IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis

Garnier, Sophie; Dieudé, Philippe; Michou, Laëtitia; Barbet, S.; Tan, Adrian; Lasbleiz, Sandra; Bardin, Thomas; Prum, Bernard; Cornélis, François

doi:10.1136/ard.2006.061390

Cited by 34 publications

(27 citation statements)

References 14 publications

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“…Equally however, there are also studies that do not agree with Irf5 associations with RA, so the link is not as robust as is observed with SLE (85,86).…”

Section: A C C E P T E D Accepted Manuscriptmentioning

confidence: 55%

Interferon regulatory factor 5 in human autoimmunity and murine models of autoimmune disease

Eames

Corbin

Udalova

2016

Translational Research

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“…Equally however, there are also studies that do not agree with Irf5 associations with RA, so the link is not as robust as is observed with SLE (85,86).…”

Section: A C C E P T E D Accepted Manuscriptmentioning

confidence: 55%

Interferon regulatory factor 5 in human autoimmunity and murine models of autoimmune disease

Eames

Corbin

Udalova

2016

Translational Research

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“…Using the binomial distribution, we had 88.5% power to detect a trend in favor of an association: probability of having the frequency in patients superior to that in controls following the binomial distribution for n observations (0-100 in our trio index) [13]. The Hardy-Weinberg equilibrium was checked in the control group (constituted by the nontransmitted parental chromosomes from trio) before analysis.…”

Section: Discussionmentioning

confidence: 99%

Association and Expression Study of PRKCH Gene in a French Caucasian Population with Rheumatoid Arthritis

et al. 2007

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We study the association between three protein kinase C, eta gene polymorphisms (+8134C/T, rs912620, rs959728), and susceptibility to rheumatoid arthritis. One hundred French Caucasian rheumatoid arthritis trio families were genotyped. Relative quantification of protein kinase C, eta mRNA expression was performed from whole blood in 24 unrelated rheumatoid arthritis patients and in 16 healthy controls. Our results showed no significant association or linkage between the protein kinase C, eta polymorphisms, and rheumatoid arthritis. The protein kinase C, eta mRNA was expressed at lower level in rheumatoid arthritis unrelated patients than in healthy controls. This study shows that protein kinase C, eta gene is not a Rheumatoid Arthritis major susceptibility genetic factor in the French Caucasian population. Furthermore, the lower expression of this gene in rheumatoid arthritis patients comparing to healthy controls suggests that protein kinase C, eta could be associated with the patho-physiologic mechanism of rheumatoid arthritis.

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“…Genetic data support this model as several loci have been identified that are associated with the risk of both SLE and RA, including HLA haplotypes, BLK [162], PTPN22 [144], STAT4 [32], FCGR2A [192], PRDM1 [192] and TNFAIP3. IRF5 has also been shown to be associated with RA in some studies [193,194], however, others have failed to demonstrate an association [195,196]. Although these two diseases do share some overlapping phenotypes, many key features are distinct and, consistent with this, many loci appear to be associated exclusively with one disease and not the other [197].…”

Section: Overlap Of Sle With Other Autoimmune and Inflammatory Disordersmentioning

confidence: 98%

Recent advances in the genetics of systemic lupus erythematosus

Flesher¹,

Sun²,

Behrens³

et al. 2010

Expert Review of Clinical Immunology

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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. Keywordsgenome-wide association studies; pathogenesis; systemic lupus erythematosus; Toll-like receptor signaling; type I interferon signaling Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease that predominantly affects women of childbearing age. The incidence of SLE in the general US population is approximately one in 2000, with a nine-to-one female gender bias and a two-tofourfold greater prevalence in non-Caucasian compared with Caucasian populations [1]. In SLE, the tissue deposition of autoantibodies and immune complexes (ICs) leads to destructive inflammation in many organ systems, including the skin, blood elements, joints, kidneys, serosa, CNS and other tissues. The clinical manifestations of SLE are diverse, with renal inflammation (glomerulonephritis) being the most common cause of morbidity and mortality. A hallmark of SLE is the production of autoantibodies directed against intracellular antigens, many of which are associated with the nucleic acids DNA or RNA [2]. The cellular and

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IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis

Abstract: Our results exclude the IRF5 rs2004640-T allele as a major genetic factor for RA in this French Caucasian population.

Cited by 34 publications

References 14 publications

Interferon regulatory factor 5 in human autoimmunity and murine models of autoimmune disease

Interferon regulatory factor 5 in human autoimmunity and murine models of autoimmune disease

Association and Expression Study of PRKCH Gene in a French Caucasian Population with Rheumatoid Arthritis

Recent advances in the genetics of systemic lupus erythematosus

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