Roles of genetic variations in signalling/immunoregulatory molecules in susceptibility to systemic lupus erythematosus

被引:14
作者
Akahoshi, Mitsuteru [1 ]
Nakashima, Hitoshi
Shirakawa, Taro
机构
[1] RIKEN, Yokohama Inst, SNP Res Ctr, Lab Genet Allerg Dis, Yokohama, Kanagawa, Japan
[2] Kyushu Univ, Grad Sch Med Sci, Dept Med & Biosystem Sci, Fukuoka 812, Japan
[3] Kyoto Univ, Grad Sch Publ Hlth, Dept Hlth Promot & Human Behav, Kyoto, Japan
关键词
signalling; immunoregulatory; SLE; genetic variations;
D O I
10.1016/j.smim.2006.03.010
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with a complex genetic basis that includes many susceptibility genes on multiple chromosomes. As complex human diseases like SLE involve multiple, interacting genetic and environmental determinants, identifying genes for complex traits is challenging and has had limited success so far. However, recent advances in genetic resources and technology have been providing new tools to identify the novel pathways or the sequence variants that contribute to autoimmune diseases. During the past several years, several new candidate genes have been implicated in development of SLE though association studies. In this article we describe an overview of the latest findings in the genetics of SLE, especially focusing on the genetic variations in the signalling or immunoregulatory molecules including CD28 and IRF family members. (C) 2006 Elsevier Ltd. All rights reserved.
引用
收藏
页码:224 / 229
页数:6
相关论文
共 77 条
[1]  
ADAM C, 1980, CLIN EXP IMMUNOL, V40, P373
[2]   Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocytes [J].
Agata, Y ;
Kawasaki, A ;
Nishimura, H ;
Ishida, Y ;
Tsubata, T ;
Yagita, H ;
Honjo, T .
INTERNATIONAL IMMUNOLOGY, 1996, 8 (05) :765-772
[3]  
Akahoshi M, 1999, ARTHRITIS RHEUM, V42, P1644, DOI 10.1002/1529-0131(199908)42:8<1644::AID-ANR12>3.0.CO
[4]  
2-L
[5]  
AKAHOSHI M, IN PRESS PROMOTER PO
[6]   CYTOKINE PROFILE IN SYSTEMIC LUPUS-ERYTHEMATOSUS, RHEUMATOID-ARTHRITIS, AND OTHER RHEUMATIC DISEASES [J].
ALJANADI, M ;
ALBALLA, S ;
ALDALAAN, A ;
RAZIUDDIN, S .
JOURNAL OF CLINICAL IMMUNOLOGY, 1993, 13 (01) :58-67
[7]   Protein tyrosine phosphatases in the human genome [J].
Alonso, A ;
Sasin, J ;
Bottini, N ;
Friedberg, I ;
Friedberg, I ;
Osterman, A ;
Godzik, A ;
Hunter, T ;
Dixon, J ;
Mustelin, T .
CELL, 2004, 117 (06) :699-711
[8]   A genomic perspective on protein tyrosine phosphatases: gene structure, pseudogenes, and genetic disease linkage [J].
Andersen, JN ;
Jansen, PG ;
Echwald, SM ;
Mortensen, OH ;
Fukada, T ;
Del Vecchio, R ;
Tonks, NK ;
Moller, NPH .
FASEB JOURNAL, 2004, 18 (01) :8-30
[9]   Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus [J].
Baechler, EC ;
Batliwalla, FM ;
Karypis, G ;
Gaffney, PM ;
Ortmann, WA ;
Espe, KJ ;
Shark, KB ;
Grande, WJ ;
Hughes, KM ;
Kapur, V ;
Gregersen, PK ;
Behrens, TW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (05) :2610-2615
[10]   Interferon-γ is required for lupus-like disease and lymphoaccumulation in MRL-lpr mice [J].
Balomenos, D ;
Rumold, R ;
Theofilopoulos, AN .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (02) :364-371