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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
Less detail

Association between genetic variants in the tumour necrosis factor/lymphotoxin a/lymphotoxin ß locus and primary Sjogren's syndrome in Scandinavian samples.

https://arctichealth.org/en/permalink/ahliterature127439
Source
Ann Rheum Dis. 2012 Jun;71(6):981-8
Publication Type
Article
Date
Jun-2012
Author
Anne Isine Bolstad
Stephanie Le Hellard
Gudlaug Kristjansdottir
Lilian Vasaitis
Marika Kvarnström
Christopher Sjöwall
Svein Joar Auglænd Johnsen
Per Eriksson
Roald Omdal
Johan G Brun
Marie Wahren-Herlenius
Elke Theander
Ann-Christine Syvänen
Lars Rönnblom
Gunnel Nordmark
Roland Jonsson
Author Affiliation
Department of Clinical Dentistry--Periodontics, University of Bergen, Bergen, Norway. anne.bolstad@iko.uib.no
Source
Ann Rheum Dis. 2012 Jun;71(6):981-8
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Cohort Studies
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genetic Variation
Haplotypes
Humans
Linkage Disequilibrium
Lymphotoxin-alpha - genetics - immunology
Lymphotoxin-beta - genetics - immunology
Male
Middle Aged
Norway - epidemiology
Polymorphism, Single Nucleotide
Risk factors
Salivary Glands - immunology
Sjogren's Syndrome - epidemiology - genetics - immunology
Sweden - epidemiology
Tumor Necrosis Factor-alpha - genetics - immunology
Abstract
Lymphotoxin ? (LTB) has been found to be upregulated in salivary glands of patients with primary Sj?gren's syndrome (pSS). An animal model of pSS also showed ablation of the lymphoid organisation and a marked improvement in salivary gland function on blocking the LTB receptor pathway. This study aimed to investigate whether single-nucleotide polymorphisms (SNP) in the lymphotoxin a (LTA)/LTB/tumour necrosis factor (TNF) gene clusters are associated with pSS.
527 pSS patients and 532 controls participated in the study, all of Caucasian origin from Sweden and Norway. 14 SNP markers were genotyped and after quality control filtering, 12 SNP were analysed for their association with pSS using single marker and haplotype tests, and corrected by permutation testing.
Nine markers showed significant association with pSS at the p=0.05 level. Markers rs1800629 and rs909253 showed the strongest genotype association (p=1.64E-11 and p=4.42E-08, respectively, after correcting for sex and country of origin). When the analysis was conditioned for the effect of rs1800629, only the association with rs909253 remained nominally significant (p=0.027). In haplotype analyses the strongest effect was observed for the haplotype rs909253G_rs1800629A (p=9.14E-17). The associations were mainly due to anti-Ro/SSA and anti-La/SSB antibody-positive pSS.
A strong association was found between several SNP in the LTA/LTB/TNFa locus and pSS, some of which led to amino acid changes. These data suggest a role for this locus in the development of pSS. Further studies are needed to examine if the genetic effect described here is independent of the known genetic association between HLA and pSS.
PubMed ID
22294627 View in PubMed
Less detail

Exploring the association between serum 25-hydroxyvitamin D and serum lipids-more than confounding?

https://arctichealth.org/en/permalink/ahliterature298629
Source
Eur J Clin Nutr. 2018 04; 72(4):526-533
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
04-2018
Author
Rolf Jorde
Guri Grimnes
Author Affiliation
Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway. rolf.jorde@unn.no.
Source
Eur J Clin Nutr. 2018 04; 72(4):526-533
Date
04-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Aged
Cholesterol - blood
Cross-Sectional Studies
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Genotype
Humans
Male
Middle Aged
Norway - epidemiology
Triglycerides - blood
Vitamin D - analogs & derivatives - blood
Abstract
In observational, but not interventional, studies there are strong associations between serum 25-hydroxyvitamin D (25(OH)D) and serum lipids. The purpose of the present study was to examine potential causes of this association.
A total of 17,411 subjects participating in the seventh survey of the Tromsø Study were included in the cross-sectional study; 5384 subjects who participated in both the sixth and seventh survey were included in the longitudinal study; 2365 subjects who participated in both the fourth and seventh survey were included in the genetic study; and 479 subjects with impaired glucose tolerance were included in the vitamin D binding protein (DBP) analyses.
For serum 25(OH)D, there were strong and positive associations with LDL-, HDL-, and total-cholesterol, and a negative association with triglycerides that remained after adjustment for gender, age, BMI, diet, supplements, and lifestyle factors. These associations were seen in winter as well as summer. Except for serum cholesterol, change of season for blood sampling did not affect lipid levels. However, when analyzing separately, subjects with low or no intake of vitamin D supplements, fish oil and fat fish, only the association between 25(OH)D and HDL-cholesterol remained significant. Serum DBP or single-nucleotide polymorphisms related to 25(OH)D had no relation to lipid levels.
The associations between 25(OH)D and lipids (except for HDL-cholesterol) can be explained by known confounding factors. However, for HDL-cholesterol, the cause of the association with 25(OH)D still remains unknown.
PubMed ID
29434318 View in PubMed
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Interactions between hepatic lipase and apolipoprotein E gene polymorphisms affect serum lipid profiles of healthy Canadian adults.

https://arctichealth.org/en/permalink/ahliterature156069
Source
Appl Physiol Nutr Metab. 2008 Aug;33(4):761-8
Publication Type
Article
Date
Aug-2008
Author
Kevin C M Wood
Morgan D Fullerton
Ahmed El-Sohemy
Marica Bakovic
Author Affiliation
Department of Human Health and Nutritional Sciences, University of Guelph, Guelph, ON.
Source
Appl Physiol Nutr Metab. 2008 Aug;33(4):761-8
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Adult
Apolipoproteins E - blood - genetics
Asian Continental Ancestry Group - genetics - statistics & numerical data
Canada
Cholesterol - blood - genetics
Cross-Sectional Studies
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Humans
Lipase - blood - genetics
Lipids - blood - genetics
Liver - enzymology
Male
Polymorphism, Genetic - genetics
Reference Values
Sex Distribution
Triglycerides - blood - genetics
Young Adult
Abstract
The purpose of this study was to assess the individual and interactive effects between hepatic lipase (LIPC; C-514T, G-250A) and apolipoprotein E (APOE) (E2, E3, E4) gene polymorphisms on levels of plasma lipoprotein cholesterol and triglyceride among healthy, young, Canadian adults (n = 440). All subjects with at least one APOE2 allele had significantly lower low-density lipoprotein cholesterol, total cholesterol, and total cholesterol - high-density lipoprotein cholesterol ratio when compared with those with the APOE3 or APOE4 allele. There were significant differences in the LIPC allele and genotype frequencies between Caucasian (n = 207) and Asian (n = 211) individuals, but ethnicity did not contribute to the variations in circulating lipids. In addition, the lowest triglyceride levels (0.87 +/- 0.27 mmol.mL(-1)) were found in all APOE2 individuals carrying LIPC-514-CC and LIPC-250-GG genotypes, whereas the highest triglyceride levels (1.29 +/- 0.34 -1.32 +/- 0.32 mmol.mL(-1)) were found in APOE2 individuals carrying the opposite genotypes, LIPC-514TT and LIPC-250AA. These observations, distinct from the anti-atherogenic effects of APOE2 through the lowering of low-density lipoprotein cholesterol and LIPC on high-density lipoprotein cholesterol, suggest that there is an interactive effect between APOE and LIPC genotypes on plasma triglyceride levels. These results provide the basis for further studies on establishing which genotype combinations would be the most protective against hypertriglyceridemia.
PubMed ID
18641720 View in PubMed
Less detail

Joint effect of glutathione S-transferase genotypes and cigarette smoking on idiopathic male infertility.

https://arctichealth.org/en/permalink/ahliterature274731
Source
Andrologia. 2015 Nov;47(9):980-6
Publication Type
Article
Date
Nov-2015
Author
S L Yarosh
E V Kokhtenko
M I Churnosov
M A Solodilova
A V Polonikov
Source
Andrologia. 2015 Nov;47(9):980-6
Date
Nov-2015
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
European Continental Ancestry Group - genetics - statistics & numerical data
Gene-Environment Interaction
Genotype
Glutathione S-Transferase pi - genetics
Glutathione Transferase - genetics
Humans
Infertility, Male - epidemiology - genetics
Male
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Russia - epidemiology
Smoking - epidemiology
Abstract
Inconsistent results of association studies investigated the role of glutathione S-transferase genes in idiopathic male infertility may be explained by ethnical differences in gene-gene and gene-environment interactions. In this study, we investigated a joint contribution of GSTM1, GSTT1 and GSTP1 gene polymorphisms and cigarette smoking to the risk of idiopathic infertility in Russian men. DNA samples from 203 infertile and 227 fertile men were genotyped by a multiplex polymerase chain reaction (GSTM1 and GSTT1 deletions) and PCR-restriction fragment length polymorphism (GSTP1 I105V) methods. The GSTP1 genotype 105IV was associated with increased risk of male infertility (OR = 1.50 95% CI 1.02-2.20 P = 0.04). Genotype combinations GSTP1 105II/GSTT1 del (G1), GSTM1 del/GSTT1 del (G2) and GSTM1 + /GSTT1 del (G3) were associated with decreased risk of male infertility (P = 0.003), whereas a genotype combination GSTP1 105IV/GSTT1 + (G4) was associated with increased disease risk (P = 0.001). The genotype combinations G3 and G4 showed a significant association with infertility in smokers; however, nonsmokers carriers did show the disease risk. In conclusion, GSTM1, GSTT1 and GSTP1 genes are collectively involved in the development of idiopathic male infertility and their phenotypic effects on the disease risk are potentiated by cigarette smoking.
PubMed ID
25348056 View in PubMed
Less detail

Lack of association of CD36 SNPs with early onset obesity: a meta-analysis in 9,973 European subjects.

https://arctichealth.org/en/permalink/ahliterature139900
Source
Obesity (Silver Spring). 2011 Apr;19(4):833-9
Publication Type
Article
Date
Apr-2011
Author
Hélène Choquet
Yann Labrune
Franck De Graeve
Anke Hinney
Johannes Hebebrand
André Scherag
Cécile Lecoeur
Maithé Tauber
Beverley Balkau
Paul Elliot
Marjo-Riita Jarvelin
Andrew J Walley
Philippe Besnard
Philippe Froguel
David Meyre
Author Affiliation
CNRS-UMR8199-Institute of Biology, Pasteur Institute, Lille, France.
Source
Obesity (Silver Spring). 2011 Apr;19(4):833-9
Date
Apr-2011
Language
English
Publication Type
Article
Keywords
Adipose Tissue - metabolism
Adolescent
Adult
Alleles
Antigens, CD36 - genetics
Body mass index
Case-Control Studies
Child
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Finland
France
Genetic Loci
Genetic Predisposition to Disease - epidemiology
Genetic Variation
Genome-Wide Association Study
Genotype
Germany
Humans
Male
Middle Aged
Obesity - genetics
Polymorphism, Single Nucleotide
Young Adult
Abstract
A recent study suggested that four CD36 polymorphisms (namely rs3211867, rs3211883, rs3211908, and rs1527483) were associated with an increased risk of obesity, an increased BMI and percentage of body fat in European adolescents. We first attempted to confirm these results in three independent case-control genome-wide association studies (GWAS) data totaling 3,509 subjects of French and German origin, but we were unable to find any association of these variants with early onset obesity risk. We then genotyped the four CD36 single-nucleotide polymorphisms (SNPs) in a large population-based study of 4,667 Finnish subjects and we did not replicate any of the recently reported associations with BMI. By combining all available data in a meta-analysis (N = 9,973), we found no evidence for an association of the reported four variants in CD36 with increased obesity risk or increased BMI (0.07 = P values = 0.93). Finally, we assessed the contribution of the full CD36 locus gene variation to obesity risk in 3,509 subjects and we did not detect any significant association with obesity after correction for multiple testing. In summary, we were unable to confirm the recently reported association of variants in CD36 with early onset obesity in populations of European ancestry.
PubMed ID
20966904 View in PubMed
Less detail

Multifactorial analysis of changes in body mass index across the adult life course: a study with 65 years of follow-up.

https://arctichealth.org/en/permalink/ahliterature262871
Source
Int J Obes (Lond). 2014 Aug;38(8):1133-41
Publication Type
Article
Date
Aug-2014
Author
A K Dahl
C A Reynolds
T. Fall
P K E Magnusson
N L Pedersen
Source
Int J Obes (Lond). 2014 Aug;38(8):1133-41
Date
Aug-2014
Language
English
Publication Type
Article
Keywords
Aged
Aging
Body mass index
Diabetes Mellitus, Type 2 - physiopathology
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Follow-Up Studies
Humans
Life Style
Male
Middle Aged
Obesity - complications - epidemiology - etiology - genetics
Polymorphism, Single Nucleotide
Questionnaires
Risk factors
Sex Factors
Sweden - epidemiology
Time Factors
Weight Gain
Abstract
Although the negative consequences on health of being obese are well known, most adults gain weight across the lifespan. The general increase in body mass index (BMI) is mainly considered to originate from behavioral and environmental changes; however, few studies have evaluated the influence of these factors on change in BMI in the presence of genetic risk. We aimed to study the influence of multifactorial causes of change in BMI, over 65 years.
Totally, 6130 participants from TwinGene, who had up to five assessments, and 536 from the Swedish Adoption/Twin Study of Aging, who had up to 12 assessments, ranging over 65 years were included. The influence of lifestyle factors, birth cohort, cardiometabolic diseases and an individual obesity genetic risk score (OGRS) based on 32 single nucleotide polymorphisms on change in BMI was evaluated with a growth model. For both sexes, BMI increased from early adulthood to age of 65 years, after which the increase leveled off; BMI declined after age of 80 years. A higher OGRS, birth after 1925 and cardiometabolic diseases were associated with higher average BMI and a steeper increase in BMI prior to 65 years of age. Among men, few factors were identified that influence BMI trajectories in late life, whereas for women type 2 diabetes mellitus and dementia were associated with a steeper decrease in BMI after the age of 65 years.
There are two turning points in BMI in late adulthood, one at the age of 65 years and one at the age 80 years. Factors associated with an increase in BMI in midlife were not associated with an increase in BMI after the age of 65 years. These findings indicate that the causes and consequences of change in BMI differ across the lifespan. Current health recommendations need to be adjusted accordingly.
Notes
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PubMed ID
24193660 View in PubMed
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Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.

https://arctichealth.org/en/permalink/ahliterature114099
Source
Ann Med. 2013 Jun;45(4):328-35
Publication Type
Article
Date
Jun-2013
Author
Annukka M Lahtinen
Aki S Havulinna
Peter A Noseworthy
Antti Jula
Pekka J Karhunen
Markus Perola
Christopher Newton-Cheh
Veikko Salomaa
Kimmo Kontula
Author Affiliation
Research Programs Unit, Molecular Medicine and Department of Medicine, University of Helsinki, Helsinki, Finland.
Source
Ann Med. 2013 Jun;45(4):328-35
Date
Jun-2013
Language
English
Publication Type
Article
Keywords
Adult
Aged
Arrhythmias, Cardiac - epidemiology - genetics
Death, Sudden, Cardiac - epidemiology
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Finland - epidemiology
Genetic Predisposition to Disease - epidemiology
Genetic Variation - genetics
Humans
Male
Middle Aged
Mutation
Polymorphism, Genetic
Potassium Channels - genetics
Prevalence
Risk factors
Abstract
Sudden cardiac death (SCD) remains a major cause of death in Western countries. It has a heritable component, but previous molecular studies have mainly focused on common genetic variants. We studied the prevalence, clinical phenotypes, and risk of SCD presented by ten rare mutations previously associated with arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, or catecholaminergic polymorphic ventricular tachycardia.
The occurrence of ten arrhythmia-associated mutations was determined in four large prospective population cohorts (FINRISK 1992, 1997, 2002, and Health 2000, n = 28,465) and two series of forensic autopsies (The Helsinki Sudden Death Study and The Tampere Autopsy Study, n = 825). Follow-up data were collected from national registries.
The ten mutations showed a combined prevalence of 79 per 10,000 individuals in Finland, and six of them showed remarkable geographic clustering. Of a total of 715 SCD cases, seven (1.0%) carried one of the ten mutations assayed: three carried KCNH2 R176W, one KCNH2 L552S, two PKP2 Q59L, and one RYR2 R3570W.
Arrhythmia-associated mutations are prevalent in the general Finnish population but do not seem to present a major risk factor for SCD, at least during a mean of 10-year follow-up of a random adult population sample.
Notes
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PubMed ID
23651034 View in PubMed
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Prevalence of genetic variants associated with inflammatory bowel disease in a healthy First Nations cohort.

https://arctichealth.org/en/permalink/ahliterature125281
Source
CMAJ. 2012 May 15;184(8):E435-41
Publication Type
Article
Date
May-15-2012
Author
Travis B Murdoch
Charles N Bernstein
Hani El-Gabalawy
Joanne M Stempak
Michael Sargent
Brenda Elias
Wei Xu
Saad Pathan
Mark S Silverberg
Author Affiliation
Inflammatory Bowel Disease Group, Mount Sinai Hospital, University of Toronto, Toronto, Ont.
Source
CMAJ. 2012 May 15;184(8):E435-41
Date
May-15-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Cohort Studies
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Genetic Association Studies
Genotype
Heterozygote
Humans
Indians, North American - genetics - statistics & numerical data
Inflammatory Bowel Diseases - epidemiology - genetics
Linkage Disequilibrium - genetics
Logistic Models
Male
Manitoba - epidemiology
Middle Aged
Nod2 Signaling Adaptor Protein - genetics
Polymorphism, Single Nucleotide - genetics
Prevalence
Young Adult
Abstract
Inflammatory bowel disease is the result of both genes and environment. Canadian First Nations people, despite living in a region with a high prevalence of inflammatory bowel disease, are relatively protected from this disease. We aimed to compare the carriage of genetic variants associated with inflammatory bowel disease in healthy First Nations and white people.
DNA was extracted from the venous blood of healthy First Nations (n = 340) and white (n = 285) participants from Manitoba. Genotyping was performed for 69 single nucleotide polymorphisms (SNPs) with known or suspected associations with inflammatory bowel disease. We compared the genotypes between groups by logistic regression, adjusting for multiple testing. We calculated a risk score for the NOD2 gene by adding the number of risk alleles at three important NOD2 SNPs (G908R, R702W and 3020insC).
We found genetic variation between white and First Nations participants at 45 of 69 SNPs. Notably, carriage of the ATG16L1 T300A mutation was lower in First Nations participants (p = 4.1 × 10(-30)). Cumulative carriage of important NOD2 variants was significantly lower among First Nations participants (3.9% v. 15.2%; p
Notes
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Erratum In: CMAJ. 2012 Jul 10;184(10):1176
PubMed ID
22496383 View in PubMed
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Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.

https://arctichealth.org/en/permalink/ahliterature13695
Source
Am J Hum Genet. 2005 Dec;77(6):1044-60
Publication Type
Article
Date
Dec-2005
Author
Robert M Plenge
Leonid Padyukov
Elaine F Remmers
Shaun Purcell
Annette T Lee
Elizabeth W Karlson
Frederick Wolfe
Daniel L Kastner
Lars Alfredsson
David Altshuler
Peter K Gregersen
Lars Klareskog
John D Rioux
Author Affiliation
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Source
Am J Hum Genet. 2005 Dec;77(6):1044-60
Date
Dec-2005
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Alleles
Antigens, Differentiation - genetics
Arthritis, Rheumatoid - epidemiology - genetics
Case-Control Studies
Cohort Studies
Comparative Study
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Genetic Predisposition to Disease - epidemiology - genetics
Humans
Hydrolases - genetics
Male
Middle Aged
North America - epidemiology
Odds Ratio
Protein-Tyrosine-Phosphatase - genetics
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Retrospective Studies
Review Literature
Sex Factors
Sweden - epidemiology
Variation (Genetics)
Abstract
Candidate-gene association studies in rheumatoid arthritis (RA) have lead to encouraging yet apparently inconsistent results. One explanation for the inconsistency is insufficient power to detect modest effects in the context of a low prior probability of a true effect. To overcome this limitation, we selected alleles with an increased probability of a disease association, on the basis of a review of the literature on RA and other autoimmune diseases, and tested them for association with RA susceptibility in a sample collection powered to detect modest genetic effects. We tested 17 alleles from 14 genes in 2,370 RA cases and 1,757 controls from the North American Rheumatoid Arthritis Consortium (NARAC) and the Swedish Epidemiological Investigation of Rheumatoid Arthritis (EIRA) collections. We found strong evidence of an association of PTPN22 with the development of anti-citrulline antibody-positive RA (odds ratio [OR] 1.49; P=.00002), using previously untested EIRA samples. We provide support for an association of CTLA4 (CT60 allele, OR 1.23; P=.001) and PADI4 (PADI4_94, OR 1.24; P=.001) with the development of RA, but only in the NARAC cohort. The CTLA4 association is stronger in patients with RA from both cohorts who are seropositive for anti-citrulline antibodies (P=.0006). Exploration of our data set with clinically relevant subsets of RA reveals that PTPN22 is associated with an earlier age at disease onset (P=.004) and that PTPN22 has a stronger effect in males than in females (P=.03). A meta-analysis failed to demonstrate an association of the remaining alleles with RA susceptibility, suggesting that the previously published associations may represent false-positive results. Given the strong statistical power to replicate a true-positive association in this study, our results provide support for PTPN22, CTLA4, and PADI4 as RA susceptibility genes and demonstrate novel associations with clinically relevant subsets of RA.
PubMed ID
16380915 View in PubMed
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