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Article
Genome-wide association study biomarkers in T-cell mediated rejection: selective effect according to the Banff classification
A genome-wide association study (GWAS) in kidney transplant recipients reported the association of two polymorphisms located in the PTPRO gene and upstream of the CCDC67 (DEUP1) gene with increased risk of acute ...
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Article
Open AccessSerum levels of IgM to phosphatidylcholine predict the response of multiple sclerosis patients to natalizumab or IFN-β
We developed an ELISA assay demonstrating the high prevalence of serum IgM to phosphatidylcholine (IgM-PC) in the first stages of multiple sclerosis (MS). We aimed to analyze the role of serum IgM-PC as a biom...
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Article
Open AccessHigh prevalence of intrathecal IgA synthesis in multiple sclerosis patients
The detection of intrathecal IgA synthesis (IAS) in multiple sclerosis (MS) could be underestimated. To assess it, we develop a highly sensitive assay based on isoelectric focusing (IEF). 151 MS patients and 5...
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Article
Open AccessGenetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients
One of the 233 polymorphisms associated with multiple sclerosis (MS) susceptibility lies within the NDFIP1 gene, and it was previously identified as eQTL in healthy controls. NDFIP1 shows interesting immune funct...
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Article
Open AccessInfluence of HLA on clinical and analytical features of pediatric celiac disease
Celiac disease (CD) is triggered by gluten and related prolamines in genetically susceptible individuals. We aimed to investigate the influence of HLA-DQ genotypes in clinical, serological and histological fea...
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Article
Open AccessFunctional implications of single nucleotide polymorphisms rs662 and rs854860 on the antioxidative activity of paraoxonase1 (PON1) in patients with rheumatoid arthritis
Atherosclerosis leading to cardiovascular disease (CVD) is the main cause of mortality and morbidity in patients with rheumatoid arthritis (RA). Paraoxonase1 (PON1) is the best understood member of plasma para...
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Article
Open AccessExome sequencing study in patients with multiple sclerosis reveals variants associated with disease course
It remains unclear whether disease course in multiple sclerosis (MS) is influenced by genetic polymorphisms. Here, we aimed to identify genetic variants associated with benign and aggressive disease courses in...
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Article
Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
Paola Bronson, Lennart Hammarström and colleagues report a genome-wide association study meta-analysis of selective IgA immunodeficiency in Europeans. They identify four new loci and a rare variant of a previo...
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Article
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia
Johannes Schumacher and colleagues report the results of a genetic association study of idiopathic achalasia, a rare motility disorder of the esophagus. They show that common variation in the HLA-DQ region is str...
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Article
Open AccessHERV-W polymorphism in chromosome X is associated with multiple sclerosis risk and with differential expression of MSRV
Multiple Sclerosis (MS) is an autoimmune demyelinating disease that occurs more frequently in women than in men. Multiple Sclerosis Associated Retrovirus (MSRV) is a member of HERV-W, a multicopy human endogen...
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Article
Combined influence of genetic and environmental factors in age of rheumatoid arthritis onset
To study the combined effect of both genetic and environmental factors in the age of rheumatoid arthritis onset. Patients (n = 507). Shared epitope characterization was performed using Lifecodes HLA-SSO. Genotypi...
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Article
Dense genoty** identifies and localizes multiple common and rare variant association signals in celiac disease
David van Heel, Cisca Wijmenga and colleagues used a custom, high-density genoty** chip to examine 183 immune-related loci for their role in celiac disease. They report 13 new regions associated with celiac ...
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Article
A polymorphism in PTPN2 gene is associated with an earlier onset of type 1 diabetes
The Wellcome Trust Case Control Consortium (WTCCC) genome-wide study found association of PTPN2 with three autoimmune diseases, among them is type 1 diabetes (T1D). This result was confirmed by a follow-up study ...
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Article
Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity
Soluble interleukin-6 receptor α subunit (sIL-6R) is primarily generated by shedding of the membrane-bound form. This process is influenced by the single nucleotide polymorphism rs8192284 (A > C) resulting in ...
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Article
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency
Lennart Hammarström, Tim Behrens and colleagues report the results of a genome wide association study of selective immunoglobulin A deficiency, the most common form of primary immunodeficiency in humans. They ...
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Article
Correction: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression
Nat. Genet.; doi:10.1038/ng.543; corrected online 12 March 2010 In the version of this article initially published online, the P value ranges in the second paragraph of the Results section under (iii) and (iv)...
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Article
Multiple common variants for celiac disease influencing immune gene expression
David van Heel and colleagues report results of a large genome-wide association study of celiac disease. Most of the associated loci contain genes with immune functions, and over half harbor risk variants that...
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Article
Open AccessPolymorphisms in the selenoprotein S gene: lack of association with autoimmune inflammatory diseases
Selenoprotein S (SelS) protects the functional integrity of the endoplasmic reticulum against the deleterious effects of metabolic stress. SEPS1/SelS polymorphisms have been involved in the increased release of p...
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Article
IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population
IL4, the gene coding the prototypic Th2 cytokine, has been frequently studied in the context of several inflammatory conditions, but conclusive results have not been obtained. This gene i...
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Article
Open AccessCD209 in inflammatory bowel disease: a case-control study in the Spanish population
The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, th...
