RESUMEN
We studied the incidence of genotypes of polymorphic alleles (-75)G>A and (+83)C>T of apolipoprotein A1 gene in healthy Russian adolescents, residents of East Siberia. Genotyping was carried out by PCR with subsequent restriction fragment length polymorphism analysis. The incidence of allele (-75)A was 22.5%, of allele (+83)T - 7.3%. Association of allele (-75) A with high blood cholesterol level was revealed.
Asunto(s)
Apolipoproteína A-I/genética , Lípidos/sangre , Polimorfismo Genético/genética , Adolescente , Alelos , Niño , Colesterol/sangre , Femenino , Genotipo , Humanos , Masculino , SiberiaRESUMEN
The distribution of genotypes and alleles of Q192R polymorphism of the paraoxonase1 (rs622) gene was studied in Russian and Buryat populations living in Eastern Siberia. Correlations between genotypes and some parameters of the lipid profile and lipid peroxidation indicators were revealed. In the group of Russians, the frequency of genotypes was QQ-0.354; QR-0.569 and RR-0.077, alleles Q-0.638, and R-0.362. In the group of Buryats, the genotype frequencies were QQ-0.204; QR-0.629 and RR-0.167, alleles Q-0.518, and R-0.482. No differences in allele and genotype frequencies were established between the groups of Russians and Buryats. In the group of Russians, the VLD L cholesterol content (H = 6.461; p = 0.0395) and diene conjugates (H = 8.107; p = 0.0174) was higher in carriers of genotype QQ than in carriers of genotype RR. In the group of Buryats, the HDL cholesterol content (H = 1.548; p = 0.0461) was higher in carriers of genotype QQ, wherein the concentration of malondialdehyde (H = 13.854, p = 0.0010) was lower in comparison with carriers of genotype RR.
Asunto(s)
Arildialquilfosfatasa/genética , Estudios de Asociación Genética , Peroxidación de Lípido/genética , Adolescente , Alelos , Antioxidantes/metabolismo , HDL-Colesterol/genética , HDL-Colesterol/metabolismo , VLDL-Colesterol/genética , VLDL-Colesterol/metabolismo , Etnicidad/genética , Femenino , Genotipo , Heterocigoto , Humanos , Masculino , Malondialdehído/metabolismo , Polimorfismo de Nucleótido Simple/genética , SiberiaRESUMEN
The study of LPO processes in adolescents of different races with essential hypertension revealed that Mongoloids exhibit oxidative stress by altering the level of the formation of diene conjugates, the primary LPO products. Caucasians increased the levels of both primary and end products of LPO, diene conjugates, and malondialdehyde. The revealed differences can be genetically determined because ethnic differences in the frequency of SOD2 gene Ala16Val polymorphism and its contribution to the biochemical phenotype were reported. The risk factors are Ala allele associated with increased MDA level for adolescent Caucasians and Val allele linked with decreased level of total antioxidant activity for adolescent Mongoloids.
Asunto(s)
Pueblo Asiatico/genética , Hipertensión/enzimología , Peroxidación de Lípido/fisiología , Mitocondrias/enzimología , Estrés Oxidativo/fisiología , Superóxido Dismutasa/metabolismo , Población Blanca/genética , Adolescente , Frecuencia de los Genes , Genotipo , Humanos , Hipertensión/metabolismo , Malondialdehído/metabolismo , Polimorfismo Genético/genética , Estadísticas no Paramétricas , Superóxido Dismutasa/genéticaRESUMEN
Oxidative stress plays an important role in the pathogenesis the most of diseases. Important components of protecting cells from oxidative stress are antioxidant enzymes. Antioxidant enzymes are characterized by population differences in enzyme activity. The purpose of the study to summarize and discuss information on genetic polymorphisms of antioxidant enzymes in the most pathology. The development plays of the role of oxidative stress.