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

https://arctichealth.org/en/permalink/ahliterature90739
Source
Genes Immun. 2009 Jan;10(1):68-76
Publication Type
Article
Date
Jan-2009
Author
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
Author Affiliation
Section of Rheumatology, Uppsala University, Uppsala, Sweden. Gunnel.Nordmark@medsci.uu.se
Source
Genes Immun. 2009 Jan;10(1):68-76
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Asian Continental Ancestry Group - genetics - statistics & numerical data
Case-Control Studies
Cohort Studies
Confidence Intervals
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Gene Frequency
Haplotypes
Heterozygote
Humans
Interferon Regulatory Factors - genetics - immunology
Linear Models
Linkage Disequilibrium
Male
Middle Aged
Norway
Odds Ratio
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Probability
Risk factors
STAT4 Transcription Factor - genetics - immunology
Sjogren's Syndrome - genetics - immunology
Sweden
Abstract
Primary Sj?gren'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
PubMed ID
19092842 View in PubMed
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Mitochondrial DNA polymorphisms are associated with susceptibility and phenotype of systemic lupus erythematosus.

https://arctichealth.org/en/permalink/ahliterature89712
Source
Lupus. 2009 Apr;18(4):309-12
Publication Type
Article
Date
Apr-2009
Author
Jönsen A
Yu X
Truedsson L
Nived O
Sturfelt G
Ibrahim S
Bengtsson A
Author Affiliation
Department of Clinical Sciences, Lund University Hospital, Lund University, Lund, Sweden.
Source
Lupus. 2009 Apr;18(4):309-12
Date
Apr-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Antiphospholipid Syndrome - etiology - genetics
Child
Cohort Studies
DNA, Mitochondrial - genetics
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Lupus Erythematosus, Systemic - complications - genetics
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Sex Factors
Young Adult
Abstract
The objective of this study was to investigate the possible association between mitochondrial DNA polymorphisms and systemic lupus erythematosus (SLE). A cohort from the Department of Rheumatology, Lund University Hospital, Sweden, consisting of 166 unrelated SLE patients was investigated as well as 190 unrelated healthy blood donors. Mean age at SLE diagnosis was 39 years (range 10-83) and mean follow-up time was 16 years (range 1-44). There were 87% women among the lupus patients, and the control group consisted of 98 women and 92 men from the same geographical area and with a similar age and ethnicity. The mtDNA SNP nt16189C was associated with SLE (OR = 1.98, 95% CI 1.04-3.78, P = 0.05). In addition, SNP nt13708A was associated with SLE in males (OR = 3.46, 95% CI 1.08-11.1, P = 0.04), although the number of male patients was low. Furthermore, SNP nt10398A was associated with secondary anti-phospholipid syndrome (P = 0.017, OR 8.2, 95% CI 1.1-63). In conclusion, in this study, we have for the first time investigated the possible association between SLE disease and mitochondrial DNA polymorphisms. Altogether, these novel results suggest that mtDNA polymorphisms may be associated with development of SLE and may potentially be of importance in SLE pathogenesis.
PubMed ID
19276298 View in PubMed
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A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus.

https://arctichealth.org/en/permalink/ahliterature84765
Source
Tissue Antigens. 2007 Nov;70(5):412-4
Publication Type
Article
Date
Nov-2007
Author
Linga-Reddy M V Prasad
Gunnarsson I.
Svenungsson E.
Sturfelt G.
Jönsen A.
Truedsson L.
Nordmark G.
Rönnblom L.
Alarcón-Riquelme M E
Author Affiliation
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Source
Tissue Antigens. 2007 Nov;70(5):412-4
Date
Nov-2007
Language
English
Publication Type
Article
Keywords
Alleles
Case-Control Studies
Female
Genetic Predisposition to Disease
Genotype
Histocompatibility Antigens Class II
Humans
Lupus Erythematosus, Systemic - genetics
Male
Multiple Sclerosis - genetics
Myocardial Infarction - genetics
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide
Sweden
Trans-Activators - genetics
Abstract
Single-nucleotide polymorphisms (SNPs) in the major histocompatibility complex class II transactivator (MHC2TA) gene encoding the class II transactivator have been associated with multiple sclerosis, rheumatoid arthritis, and myocardial infarction in the Swedish population. We used a case-control approach to investigate the prevalence of a relevant variant in Swedish systemic lupus erythematosus (SLE) cohorts to determine whether SLE shares the same MHC2TA susceptibility allele as the other diseases. No differences were observed between cases and control subjects at either the allele or genotype levels. Furthermore, no significant correlations were found when comparing different clinical and serological SLE phenotypes. This particular polymorphism rs3087456 of the MHC2TA gene does not appear to influence genetic susceptibility to SLE in the Swedish population. We conclude that our data support neither allelic nor genotype association between the MHC2TA SNP and SLE.
PubMed ID
17711409 View in PubMed
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