Assuntos
Aterosclerose/terapia , Colesterol/sangue , Dislipidemias/terapia , Adolescente , Adulto , Idoso , Aterosclerose/prevenção & controle , Biomarcadores/sangue , Doenças Cardiovasculares/etiologia , Criança , Ésteres do Colesterol/sangue , Dislipidemias/sangue , Dislipidemias/prevenção & controle , Ácidos Graxos/metabolismo , Feminino , Ácidos Fíbricos/metabolismo , Humanos , Hipercolesterolemia/sangue , Hipertrigliceridemia/sangue , Expectativa de Vida , Lipoproteínas/metabolismo , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Triglicerídeos/sangueAssuntos
Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aterosclerose/terapia , Colesterol/sangue , Dislipidemias/terapia , Aterosclerose/prevenção & controle , Biomarcadores/sangue , Doenças Cardiovasculares/etiologia , Ésteres do Colesterol/sangue , Dislipidemias/sangue , Dislipidemias/prevenção & controle , Ácidos Graxos/metabolismo , Ácidos Fíbricos/metabolismo , Hipercolesterolemia/sangue , Hipertrigliceridemia/sangue , Expectativa de Vida , Lipoproteínas/metabolismo , Fatores de Risco , Triglicerídeos/sangueRESUMO
Genetic polymorphisms at the apolipoprotein B (apo B) have been associated with elevated plasma concentrations of low-density lipoprotein (LDL) cholesterol, atherosclerosis and increased risk for coronary artery disease (CAD). In the present study, four apo B gene polymorphisms (MspI, XbaI, Ins/Del and 3'HVR) have been investigated to determine their frequencies and influence on the lipid profile of 177 hypercholesterolemic white Brazilian subjects (HG) and 100 control individuals (CG). The genotype distribution and allele frequency of MspI, XbaI and Ins/Del polymorphisms of apo B gene were similar between HG and CG groups. The frequency of the alleles smaller than 43 repeats (< or =43) of 3'HVR polymorphism in the HG group was higher when compared to controls (16.4 vs. 8.5%, P<0.05). Moreover, these alleles were associated with higher total cholesterol concentrations in serum of hypercholesterolemic individuals (P<0.05). In addition, an association between Ins/Del and 3'HVR polymorphism was observed. The alleles < or =43 and Del were more frequent in the HG when compared to the CG individuals (P<0.05). We concluded that 3'HVR polymorphism at the apo B gene may be an important genetic marker to evaluate atherosclerotic disease risk.
Assuntos
Apolipoproteínas B/genética , Hipercolesterolemia/genética , Lipídeos/sangue , Mutação , Polimorfismo de Fragmento de Restrição , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Brasil , Colesterol/sangue , Desoxirribonuclease HpaII , Desoxirribonucleases de Sítio Específico do Tipo II , Feminino , Deleção de Genes , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutagênese Insercional , Reação em Cadeia da Polimerase , Sequências Repetitivas de Ácido NucleicoRESUMO
Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three polymorphisms of the LDL receptor gene, HincII1773 (exon 12), AvaII (exon 13) and PvuII (intron 15), in 50 unrelated Brazilian individuals with a diagnosis of heterozygous FH and in 130 normolipidemic controls. Genomic DNA was extracted from blood leukocytes by a modified salting-out method. The polymorphisms were detected by PCR-RFLP. The FH subjects showed a higher frequency of A+A+ (AvaII), H+H+ (HincII1773) and P1P1 (PvuII) homozygous genotypes when compared to the control group (P<0.05). In addition, FH probands presented a high frequency of A+ (0.58), H+ (0.61) and P1 (0.78) alleles when compared to normolipidemic individuals (0.45, 0.45 and 0.64, respectively). The strong association observed between these alleles and FH suggests that AvaII, HincII1773 and PvuII polymorphisms could be useful to monitor the inheritance of FH in Brazilian families
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , DNA/análise , Hiperlipoproteinemia Tipo II/genética , Polimorfismo de Fragmento de Restrição , Receptores de LDL/genética , Alelos , Análise de Variância , Estudos de Casos e Controles , DNA/genética , Genótipo , Hiperlipoproteinemia Tipo II/diagnóstico , Reação em Cadeia da PolimeraseRESUMO
Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three polymorphisms of the LDL receptor gene, HincII(1773) (exon 12), AvaII (exon 13) and PvuII (intron 15), in 50 unrelated Brazilian individuals with a diagnosis of heterozygous FH and in 130 normolipidemic controls. Genomic DNA was extracted from blood leukocytes by a modified salting-out method. The polymorphisms were detected by PCR-RFLP. The FH subjects showed a higher frequency of A+A+ (AvaII), H+H+ (HincII(1773)) and P1P1 (PvuII) homozygous genotypes when compared to the control group (P<0.05). In addition, FH probands presented a high frequency of A+ (0.58), H+ (0.61) and P1 (0.78) alleles when compared to normolipidemic individuals (0.45, 0.45 and 0.64, respectively). The strong association observed between these alleles and FH suggests that AvaII, HincII(1773) and PvuII polymorphisms could be useful to monitor the inheritance of FH in Brazilian families.
Assuntos
DNA/análise , Hiperlipoproteinemia Tipo II/genética , Polimorfismo de Fragmento de Restrição , Receptores de LDL/genética , Alelos , Análise de Variância , Estudos de Casos e Controles , DNA/genética , Feminino , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da PolimeraseRESUMO
Familial hypercholesterolemia is characterized by high serum levels of total cholesterol and LDL-cholesterol. It may be homozygous or heterozygous. In homozygous patients, LDL-cholesterol levels range from 500 to 1000 mg/dL and coronary artery disease is precocious, usually manifesting itself between the 2nd and 3rd decades of life. The diagnosis is often made by the presence of xanthoma tuberosum and tendinous xanthomas that appear between the 1st and 2nd decades of life. The use of high doses of statins or even unusual procedures (apheresis, partial ileal bypass surgery, liver transplantation, gene therapy), or both, is necessary for increasing survival and improving quality of life, because a reduction in cholesterol levels is essential for stabilizing the coronary artery disease and reducing xanthomas. We report our experience with 3 patients with xanthomatous familial hypercholesterolemia and coronary artery disease, who underwent partial ileal bypass surgery. Their follow-up over the years (approximately 8 years) showed a mean 30% reduction in total cholesterol, with a significant reduction in the xanthomas and stabilization of the coronary artery disease.
Assuntos
Ceco/cirurgia , Doença das Coronárias/cirurgia , Hiperlipoproteinemia Tipo II/cirurgia , Íleo/cirurgia , Xantomatose/cirurgia , Adulto , Anastomose Cirúrgica , Anticolesterolemiantes/uso terapêutico , Feminino , Seguimentos , Humanos , Hiperlipoproteinemia Tipo II/terapia , Masculino , Resultado do Tratamento , Xantomatose/terapiaRESUMO
The possible association of genetic markers at the apolipoprotein E (HhaI polymorphism), apolipoprotein B (XbaI, EcoRI and Ins/Del polymorphisms), and low-density lipoprotein receptor (LDLR) (AvaII, HincII and PvuII polymorphisms) with coronary artery disease (CAD) was evaluated in 50 Brazilian women with CAD diagnosed by angiography and in 100 healthy women (controls). The frequency of E3/E4 genotype for HhaI polymorphism at the Apo E gene was significantly higher in CAD patients than in controls (40% vs. 14%, respectively, P<0.001). Similarly, the X-X- genotype for XbaI polymorphism was more frequent in CAD individuals than controls (42% vs. 12%, P<0.0001). The A+A+ and P1P1 genotypes for AvaII and PvuII polymorphisms at the LDLR locus were also higher in CAD subjects than controls (44% vs. 16%, P<0.001 and 64% vs. 39%, P<0.05, respectively). The estimated relative risks for CAD in women carrying the E3/E4, X-X-, A+A+ and P1P1 genotypes were 4.1 [95% confidence interval (CI), 3.0-5.6], 5.3 (95% CI, 3.8-7.5), 4.1 (95% CI, 3.0-5.5), and 2.8 (95% CI, 2.2-3.6), respectively. This study demonstrates that Apo E, Apo B and LDLR gene polymorphisms are associated with CAD in Brazilian Caucasian women.
Assuntos
Arteriosclerose/genética , Doença das Coronárias/diagnóstico , DNA/genética , Polimorfismo Genético , Arteriosclerose/complicações , Arteriosclerose/enzimologia , Brasil , Angiografia Coronária , Doença das Coronárias/complicações , Feminino , Genótipo , Humanos , Pessoa de Meia-IdadeRESUMO
Coronary artery disease (CAD) has a high prevalence in the Brazilian population. Nevertheless, studies of genetic risk factors for CAD in this country have not been sufficiently conducted. We used the Pvu II polymorphism (intron 15) at the low-density lipoprotein receptor (LDLR) gene to study the effect of variation at this locus in determining plasma lipid concentrations in 128 white subjects presenting a lipid profile suggesting high risk for CAD (HRG) and 100 white normolipidemic individuals (controls, CG). The Pvu II polymorphism was detected by PCR-RFLP. The P1P1 genotype for Pvu II polymorphism (homozygous for absence of restriction site) was greater in HRG individuals than in CG subjects (57% vs. 38%, P<0.05). Moreover, the P1P1 genotype was strongly associated with high concentrations of total cholesterol (P=0.0001), triglycerides (P=0. 0295), LDL-C (P=0.0001), and VLDL-C concentrations (P=0.0280) and lower HDL-C concentrations (P=0.0051) in HRG subjects. Similarly, the CG individuals with P1P1 genotype presented high concentrations of total cholesterol and LDL-C compared to other genotypes (P=0. 0001). This study demonstrates the influence of Pvu II polymorphism of the LDLR on serum lipid concentrations of individuals with low and high risk for CAD from Brazil.
Assuntos
Doença das Coronárias/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Íntrons/genética , Lipídeos/sangue , Polimorfismo Genético/genética , Receptores de LDL/genética , Adulto , Idoso , Alelos , Brasil , Doença das Coronárias/sangue , DNA/genética , DNA/isolamento & purificação , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Risco , Caracteres SexuaisRESUMO
Coronary heart disease (CHD) has presented high prevalence in the Brazilian population. Nevertheless, studies of genetic risk factors for CHD in our country are insufficiently carried out. We have investigated the effects of Ava II (exon 13) and Hinc II (exon 12) polymorphisms at the low-density lipoprotein receptor (LDLR) gene on circulating lipids of 170 white unrelated individuals presenting a lipid profile with high risk for CHD (HRG) and 130 controls (CG) from São Paulo City, Brazil. Ava II and Hinc II polymorphic regions at the LDLR gene were amplified by PCR and analyzed by enzymatic isotyping. The frequency of the genotypes A+A+ (Ava II) and H+H+ (Hinc II) was greater in HRG group compared to that of the controls (32 vs. 16% and 32 vs. 18%, respectively). Moreover, in the HRG group, A+A+ and H+H+ genotypes were associated with high concentrations of total cholesterol and LDL-C in serum (P = 0.0001). Our results indicate that Ava II and Hinc II polymorphisms at the LDLR locus contribute to the variability of total cholesterol and LDL-C levels in HRG individuals. These data suggest that the LDLR polymorphism remains a useful genetic marker for predicting CHD risk.
Assuntos
Alelos , Doença das Coronárias/genética , Éxons/genética , Predisposição Genética para Doença , Lipídeos/sangue , Polimorfismo Genético , Receptores de LDL/genética , Adulto , Idoso , Brasil , Feminino , Marcadores Genéticos , Genética Populacional , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
PURPOSE: The aim of this study was to evaluate the effectiveness of nicotine patches as a strategy to help patients quit smoking in the cardiovascular clinic. METHODS: The population studied was composed of 100 patients (50 women and 50 men). The strategy included medical consultation, Fangerstron escore application and prescription of nicotine patches. Nicotine patches were continuously used for 8 to 12 weeks, with progressive concentration reduction releasing 21, 14, and 7 mg/day. RESULTS: The abstinence rate one year later was 41% confirmed by carbon monoxide exhaled air concentration. CONCLUSION: Nicotine patches are safe, and well tolerated and, for these reasons, should be more frequently prescribed by cardiologists to help patients quit smoking.