Literature DB >> 20933377

Recent findings on genetics of systemic autoimmune diseases.

Angélica Delgado-Vega1, Elena Sánchez, Sara Löfgren, Casimiro Castillejo-López, Marta E Alarcón-Riquelme.   

Abstract

Association studies of over 1 million SNPs capturing most of the human genome common variation became possible thanks to the information provided by the HapMap International project and the development of high-throughput genotyping technologies at accessible prices. Genome-wide scans analyzing thousands of individuals have now identified most if not all of the major genes involved in susceptibility for several systemic autoimmune diseases. In particular, results for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) are reviewed here. While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions.
Copyright © 2010 Elsevier Ltd. All rights reserved.

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Year:  2010        PMID: 20933377      PMCID: PMC2997852          DOI: 10.1016/j.coi.2010.09.002

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


  49 in total

Review 1.  Current topics in human SLE genetics.

Authors:  Maida Wong; Betty P Tsao
Journal:  Springer Semin Immunopathol       Date:  2006-08-29

2.  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

3.  CTGF polymorphism associated with systemic sclerosis.

Authors:  Pravitt Gourh; Maureen D Mayes; Frank C Arnett
Journal:  N Engl J Med       Date:  2008-01-17       Impact factor: 91.245

4.  Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines.

Authors:  Pravitt Gourh; Sandeep K Agarwal; Dipal Divecha; Shervin Assassi; Gene Paz; Rajpreet K Arora-Singh; John D Reveille; Sanjay Shete; Maureen D Mayes; Frank C Arnett; Filemon K Tan
Journal:  Arthritis Rheum       Date:  2009-12

5.  A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.

Authors:  Swapan K Nath; Shizhong Han; Xana Kim-Howard; Jennifer A Kelly; Parvathi Viswanathan; Gary S Gilkeson; Wei Chen; Cheng Zhu; Rodger P McEver; Robert P Kimberly; Marta E Alarcón-Riquelme; Timothy J Vyse; Quan-Zhen Li; Edward K Wakeland; Joan T Merrill; Judith A James; Kenneth M Kaufman; Joel M Guthridge; John B Harley
Journal:  Nat Genet       Date:  2008-01-20       Impact factor: 38.330

6.  Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

Authors:  John B Harley; Marta E Alarcón-Riquelme; Lindsey A Criswell; Chaim O Jacob; Robert P Kimberly; Kathy L Moser; Betty P Tsao; Timothy J Vyse; Carl D Langefeld; Swapan K Nath; Joel M Guthridge; Beth L Cobb; Daniel B Mirel; Miranda C Marion; Adrienne H Williams; Jasmin Divers; Wei Wang; Summer G Frank; Bahram Namjou; Stacey B Gabriel; Annette T Lee; Peter K Gregersen; Timothy W Behrens; Kimberly E Taylor; Michelle Fernando; Raphael Zidovetzki; Patrick M Gaffney; Jeffrey C Edberg; John D Rioux; Joshua O Ojwang; Judith A James; Joan T Merrill; Gary S Gilkeson; Michael F Seldin; Hong Yin; Emily C Baechler; Quan-Zhen Li; Edward K Wakeland; Gail R Bruner; Kenneth M Kaufman; Jennifer A Kelly
Journal:  Nat Genet       Date:  2008-01-20       Impact factor: 38.330

7.  Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.

Authors:  Sergey V Kozyrev; Anna-Karin Abelson; Jerome Wojcik; Ammar Zaghlool; M V Prasad Linga Reddy; Elena Sanchez; Iva Gunnarsson; Elisabet Svenungsson; Gunnar Sturfelt; Andreas Jönsen; Lennart Truedsson; Bernardo A Pons-Estel; Torsten Witte; Sandra D'Alfonso; Nadia Barizzone; Nadia Barrizzone; Maria Giovanna Danieli; Carmen Gutierrez; Ana Suarez; Peter Junker; Helle Laustrup; Maria Francisca González-Escribano; Javier Martin; Hadi Abderrahim; Marta E Alarcón-Riquelme
Journal:  Nat Genet       Date:  2008-01-20       Impact factor: 38.330

8.  TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

Authors:  Robert M Plenge; Mark Seielstad; Leonid Padyukov; Annette T Lee; Elaine F Remmers; Bo Ding; Anthony Liew; Houman Khalili; Alamelu Chandrasekaran; Leela R L Davies; Wentian Li; Adrian K S Tan; Carine Bonnard; Rick T H Ong; Anbupalam Thalamuthu; Sven Pettersson; Chunyu Liu; Chao Tian; Wei V Chen; John P Carulli; Evan M Beckman; David Altshuler; Lars Alfredsson; Lindsey A Criswell; Christopher I Amos; Michael F Seldin; Daniel L Kastner; Lars Klareskog; Peter K Gregersen
Journal:  N Engl J Med       Date:  2007-09-05       Impact factor: 91.245

9.  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

10.  Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus.

Authors:  Deborah S Cunninghame Graham; Robert R Graham; Harinder Manku; Andrew K Wong; John C Whittaker; Patrick M Gaffney; Kathy L Moser; John D Rioux; David Altshuler; Timothy W Behrens; Timothy J Vyse
Journal:  Nat Genet       Date:  2007-12-02       Impact factor: 38.330

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  28 in total

Review 1.  Unraveling the genetic component of systemic sclerosis.

Authors:  José Ezequiel Martín; Lara Bossini-Castillo; Javier Martín
Journal:  Hum Genet       Date:  2012-01-05       Impact factor: 4.132

2.  Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.

Authors:  Ying-Yu Wu; Ina Georg; Alejandro Díaz-Barreiro; Nieves Varela; Bernard Lauwerys; Ramesh Kumar; Harini Bagavant; Mireia Castillo-Martín; Fadi El Salem; Concepción Marañón; Marta E Alarcón-Riquelme
Journal:  J Immunol       Date:  2015-05-13       Impact factor: 5.422

Review 3.  Epigenetic alterations in autoimmune rheumatic diseases.

Authors:  Esteban Ballestar
Journal:  Nat Rev Rheumatol       Date:  2011-02-22       Impact factor: 20.543

4.  Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.

Authors:  Travis Hughes; Adam Adler; Joan T Merrill; Jennifer A Kelly; Kenneth M Kaufman; Adrienne Williams; Carl D Langefeld; Gary S Gilkeson; Elena Sanchez; Javier Martin; Susan A Boackle; Anne M Stevens; Graciela S Alarcón; Timothy B Niewold; Elizabeth E Brown; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Lindsey A Criswell; Luis M Vilá; Chaim O Jacob; Patrick M Gaffney; Kathy L Moser; Timothy J Vyse; Marta E Alarcón-Riquelme; Judith A James; Betty P Tsao; R Hal Scofield; John B Harley; Bruce C Richardson; Amr H Sawalha
Journal:  Ann Rheum Dis       Date:  2011-11-21       Impact factor: 19.103

Review 5.  Oxidative stress as a potential causal factor for autoimmune hemolytic anemia and systemic lupus erythematosus.

Authors:  Junichi Fujii; Toshihiro Kurahashi; Tasuku Konno; Takujiro Homma; Yoshihito Iuchi
Journal:  World J Nephrol       Date:  2015-05-06

6.  Genetic approach to study lupus glomerulonephritis.

Authors:  Yan Ge; Michael G Brown; Hongyang Wang; Shu Man Fu
Journal:  Methods Mol Biol       Date:  2012

7.  Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

Authors:  Elena Sanchez; Ajay Nadig; Bruce C Richardson; Barry I Freedman; Kenneth M Kaufman; Jennifer A Kelly; Timothy B Niewold; Diane L Kamen; Gary S Gilkeson; Julie T Ziegler; Carl D Langefeld; Graciela S Alarcón; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; Elizabeth E Brown; Robert P Kimberly; John D Reveille; Luis M Vilá; Joan T Merrill; Juan-Manuel Anaya; Judith A James; Bernardo A Pons-Estel; Javier Martin; So-Yeon Park; So-Young Bang; Sang-Cheol Bae; Kathy L Moser; Timothy J Vyse; Lindsey A Criswell; Patrick M Gaffney; Betty P Tsao; Chaim O Jacob; John B Harley; Marta E Alarcón-Riquelme; Amr H Sawalha
Journal:  Ann Rheum Dis       Date:  2011-06-30       Impact factor: 19.103

8.  A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

Authors:  Jose-Ezequiel Martin; Shervin Assassi; Lina-Marcela Diaz-Gallo; Jasper C Broen; Carmen P Simeon; Ivan Castellvi; Esther Vicente-Rabaneda; Vicente Fonollosa; Norberto Ortego-Centeno; Miguel A González-Gay; Gerard Espinosa; Patricia Carreira; Mayte Camps; Jose M Sabio; Sandra D'alfonso; Madelon C Vonk; Alexandre E Voskuyl; Annemie J Schuerwegh; Alexander Kreuter; Torsten Witte; Gabriella Riemekasten; Nicolas Hunzelmann; Paolo Airo; Lorenzo Beretta; Raffaella Scorza; Claudio Lunardi; Jacob Van Laar; Meng May Chee; Jane Worthington; Arianne Herrick; Christopher Denton; Carmen Fonseca; Filemon K Tan; Frank Arnett; Xiaodong Zhou; John D Reveille; Olga Gorlova; Bobby P C Koeleman; Timothy R D J Radstake; Timothy Vyse; Maureen D Mayes; Marta E Alarcón-Riquelme; Javier Martin
Journal:  Hum Mol Genet       Date:  2013-06-04       Impact factor: 6.150

9.  Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

Authors:  Elena Sánchez; Mary E Comeau; Barry I Freedman; Jennifer A Kelly; Kenneth M Kaufman; Carl D Langefeld; Elizabeth E Brown; Graciela S Alarcón; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Luis M Vilá; Joan T Merrill; Betty P Tsao; Diane L Kamen; Gary S Gilkeson; Judith A James; Timothy J Vyse; Patrick M Gaffney; Chaim O Jacob; Timothy B Niewold; Bruce C Richardson; John B Harley; Marta E Alarcón-Riquelme; Amr H Sawalha
Journal:  Arthritis Rheum       Date:  2011-11

10.  Epigenomic elements enriched in the promoters of autoimmunity susceptibility genes.

Authors:  Mikhail G Dozmorov; Jonathan D Wren; Marta E Alarcón-Riquelme
Journal:  Epigenetics       Date:  2013-11-08       Impact factor: 4.528

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