Literature DB >> 16964481

The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility.

Marta E Alarcón-Riquelme1.   

Abstract

The identification of genes for autoimmune diseases is just the first step towards our understanding of disease pathogenesis. In investigating how mutations, deletions or other types of polymorphic defects occur, it is important to determine the pathways and the mechanisms through which susceptibility leads to disease. In this review I touch on three examples of studies that have attempted to understand the mechanisms of genetic susceptibility in three genes identified recently for systemic lupus erythematosus: PDCD1, PTPN22 and IRF5. We are just beginning to comprehend and much needs to be done.

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Year:  2006        PMID： 16964481     DOI： 10.1007/s00281-006-0033-4

Source DB:  PubMed          Journal:  Springer Semin Immunopathol        ISSN： 0344-4325


  109 in total

1.  PD-1 immunoreceptor inhibits B cell receptor-mediated signaling by recruiting src homology 2-domain-containing tyrosine phosphatase 2 to phosphotyrosine.

Authors:  T Okazaki; A Maeda; H Nishimura; T Kurosaki; T Honjo
Journal:  Proc Natl Acad Sci U S A       Date:  2001-11-06       Impact factor: 11.205

2.  HapMap: building a database with blocks.

Authors:  Charles W Schmidt
Journal:  EHP Toxicogenomics       Date:  2003-01

3.  A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

Authors:  Robert R Graham; Sergey V Kozyrev; Emily C Baechler; M V Prasad Linga Reddy; Robert M Plenge; Jason W Bauer; Ward A Ortmann; Thearith Koeuth; Ma Francisca González Escribano; Bernardo Pons-Estel; Michelle Petri; Mark Daly; Peter K Gregersen; Javier Martín; David Altshuler; Timothy W Behrens; Marta E Alarcón-Riquelme
Journal:  Nat Genet       Date:  2006-04-16       Impact factor: 38.330

4.  The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.

Authors:  Y W Zhang; S C Bae; E Takahashi; Y Ito
Journal:  Oncogene       Date:  1997-07-17       Impact factor: 9.867

5.  Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocytes.

Authors:  Y Agata; A Kawasaki; H Nishimura; Y Ishida; T Tsubata; H Yagita; T Honjo
Journal:  Int Immunol       Date:  1996-05       Impact factor: 4.823

6.  The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis.

Authors:  Ann B Begovich; Stacy J Caillier; Heather C Alexander; Joanne M Penko; Stephen L Hauser; Lisa F Barcellos; Jorge R Oksenberg
Journal:  Am J Hum Genet       Date:  2005-01       Impact factor: 11.025

7.  Identification of intervals on chromosomes 1, 3, and 13 linked to the development of lupus in BXSB mice.

Authors:  M E Haywood; M B Hogarth; J H Slingsby; S J Rose; P J Allen; E M Thompson; M A Maibaum; P Chandler; K A Davies; E Simpson; M J Walport; B J Morley
Journal:  Arthritis Rheum       Date:  2000-02

8.  A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

Authors:  Ann B Begovich; Victoria E H Carlton; Lee A Honigberg; Steven J Schrodi; Anand P Chokkalingam; Heather C Alexander; Kristin G Ardlie; Qiqing Huang; Ashley M Smith; Jill M Spoerke; Marion T Conn; Monica Chang; Sheng-Yung P Chang; Randall K Saiki; Joseph J Catanese; Diane U Leong; Veronica E Garcia; Linda B McAllister; Douglas A Jeffery; Annette T Lee; Franak Batliwalla; Elaine Remmers; Lindsey A Criswell; Michael F Seldin; Daniel L Kastner; Christopher I Amos; John J Sninsky; Peter K Gregersen
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

9.  Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope.

Authors:  Ludmila Prokunina; Leonid Padyukov; Anna Bennet; Ulf de Faire; Björn Wiman; Jonathan Prince; Lars Alfredsson; Lars Klareskog; Marta Alarcón-Riquelme
Journal:  Arthritis Rheum       Date:  2004-06

10.  Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.

Authors:  Deborah Smyth; Jason D Cooper; Joanne E Collins; Joanne M Heward; Jayne A Franklyn; Joanna M M Howson; Adrian Vella; Sarah Nutland; Helen E Rance; Lisa Maier; Bryan J Barratt; Cristian Guja; Constantin Ionescu-Tîrgoviste; David A Savage; David B Dunger; Barry Widmer; David P Strachan; Susan M Ring; Neil Walker; David G Clayton; Rebecca C J Twells; Stephen C L Gough; John A Todd
Journal:  Diabetes       Date:  2004-11       Impact factor: 9.461
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  3 in total

1.  Poverty, not ethnicity, accounts for the differential mortality rates among lupus patients of various ethnic groups.

Authors:  Sergio Durán; Mandar Apte; Graciela S Alarcón
Journal:  J Natl Med Assoc       Date:  2007-10       Impact factor: 1.798

2.  Occurrence of organ-specific and systemic autoimmune diseases among the first- and second-degree relatives of Caucasian patients with connective tissue diseases: report of data obtained through direct patient interviews.

Authors:  Marta Mosca; Linda Carli; Anna d'Ascanio; Chiara Tani; Rosaria Talarico; Chiara Baldini; Laura Bazzichi; Antonio Tavoni; Paola Migliorini; Stefano Bombardieri
Journal:  Clin Rheumatol       Date:  2008-05-29       Impact factor: 2.980

3.  Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Authors:  Struan Fa Grant; Michelle Petri; Jonathan P Bradfield; Cecilia E Kim; Erin Santa; Kiran Annaiah; Edward C Frackelton; Joseph T Glessner; F George Otieno; Julie L Shaner; Ryan M Smith; Andrew W Eckert; Rosetta M Chiavacci; Marcin Imielinski; Kathleen E Sullivan; Hakon Hakonarson
Journal:  Appl Clin Genet       Date:  2009-12-09
  3 in total

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