15 Result(s)
within
Elena Urcelay
Human Genetics
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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
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
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
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...
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Article
Influence of the inducible nitric oxide synthase gene (NOS2A) on inflammatory bowel disease susceptibility
The great amount of nitric oxide (NO) produced by the inducible isoform of NO synthase (iNOS) exerts deleterious effects, and iNOS expression is raised in the colonic mucosa of inflammatory bowel disease (IBD)...
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Article
Open AccessSusceptibility to type 1 diabetes conferred by the PTPN22C1858T polymorphism in the Spanish population
The protein tyrosine phosphatase N22 gene (PTPN22) encodes a lymphoid-specific phosphatase (LYP) which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with ...
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Open AccessInterleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Genetic and environmental factors are suspected to be involved in the development of the disease. Interleukin-10 (IL-10) is a cy...
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Article
Open AccessEvidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
Type 1 diabetes (T1D) is a chronic, autoimmune and multifactorial disease characterized by abnormal metabolism of carbohydrate and fat. Diminished carnitine plasma levels have been previously reported in T1D p...
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Open AccessInterleukin-10 haplotypes in Celiac Disease in the Spanish population
Celiac disease (CD) is a chronic disorder characterized by a pathological inflammatory response after exposure to gluten in genetically susceptible individuals. The HLA complex accounts for less than half of t...
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Article
Open AccessA functional PTPN22polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
The 1858C/T SNP of the PTPN22 gene has been associated with many autoimmune diseases, suggesting the existence of an inflammatory process common to all of them. We studied the association of that polymorphism wit...
