The genetics of type I interferon in systemic lupus erythematosus

被引：98

作者：

Bronson, Paola G. ^{[1
]}

Chaivorapol, Christina ^{[2
]}

Ortmann, Ward ^{[1
]}

Behrens, Timothy W. ^{[1
]}

Graham, Robert R. ^{[1
]}

机构：

[1] Genentech Inc, Dept Human Genet, San Francisco, CA 94080 USA

[2] Genentech Inc, Dept Bioinformat & Computat Biol, San Francisco, CA 94080 USA

来源：

CURRENT OPINION IN IMMUNOLOGY | 2012年 / 24卷 / 05期

关键词：

PLASMACYTOID DENDRITIC CELLS; GENOME-WIDE ASSOCIATION; REGULATORY FACTOR 5; AICARDI-GOUTIERES-SYNDROME; ACTIVATE B-CELLS; PERIPHERAL-BLOOD; IFN-ALPHA; DISEASE-ACTIVITY; ANTI-INTERFERON; FUNCTIONAL VARIANTS;

D O I：

10.1016/j.coi.2012.07.008

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

The discovery that type I interferon (IFN)-inducible genes were strongly upregulated in peripheral blood in SLE over a decade ago sparked interest in understanding the relationship between type I IFN and SLE. Genome-wide association studies provide strong genetic evidence that type I IFNs are important for SLE risk. Of 47 genetic variants associated with SLE, over half (27/47,57%) can be linked to type I IFN production or signaling. The recent identification of single gene mutations for disorders that share features with SLE - Aicardi-Goutieres syndrome, chilblain lupus, and spondyloenchondrodysplasia - provide additional support for the hypothesis that type I IFNs are central drivers of SLE pathogenesis. These insights provide significant focus for efforts to tackle SLE therapeutically.

引用

页码：530 / 537

页数：8

共 98 条

[1]

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease) [J].

Abrera-Abeleda, M. A. ;

Nishimura, C. ;

Smith, J. L. H. ;

Sethi, S. ;

McRae, J. L. ;

Murphy, B. F. ;

Silvestri, G. ;

Skerka, C. ;

Jozsi, M. ;

Zipfel, P. F. ;

Hageman, G. S. ;

Smith, R. J. H. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (07) :582-589

[2]

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

[3]

Gene expression profiling in human autoimmunity [J].

Baechler, EC ;

Batliwalla, FM ;

Reed, AM ;

Peterson, EJ ;

Gaffney, PM ;

Moser, KL ;

Gregersen, PK ;

Behrens, TW .

IMMUNOLOGICAL REVIEWS, 2006, 210 :120-137

[4]

An interferon signature in the peripheral blood of dermatomyositis patients is associated with disease activity [J].

Baechler, Emily C. ;

Bauer, Jason W. ;

Slattery, Catherine A. ;

Ortmann, Ward A. ;

Espe, Karl J. ;

Novitzke, Jill ;

Ytterberg, Steven R. ;

Gregersen, Peter K. ;

Behrens, Timothy W. ;

Reed, Ann M. .

MOLECULAR MEDICINE, 2007, 13 (1-2) :59-68

[5]

Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus [J].

Bauer, Jason W. ;

Baechler, Emily C. ;

Petri, Michelle ;

Batliwalla, Franak M. ;

Crawford, Dianna ;

Ortmann, Ward A. ;

Espe, Karl J. ;

Li, Wentian ;

Patel, Dhavalkumar D. ;

Gregersen, Peter K. ;

Behrens, Timothy W. .

PLOS MEDICINE, 2006, 3 (12) :2274-2284

[6]

Interferon-Regulated Chemokines as Biomarkers of Systemic Lupus Erythematosus Disease Activity A Validation Study [J].

Bauer, Jason W. ;

Petri, Michelle ;

Batliwalla, Franak M. ;

Koeuth, Thearith ;

Wilson, Joseph ;

Slattery, Catherine ;

Panoskaltsis-Mortari, Angela ;

Gregersen, Peter K. ;

Behrens, Timothy W. ;

Baechler, Emily C. .

ARTHRITIS AND RHEUMATISM, 2009, 60 (10) :3098-3107

[7]

TRAPing a new gene for autoimmunity [J].

Behrens, Timothy W. ;

Graham, Robert R. .

NATURE GENETICS, 2011, 43 (02) :90-91

[8]

Interferon and granulopoiesis signatures in systemic lupus erythematosus blood [J].

Bennett, L ;

Palucka, AK ;

Arce, E ;

Cantrell, V ;

Borvak, J ;

Banchereau, J ;

Pascual, V .

JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 197 (06) :711-723

[9]

Mortality in systemic lupus erythematosus [J].

Bernatsky, S. ;

Boivin, J. -F. ;

Joseph, L. ;

Manzi, S. ;

Ginzler, E. ;

Gladman, D. D. ;

Urowitz, M. ;

Fortin, P. R. ;

Petri, M. ;

Barr, S. ;

Gordon, C. ;

Bae, S. -C. ;

Isenberg, D. ;

Zoma, A. ;

Aranow, C. ;

Dooley, M. -A. ;

Nived, O. ;

Sturfelt, G. ;

Steinsson, K. ;

Alarcon, G. ;

Senecal, J. -L. ;

Zummer, M. ;

Hanly, J. ;

Ensworth, S. ;

Pope, J. ;

Edworthy, S. ;

Rahman, A. ;

Sibley, J. ;

El-Gabalawy, H. ;

McCarthy, T. ;

Pierre, Y. St. ;

Clarke, A. ;

Ramsey-Goldman, R. .

ARTHRITIS AND RHEUMATISM, 2006, 54 (08) :2550-2557

[10]

Induction of dendritic cell differentiation by IFN-α in systemic lupus erythematosus [J].

Blanco, P ;

Palucka, AK ;

Gill, M ;

Pascual, V ;

Banchereau, J .

SCIENCE, 2001, 294 (5546) :1540-1543

← 1 2 3 4 5 6 7 8 9 10 →