RESUMO
Predictive models of comorbidity, dyslipidemic disorders and essential arterial hypertension, in Russian adolescents aged 12 to 18 years (mean 15.48±1.53) were formulated with consideration for biochemical (lipid profiles) and genetic parameters (carrier state of gene polymorphic variants of apolipoprotein genes ApoA1 (-75G/A and +83C/T), ApoB (Ins/Del), ApoC3 (S1/S2), and ApoE (ε2/ε3/ε4). Significant prognostic risk factors for the mentioned comorbid pathologies were lipid metabolism parameters HDL-Ch, LDL-Ch, VLDL-Ch and carrier state of the +83T allele of the ApoA1 gene and Del allele of the ApoB gene. The obtained mathematical model is characterized by high predictive accuracy: the percentage of correct classification or the rate of correct assignment of each participant to the proper group was 96.33%.
Assuntos
Apolipoproteína A-I/genética , Apolipoproteína B-100/genética , Dislipidemias/diagnóstico , Hipertensão Essencial/diagnóstico , Predisposição Genética para Doença , Modelos Estatísticos , Polimorfismo Genético , Adolescente , Alelos , Apolipoproteína A-I/imunologia , Apolipoproteína B-100/imunologia , Apolipoproteína C-III/genética , Apolipoproteína C-III/imunologia , Apolipoproteínas E/genética , Apolipoproteínas E/imunologia , Portador Sadio , Criança , HDL-Colesterol/sangue , LDL-Colesterol/sangue , VLDL-Colesterol/sangue , Análise Discriminante , Dislipidemias/sangue , Dislipidemias/genética , Dislipidemias/imunologia , Hipertensão Essencial/sangue , Hipertensão Essencial/genética , Hipertensão Essencial/imunologia , Feminino , Expressão Gênica , Frequência do Gene , Humanos , Masculino , Prognóstico , Fatores de Risco , Federação Russa , Triglicerídeos/sangueRESUMO
We carried out a comparative analysis of circadian rhythms of melatonin secretion in Caucasian menopausal women with and without insomnia depending on the 3111T/C polymorphism of the Clock gene. Melatonin levels was measured in the saliva 4 times a day (06.00-07.00, 12.00-13.00, 18.00-19.00, and 23.00-00.00 h). Carriers of the TT genotype with insomnia demonstrated significantly higher level of melatonin in the early morning hours compared to the carriers of the minor allele C (12.60±7.58 and 8.98±8.62 pg/ml, respectively, p=0.023). In the control group, no statistically significant differences were revealed. The carriers of the TT genotype with sleep disorders have higher morning melatonin level compared to control group women (12.60±7.58 and 5.48±4.74 pg/ml, respectively, p=0.005) and low nocturnal melatonin level (6.42±4.97 and 12.52±10.40 pg/ml, respectively, p=0.039).
Assuntos
Proteínas CLOCK/genética , Ritmo Circadiano/genética , Melatonina/metabolismo , Menopausa/genética , Polimorfismo de Nucleotídeo Único , Distúrbios do Início e da Manutenção do Sono/genética , Alelos , Proteínas CLOCK/metabolismo , Estudos de Casos e Controles , Feminino , Regulação da Expressão Gênica , Frequência do Gene , Genótipo , Humanos , Pessoa de Meia-Idade , Federação Russa , Saliva/química , Saliva/metabolismo , Distúrbios do Início e da Manutenção do Sono/metabolismo , Distúrbios do Início e da Manutenção do Sono/fisiopatologiaRESUMO
Comparative analysis of the frequency distributions of genotypes and alleles of 3111T/C Clock gene polymorphism was carried out in climacteric Caucasian women with and without insomnia. Genotype TT is more incident in women with insomnia (55.5% vs. 42.6% in the control). Allele T predominated in the control and study group and its frequency is higher in women with insomnia. The OR for the risk of insomnia realization is 1.78 (95%CI 1.16-2.75). No association between genotypes and complaints of patients with insomnia is detected.
Assuntos
Proteínas CLOCK/genética , Polimorfismo de Nucleotídeo Único/genética , Distúrbios do Início e da Manutenção do Sono/genética , Adulto , Alelos , Ritmo Circadiano/genética , Ritmo Circadiano/fisiologia , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , População Branca/genéticaRESUMO
Using MDR bioinformatic analysis we studied gene-gene interactions between apolipoprotein genes in adolescents with essential arterial hypertension and dyslipidemia against the background of essential arterial hypertension. Optimal models of gene-gene interactions were formed. The six-locus model was the most significant: (ApoA1(+83T), ApoA1(-75A), ApoB(Del), ApoC3(S2), ApoE(ε2), ApoE(ε4). The maximum synergism in both adolescent groups were shown for allele variants ApoA1(-75A), ApoB(Del), and ApoE(ε4). The maximum contribution to gene-gene interactions entropy was made by allelic polymorphisms ApoA1(-75A) and ApoE(ε4) and (in the comorbid pathology group) for ApoE(ε4)+ApoB(Del).
Assuntos
Dislipidemias/genética , Dislipidemias/metabolismo , Hipertensão/genética , Hipertensão/metabolismo , Polimorfismo Genético/genética , Adolescente , Alelos , Apolipoproteína A-I/genética , Apolipoproteínas B/genética , Apolipoproteínas E/genética , Criança , Feminino , Genótipo , Humanos , Masculino , Ligação Proteica/genética , Ligação Proteica/fisiologiaRESUMO
We studied the frequency of alleles and genotypes of CAT gene -262C>T polymorphism (rs1001179) in Russian and Buryat adolescents. The frequency of -262T allele was 28.31% in Russians and 16.84% in Buryats (p<0.01). In both ethnic groups, a correlation between the study polymorphism and concentration of diene conjugates was observed. Carriers of TT-genotype of CAT gene-262C>T polymorphism had lower level of diene conjugates than carriers of CT- and CC-genotypes.
Assuntos
Catalase/genética , Adolescente , Feminino , Genótipo , Humanos , Masculino , Estresse Oxidativo/genética , Polimorfismo Genético/genética , População BrancaRESUMO
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.