Assuntos
Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/genética , Predisposição Genética para Doença , Isquemia Miocárdica/genética , Síndrome Coronariana Aguda/mortalidade , Apolipoproteínas B/genética , Citocromo P-450 CYP3A/genética , Interpretação Estatística de Dados , Feminino , Genótipo , Humanos , Lipase Lipoproteica/genética , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/mortalidade , Polimorfismo Genético , Fatores de TempoRESUMO
The aim of this study was the search of association of polymorphous markers Pro72Arg and C(-594)CC of TP53 gene with diabetic polyneuropathy (DPN) in patients with type 1 diabetes mellitus with or without clinical signs of DPN. We have found that polymorphous marker Pro72Arg of TP53 gene was associated with DPN in Russian patients with type 1 diabetes mellitus living in Moscow. The carriers of Arg allele and Arg/Arg genotype had higher risk of DPN development (OR = 1.96; CI = 1.32-2.90; and OR = 2.14; CI = 1.23-3.73; relatively). On the contrary, the carriage of Pro allele was associated with the lower risk of DPN development (OR = 0.51; CI = 0.34-0.76). We have not found any association of polymorphous marker C(-594)CC of TP53 gene with DPN in Russian patients with type 1 diabetes mellitus living in Moscow.
Assuntos
Diabetes Mellitus Tipo 1/genética , Nefropatias Diabéticas/genética , Genes p53 , Polimorfismo Genético , Adulto , Diabetes Mellitus Tipo 1/complicações , Nefropatias Diabéticas/etiologia , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Masculino , MoscouRESUMO
In groups of type 1 diabetes mellitus patients with and without clinical signs of diabetic nephropathy (n = 62 and n = 68, respectively), a search was made for associations between diabetic nephropathy and the polymorphic marker epsilon2/epsilon3/epsilon4 of apolipoprotein E gene (APOE), I/D marker of apolipoprotein B gene (APOB), and Ser447Ter marker of lipoprotein lipase-encoding gene (LPL). The risk of diabetic nephropathy was higher in the carriers of allele epsilon3 and genotype epsilon3/epsilon3 of the polymorphic marker epsilon2/epsilon3/epsilon4 of APOE gene as well as in the carriers of allele 1 and APOB genotype/gene (OR = 2.08 and 2.16; 1.91 and 2.11, respectively). Conversely, the carriers of allele D showed a reduced risk of this complication (OR = 0.52). No significant differences in distribution of alleles and genotypes of the polymorphic marker Ser447Ter of LPL gene were found between the groups. Our results indicate that the genes encoding two major components of lipid metabolism are involved in the development of diabetic nephropathy in patients with type 1 diabetes mellitus.
Assuntos
Apolipoproteínas B/genética , Apolipoproteínas E/genética , Diabetes Mellitus Tipo 1/complicações , Nefropatias Diabéticas/genética , Predisposição Genética para Doença/genética , Lipase Lipoproteica/genética , Polimorfismo Genético , Adulto , Feminino , Frequência do Gene , Marcadores Genéticos/genética , Humanos , Metabolismo dos Lipídeos , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
Alleles and genotypes of polymorphic markers of paraoxonase 1 and paraoxonase 2 genes (PON1 and PON2) encoding enzymes of the body antioxidative defense were compared in type 1 diabetes mellitus patients with or without diabetic nephropathy. The patients with nonoverlapping ("polar") phenotypes constituted different groups. The first group contained patients with diabetic nephropathy (DN+, n = 62), clinical proteinuria (albuminuria above 300 mg per day), and at least 15-year disease duration. In control group, the patients had no diabetic nephropathy (DN-, n = 68), their albuminuria was below 200 mg per day, and disease duration was at least 20 years. Comparative analysis with exact Fisher's test revealed no significant differences in frequencies of alleles and genotypes of the PON1 gene polymorphic marker Gln192Arg and of PON2 gene polymorphic markers Ala148Gly and Cys311Ser. Our results suggest that the polymorphic markers studied are not associated with diabetic nephropathy among Russian patients in Moscow.
Assuntos
Arildialquilfosfatase/genética , Diabetes Mellitus Tipo 1/genética , Nefropatias Diabéticas/genética , Polimorfismo Genético , Biomarcadores , Estudos de Casos e Controles , Ligação Genética , Humanos , Moscou , Valor Preditivo dos TestesRESUMO
The aim of this study was the search of association with diabetic polyneuropathy of the polymorphic markers epsilon2/epsilon3/epsilon4 of apolipoprotein E (APOE) and I/D of apolipoprotein B (APOB) genes in groups of type 1 diabetes patients with diabetic polyneuropathy (n = 86) and without its clinical signs (n = 94). We have not found significant association with diabetic polyneuropathy (DPN) of epsilon2/epsilon3/epsilon4 marker of APOE gene. However the comparison of allele and genotype frequencies of I/D marker of APOB gene showed that the carriers of I allele and II genotype had higher risk (OR = 1.66 and 2.01, relatively; p < 0.027), whereas the carriers of D allele had lower risk of DPN (OR = 0.60; p < 0.018). Our findings show that APOB gene, encoding one of the main components of lipid metabolism system, is involved into the diabetic polyneuropathy development in type 1 diabetes mellitus.
