RESUMO
To study the association with diabetes mellitus type 2 we performed anal- ysis of the distribution of frequencies of alleles and genotypes of polymorphic markers of FTO, KCNJ11, SIC30A8 and CDKN2B genes. The study included groups of T2DM patients and unrelated controls of Russian origin. Analysis of the distribution of frequencies of alleles and genotypes of the polymorphic markers of KCNJ11, SLC30A8 and CDKN2B genes showed the presence of association with T2DM in Russian population, while for the FTO gene was not found statistically significant associations with type 2 diabetes. We can conclude that in Russian population main role in the development of type 2 diabetes play genes, affecting the level of syn- thesis and secretion of the insulin in beta-cells of the pancreas.
Assuntos
Proteínas de Transporte de Cátions/genética , Inibidor de Quinase Dependente de Ciclina p15/genética , Diabetes Mellitus Tipo 2/genética , Canais de Potássio Corretores do Fluxo de Internalização/genética , Proteínas/genética , Alelos , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Diabetes Mellitus Tipo 2/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Insulina/genética , Insulina/metabolismo , Secreção de Insulina , Polimorfismo de Nucleotídeo Único , Federação Russa , Transportador 8 de ZincoRESUMO
To study the association with diabetes mellitus type 1 we performed analysis of the distribution of frequencies of alleles and genotypes of polymorphic marker rs2292239 of ERBB3 gene, encoding epidermal growth factor receptor type 3 and polymorphic marker rs3184504 of SH2B3 gene, encoding adaptor protein LNK. The study included groups of T1DM patients and unrelated controls of Russian origin. Genotyping was performed using methods of RFLP and real-time amplification. For the polymorphic marker rs2292239 of ERBB3 gene was not found statistically significant associations with type 1 diabetes, while analysis of the distribution of frequencies of alleles and genotypes of the polymorphic marker rs3184504 of SH2B3 gene showed the presence of association with T1DM in Russian population.
Assuntos
Alelos , Diabetes Mellitus Tipo 1/genética , Frequência do Gene/genética , Polimorfismo de Fragmento de Restrição , Proteínas/genética , Receptor ErbB-3/genética , Proteínas Adaptadoras de Transdução de Sinal , Diabetes Mellitus Tipo 1/etnologia , Feminino , Marcadores Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Federação Russa/etnologiaRESUMO
To study the association with diabetes mellitus type 1 (T1DM) we performed TDT analysis and analysis of the distribution of frequencies of alleles and genotypes of polymorphic marker C1858T of the PTPN22 gene, encoding tyrosine phosphatase of non-receptor type (LYP). Groups of concordant (27 families) and discordant (62 families) sibpairs and groups of T1DM patients and unrelated controls of Russian origin were recruited in Endocrinology Research Center, Moscow and Center of Diabetes, Samara. For a given polymorphic marker was not found statistically significant associations with type 1 diabetes in the transmission disequilibrium test, while analysis of the distribution of frequencies of alleles and genotypes showed the association with T1DM. Thus, the polymorphic marker C1858T of the PTPN22 gene is associated with T1DM in Russian patients.
