6 Result(s)
within
Elena Urcelay
Cytogenetics
-
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...
-
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 ...
-
Article
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...
-
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...
-
Article
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...
-
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...
