Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome

Primary Sjögren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-...

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Veröffentlicht in:Genes and immunity 2009-01, Vol.10 (1), p.68-76
Hauptverfasser: Nordmark, G, Kristjansdottir, G, Theander, E, Eriksson, P, Brun, J G, Wang, C, Padyukov, L, Truedsson, L, Alm, G, Eloranta, M-L, Jonsson, R, Rönnblom, L, Syvänen, A-C
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container_end_page 76
container_issue 1
container_start_page 68
container_title Genes and immunity
container_volume 10
creator Nordmark, G
Kristjansdottir, G
Theander, E
Eriksson, P
Brun, J G
Wang, C
Padyukov, L
Truedsson, L
Alm, G
Eloranta, M-L
Jonsson, R
Rönnblom, L
Syvänen, A-C
description Primary Sjögren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5 , the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) >1.4 and P -values
doi_str_mv 10.1038/gene.2008.94
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Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Linköpings universitet</collection><collection>SWEPUB Uppsala universitet</collection><collection>SWEPUB Lunds universitet</collection><jtitle>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nordmark, G</au><au>Kristjansdottir, G</au><au>Theander, E</au><au>Eriksson, P</au><au>Brun, J G</au><au>Wang, C</au><au>Padyukov, L</au><au>Truedsson, L</au><au>Alm, G</au><au>Eloranta, M-L</au><au>Jonsson, R</au><au>Rönnblom, L</au><au>Syvänen, A-C</au><aucorp>Sveriges lantbruksuniversitet</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>10</volume><issue>1</issue><spage>68</spage><epage>76</epage><pages>68-76</pages><issn>1466-4879</issn><issn>1476-5470</issn><eissn>1476-5470</eissn><abstract>Primary Sjögren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5 , the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) &gt;1.4 and P -values &lt;0.01. We also found a strong additive effect of the three risk alleles of IRF5 and STAT4 with an overall significance between the number of risk alleles and primary SS of P =2.5 × 10 −9 . The OR for primary SS increased in an additive manner, with an average increase in OR of 1.78. For carriers of two risk alleles, the OR for primary SS is 1.43, whereas carriers of five risk alleles have an OR of 6.78. IRF5 and STAT4 are components of the type I IFN system, and our findings emphasize the importance of this system in the etiopathogenesis of primary SS.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>19092842</pmid><doi>10.1038/gene.2008.94</doi><tpages>9</tpages></addata></record>
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recordid cdi_swepub_primary_oai_swepub_ki_se_560631
source MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SpringerLink Journals - AutoHoldings
subjects Aged
Alleles
Animal and Dairy Science
Antibodies
Asian Continental Ancestry Group - genetics
Asian Continental Ancestry Group - statistics & numerical data
Basic Medicine
Biomedical and Life Sciences
Biomedicine
Cancer Research
Case-Control Studies
Cohort Studies
Confidence Intervals
Cytokines
Dendritic cells
Diagnosis
DNA binding proteins
European Continental Ancestry Group - genetics
European Continental Ancestry Group - statistics & numerical data
Female
Gene Expression
Gene Frequency
Genes
Genetic aspects
Haplotypes
Health aspects
Heterozygote
Hospitals
Human Genetics
Humans
Husdjursvetenskap
Immunologi inom det medicinska området
Immunology
Immunology in the medical area
insertion-deletion polymorphism
Interferon
Interferon Regulatory Factors - genetics
Interferon Regulatory Factors - immunology
IRF5
Linear Models
Linkage Disequilibrium
Lupus
Male
Medical and Health Sciences
MEDICIN
Medicin och hälsovetenskap
MEDICINE
Medicinska och farmaceutiska grundvetenskaper
Middle Aged
Norway
Odds Ratio
original-article
Physiological aspects
Polymorphism
Polymorphism, Genetic
Polymorphism, Single Nucleotide
polymorphisms
primary Sjogren's syndrome
primary Sjogrens syndrome
primary Sjögren's syndrome
Probability
Rheumatology
Risk Factors
single nucleotide
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Sjogren's syndrome
Sjogren's Syndrome - genetics
Sjogren's Syndrome - immunology
STAT4
Stat4 protein
STAT4 Transcription Factor - genetics
STAT4 Transcription Factor - immunology
Sweden
Systemic lupus erythematosus
Veterinary Science
Veterinärmedicin
title Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome
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