title: DC-SIGN polymorphisms are associated to type 1 diabetes mellitus.
abstract: Type I diabetes mellitus (T1DM) is an autoimmune disorder featured by raised glucoses levels. It has been hypothesised that raised glucose levels in T1DM might be recognised as PAMPs, leading to immune response by overloading the cell receptors for pathogens recognition. DC-SIGN is a transmembrane protein, present in dendritic cells (DC) and macrophages: it has an important role in inflammatory response and T cells activation. Notably, DC-SIGN activation and triggering of the immune response depend on the type of ligand, which may lead to a pro or anti-inflammatory pathway. In our association study, we analysed the SNPs rs4804803 (-336 A>G) and rs735239 (-871 A>G), both at DC-SIGN promoter region, in 210 T1DM patients and 157 healthy controls, also looking for a correlation with the age of onset of the disease. We found that the allele G and genotypes G/G and A/G of SNP-871 (rs735239), as well as the alleles G-G (rs735239-rs4804803) and genotypes combined AA-GG (rs735239-rs4804803) were associated with protection of T1DM development. We did not find association between these variations with the age of onset of the disease and the presence of other autoimmune disorders. Our results suggest that SNPs in DC-SIGN promoter region can be associated to protection for T1DM in the Northeast Brazilian population.
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Ronaldo Celerino
authors.initials: RC
authors.lastname: da Silva
authors.affiliation: Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Nathália de Alencar
authors.initials: Nde A
authors.lastname: Cunha Tavares
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Ronald
authors.initials: R
authors.lastname: Moura
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Antônio
authors.initials: A
authors.lastname: Coelho
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Rafael Lima
authors.initials: RL
authors.lastname: Guimarães
authors.affiliation: Pediatric Endocrinology Unit of Clinical Hospital, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Araújo
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.affiliation: Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Pathology Department, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Lucas André Cavalcanti
authors.initials: LA
authors.lastname: Brandão
authors.affiliation: Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil. Electronic address: j.azvedo@gmail.com.
authors.forename: Jaqueline de Azevêdo
authors.initials: Jde A
authors.lastname: Silva
mesh_terms: D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D037181:Lectins, C-Type / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011956:Receptors, Cell Surface / Q000235:genetics*; D000099215:DC-Specific ICAM-3 Grabbing Nonintegrin
chemical_list: D015815:Cell Adhesion Molecules; D037181:Lectins, C-Type; D011956:Receptors, Cell Surface; D000099215:DC-Specific ICAM-3 Grabbing Nonintegrin
keywords: DC-SIGN; SNPs; T1DM