chantal Tallaksen; Hanne F Harbo; Benedicte A Lie; Soumya Raychaudhuri; Paul I W de Bakker; Arthur Melms; Henri-Jean Garchon; Nicholas Willcox; Lennart Hammarstrom; Michael F Seldin
Journal:  Ann Neurol       Date:  2012-10-10       Impact factor: 10.422

Review 9.  Somatic mutagenesis in autoimmunity.

Authors:  Thiago Detanico; James B St Clair; Katja Aviszus; Greg Kirchenbaum; Wenzhong Guo; Lawrence J Wysocki
Journal:  Autoimmunity       Date:  2013-01-18       Impact factor: 2.815

Review 10.  Immunogenetics of systemic lupus erythematosus: A comprehensive review.

Authors:  Yogita Ghodke-Puranik; Timothy B Niewold
Journal:  J Autoimmun       Date:  2015-08-29       Impact factor: 7.094

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