RESUMO
Atopic dermatitis (AD) is a prevalent chronic inflammatory skin disease developing as a result of the interaction between genetic predisposition and environmental factors. Considerable role in allergic diseases development is played by polymorphisms of genes of pattern-recognition receptors (PRR) which are capable of recognizing conservative standard molecular structures (patterns) unique for large pathogen groups. In this study polymorphic variants of PRR genes--Toll-like receptors (TLR1, TLR2, TLR4, TLR5, TLR6, TLR9, TLR10), NOD-like receptors (NOD1, NOD2), lipopolysaccharide receptor CD14 gene, and C11orf30 and LRRC32 genes, located in 11q13.5 region, have been investigated in AD patients and control subjects from the Republic of Bashkortostan. An association of TLR1 (rs5743571 and rs5743604), TLR6 (rs5743794) and TLR10 (rs11466617) with AD was found. Our results confirm an important role of the innate immune system in the pathogenesis of AD and the significance of polymorphisms within the Toll-like receptor 2 subfamily genes in AD development.
Assuntos
Dermatite Atópica/genética , Predisposição Genética para Doença , Polimorfismo Genético , Receptores Toll-Like/genética , Adolescente , Adulto , Alelos , Bashkiria , Estudos de Casos e Controles , Criança , Pré-Escolar , Cromossomos Humanos Par 11 , Dermatite Atópica/imunologia , Dermatite Atópica/patologia , Feminino , Expressão Gênica , Frequência do Gene , Interação Gene-Ambiente , Loci Gênicos , Humanos , Receptores de Lipopolissacarídeos/genética , Receptores de Lipopolissacarídeos/imunologia , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana/imunologia , Pessoa de Meia-Idade , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/imunologia , Proteína Adaptadora de Sinalização NOD1/genética , Proteína Adaptadora de Sinalização NOD1/imunologia , Proteína Adaptadora de Sinalização NOD2/genética , Proteína Adaptadora de Sinalização NOD2/imunologia , Proteínas Nucleares/genética , Proteínas Nucleares/imunologia , Proteínas Repressoras/genética , Proteínas Repressoras/imunologia , Receptores Toll-Like/imunologiaRESUMO
BACKGROUND: Cytotoxic T lymphocyte antigen-4 (CTLA-4) molecule is an important regulator of T cell activation involved in the down-regulation of immune response. Polymorphisms within the CTLA-4 gene have been suggested to confer susceptibility to autoimmune endocrine disorders. METHODS: In order to evaluate the impact of allelic variants of the CTLA-4 gene in latent autoimmune diabetes in adults (LADA), the CT60 A/G SNP and the CTBC217_1 C/T SNP were studied in a population of Estonian origin, including 61 LADA patients and 230 controls. RESULTS: It was found that the CT60 GG genotype (p=0.004) and the CTBC217_1 TT genotype (p=0.007) were significant associated with LADA. CONCLUSIONS: Our investigation revealed that not only type 1 diabetes but also LADA is associated with CTLA-4 gene polymorphisms. The role of CTLA-4 gene in the pathogenesis of LADA is open and needs further investigations.
Assuntos
Antígenos CD/genética , Diabetes Mellitus Tipo 1/genética , Polimorfismo Genético , Antígeno CTLA-4 , Estudos de Casos e Controles , Diabetes Mellitus Tipo 1/patologia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is considered an important regulator of T-cell activation. Polymorphisms within the PTPN22 gene have been suggested to confer susceptibility to autoimmune endocrine disorders. To evaluate the impact of a functional variation in the PTPN22 gene in type 1 (T1D) and type 2 diabetes (T2D), the PTPN22 C1858T single nucleotide polymorphism (SNP) was studied in the population of Estonian origin, including 170 T1D patients, 244 T2D patients and 230 controls. Using two methods for PTPN22 C1858T detection in parallel, we found that not only T1D but also T2D is associated with the PTPN22 1858T allele. The role of PTPN22 gene in the pathogenesis of T2D is yet unclear and needs further investigation.