openSNP | rs2004640

Links to SNPedia

Title	Summary
rs2004640 G/T	1.4x increased risk for sle
rs2004640 T/T	1.4x increased risk for sle
rs2004640 G/G	Normal; 0.9x decreased risk for rheumatoid arthritis

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Mai Tuyet Vuong	Genetic Risk Factors in Lupus Nephritis and IgA Nephropathy – No Support of an Overlap	2010	5365
F. David Carmona	The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis	2013	3728
Matthew J. Loza	Assembly of Inflammation-Related Genes for Pathway-Focused Genetic Analysis	2007	18410
Yannick Allanore	Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis	2011	6749
J. Matthew Mahoney	Systems Level Analysis of Systemic Sclerosis Shows a Network of Immune and Profibrotic Pathways Connected with Genetic Polymorphisms	2015	6143
Rivka C. Stone	RNA-Seq for Enrichment and Analysis of IRF5 Transcript Expression in SLE	2013	5911
Fei-Yan Deng	Functional Relevance for Associations between Genetic Variants and Systemic Lupus Erythematosus	2013	3433
Ana Márquez	Two Functional Variants of IRF5 Influence the Development of Macular Edema in Patients with Non-Anterior Uveitis	2013	1407
Hirofumi Nakaoka	A Systems Genetics Approach Provides a Bridge from Discovered Genetic Variants to Biological Pathways in Rheumatoid Arthritis	2011	5888
Olga Gorlova	Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy	2011	12627
Raphael Borie	The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population	2013	4206

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
H D Shin	Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population	2007		-
Yun Jung Kim	Putative role of functional interferon regulatory factor 5 (IRF5) polymorphism in rheumatoid arthritis in a Korean population.	2008	3	10.3899/jrheum.080114
Philippe Dieude	Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.	2010	3	10.3899/jrheum.091163
Robert R Graham	A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.	2006	0	10.1038/ng1782
Lianxiang Qin	Association of IRF5 gene polymorphisms and lupus nephritis in a Chinese population.	2010		-
Masakatsu Yanagimachi	Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children	2011	13	10.1007/s10875-011-9583-x
S Vosslamber	Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonbeta therapy in multiple sclerosis.	2011	1	10.1038/gene.2011.18
M. YANAGIMACHI	Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis	2011	6	10.3899/jrheum.100655
Ana M??rquez	Two Functional Variants of IRF5 Influence the Development of Macular Edema in Patients with Non-Anterior Uveitis	2013	1	10.1371/journal.pone.0076777
Robert R Graham	A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.	2006	9	-
Sophie Garnier	IRF5 rs2004640‐T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis	2007	0	10.1136/ard.2006.061390
Rebeca Dieguez-Gonzalez	Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis.	2008	0
F. David Carmona	The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis	2013	4	10.1371/journal.pone.0054419
Hyoung Doo Shin	Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population.	2007	9	10.1186/ar2152
Yun Jung Kim	Putative role of functional interferon regulatory factor 5 (IRF5) polymorphism in rheumatoid arthritis in a Korean population.	2008	0
Matija Hedl	IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.	2012	15	10.4049/jimmunol.1103319
Young Ho Lee	Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis.	2009	0
Rebeca Dieguez-Gonzalez	Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis.	2008	9	10.1002/art.23426
Wei-qing Song	Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population	2009	0
Xu-Jie Zhou	Association of TLR9 gene polymorphisms with lupus nephritis in a Chinese Han population.	2010	0	10.1111/j.1440-1797.2010.01327.x
H D Shin	Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population	2007		-
P Dieude	Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis	2009		10.1002/art.24183
V Saskia	IRF5 gene variant as biomarker to predict the interferon beta response in multiple sclerosis	2010	3	10.1177/1352458510383204
Daniel N Clark	Four Promoters of IRF5 Respond Distinctly to Stimuli and are Affected by Autoimmune-Risk Polymorphisms.	2013	2	10.3389/fimmu.2013.00360
A Maalej	Association of IRF5 gene polymorphisms with rheumatoid arthritis in a Tunisian population.	2008	0
F Y Demirci	Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE)	2007	1	AHG336 [pii] 10.1111/j.1469-1809.2006.00336.x [doi]
Orlando Torres	Lack of association between IRF5 gene polymorphisms and biopsy-proven giant cell arteritis.	2010	0
Hyoung Doo Shin	Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population	2007	0	10.1186/ar2152
Young Ho Lee	Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis.	2009	1	10.1007/s00296-008-0801-7
Young Ho Lee	Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis.	2009	4	10.1007/s00296-008-0801-7
S Vosslamber	Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonβ therapy in multiple sclerosis.	2011	25	10.1038/gene.2011.18
F Y K Demirci	Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE).	2007	0
P Dieudé	Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.	2009	9	10.1002/art.24183
Sophie Garnier	IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis.	2007	6	10.1136/ard.2006.061390
S Vosslamber	Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of InterferonB therapy in multiple sclerosis	2011	1
Sergey V Kozyrev	Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.	2007	10	10.1002/art.22497
Orlando Torres	Lack of association between IRF5 gene polymorphisms and biopsy-proven giant cell arteritis.	2010	2	10.3899/jrheum.090744
Robert R Graham	A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.	2006	57	10.1038/ng1782
Matija Hedl	IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.	2012	11	10.4049/jimmunol.1103319
Matija Hedl	IRF5 Risk Polymorphisms Contribute to Interindividual Variance in Pattern Recognition Receptor-Mediated Cytokine Secretion in Human Monocyte-Derived Cells.	2012	1	10.4049/jimmunol.1103319
Young Ho Lee	Associations between interferon regulatory factor 5 polymorphisms and rheumatoid arthritis: a meta-analysis	2012	1	10.1007/s11033-012-2233-4
Lianxiang Qin	Association of IRF5 gene polymorphisms and lupus nephritis in a Chinese population.	2010	3	10.1111/j.1440-1797.2010.01327.x
J A Kelly	Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans.	2008	3	10.1038/gene.2008.4
J A Kelly	Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans	2008	2	gene20084 [pii]\r10.1038/gene.2008.4
D Feng	Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus	2010	6	10.1002/art.27223
F Y K Demirci	Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE).	2007	3	10.1111/j.1469-1809.2006.00336.x
Matija Hedl	IRF5 Risk Polymorphisms Contribute to Interindividual Variance in Pattern Recognition Receptor-Mediated Cytokine Secretion in Human Monocyte-Derived Cells.	2012	0	10.4049/jimmunol.1103319
P Dieudé	Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.	2009	0

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

There are no results from genome.gov yet. Please come back later.

Name	rs2004640
Chromosome	7
Position	128938247
Weight of evidence	85

SNP rs2004640

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts