RESUMO
Apoliprotein (Apo) E gene polymorphisms have been associated with high plasma lipids levels and cardiovascular disease. The aim of this study was to determine allelic and genotypic frequencies and to evaluate the associations of polymorphisms with hypercholesterolemic phenotypes in a patient population in Maracaibo, Zulia State. Two hundred and twenty-one patients with ages between 9 and 78 years old attending the Endocrine-Metabolic Center at the University of Zulia, Zulia, Venezuela, were recruited. The lipid profile was determined by enzymatic methods. ApoE polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism. One hundred and thirty-three dyslipidemic and 88 patients with normal lipids profile were evaluated. The higher proportion of patients corresponded to hypercholesterolemia isolated (46.61%), followed by hypercholesterolemia combined with hypertriglyceridemia and low levels of high-density lipoprotein (21.8%). ApoE epsilon3 allele was the most frequent in the evaluated population (0.80), both in the control group (0.78) and in the dyslipidemic group (0.82), followed by the epsilon4 allele (0.12) for both groups and the epsilon2 allele with values of 0.10 and 0.06, for control and dyslipidemic group, respectively. The epsilon3epsilon3 and epsilon3epsilon4 genotypes were the most frequent in the population, with values of 62.89% and 22.17%, respectively. The genotype frequencies were 57.95% and 66.17% for epsilon3epsilon3; 23.86% and 21.05% for epsilon3epsilon4 in nondyslipidémicos and dyslipidemic patient groups, respectively. The epsilon4epsilon4 genotype was observed only in hypercholesterolemic patients. The homozygote epsilon2epsilon2 and heterozygote epsilon2epsilon3 genotypes were more frequent at the normal lipids profile group, consistent with diverse reports that indicate the association of the epsilon4 allele with elevated cholesterol levels and low cholesterol levels when the epsilon2 allele is present. ApoE polymorphism seems to be associated with variance in serum lipids levels in the population evaluated.
Assuntos
Apolipoproteína E2/genética , Apolipoproteína E3/genética , Apolipoproteína E4/genética , Hipercolesterolemia/genética , Adolescente , Adulto , Idoso , Alelos , Criança , Estudos Transversais , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Venezuela/epidemiologia , Adulto JovemRESUMO
Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by increase in low-density lipoprotein (LDL) cholesterol levels and premature coronary artery disease. In Venezuela, the molecular basis of FH has not been characterized, thus, the aim of this study was to investigate mutations in the exon 4 of the LDLR (LDL-receptor) gene in 225 Venezuelan mixed race individuals (65 hypercholesterolemic and 160 normolipidemic). The exon 4 of the LDLR gene was screened by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis and DNA sequencing. Additionally, ApoB-100 gene mutations were investigated. Different LDLR gene mutations were identified in 5 hypercholesterolemic patients (7.7%), 3 missense mutations (4.6%), and 2 frameshift mutations (3%). All mutations were heterozygous. The missense mutations included the amino acid substitution p.E180K, p.R194S, and p.C152G. The frameshift mutations are caused by insertions resulting in the creation of stop codons: p.D157fsX158 and p.S173fsX174, which could code for truncated LDLR of 157 and 173 amino acids, respectively. The apoB gene mutations were not detected in any of our patients and to our knowledge 4 mutations identified in this study have not been reported previously, this study being the first comprehensive mutation analysis of the LDLR causing FH in our region. The early identification of individuals at risk allows changes in lifestyle, including dietary intervention, followed by drug treatment.
Assuntos
Apolipoproteína B-100/genética , Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Adolescente , Adulto , Substituição de Aminoácidos , Criança , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA , Venezuela , Adulto JovemRESUMO
Objetivo Evaluar la prevalencia de infecciones por Chlamydia trachomatis en un grupo de mujeres sintomáticas y asintomáticas que asistieron a control en servicios de ginecología en centros de salud de Maracaibo, estado Zulia. Métodos Se incorporaron al estudio 168 pacientes que asistieron a dos centros de salud de Maracaibo. Se llevó a cabo evaluación ginecológica basada en examen pélvico, de áreas profundas de la vagina y cuello uterino. Las pacientes fueron clasificadas en grupos etarios y de acuerdo a la presencia de manifestaciones clínicas. Para investigar C. trachomatis, se aplicaron dos ensayos de amplificación de ADN del plásmido endógeno y del gen OMP1, a partir de hisopados endocervicales. Resultados Se evaluaron 168 pacientes, 81 (48,2 por ciento) sintomáticas y 87 (51,8 por ciento) asintomáticas. Se encontró una prevalencia de 7,7 por ciento en la población total evaluada. La prevalencia fue de 9,9 por ciento y 5,8 por ciento para las pacientes sintomáticas y asintomáticas, respectivamente (p>0,05). El grupo de pacientes de 18-28 años exhibió la más alta prevalencia (13,7 por ciento) (p=0,0322). Las manifestaciones clínicas predominantes fueron secreción mucopurulenta (35,8 por ciento) y cervicitis (21 por ciento). C. trachomatis fue detectada en 7,1 por ciento pacientes con secreción mucopurulenta y 23,5 por ciento casos de cervicitis, pero no se demostró asociación significativa entre infección y manifestaciones clínicas individuales (p>0,05). Conclusión Se encontró una mediana prevalencia de infecciones por C. trachomatis en la población evaluada, exhibiendo mayor frecuencia en mujeres jóvenes. Este microorganismo debería ser investigado en mujeres jóvenes sexualmente activas, independientemente de su condición sintomática o asintomática.
Objective Evaluating Chlamydia trachomatis infection prevalence in a group of symptomatic and asymptomatic females attending gynaecology services in health centres in Maracaibo in the state of Zulia in Venezuela. Methodology 168 patients attending two health centres in Maracaibo were included in this study. Gynaecological evaluation was based on examining the pelvis, deep areas of the vagina and the cervix. Patients were classified into groups according to age and the presence of clinical manifestations. Two DNA amplification assays of endogenous plasmid and the omp1 gene taken from endocervical swabs were used for investigating C. trachomati. Results 168 patients were evaluated; 81 (48,2 percent) were symptomatic and 87 (51,8 percent) asymptomatic, A 7,7 percent prevalence (p>0.05) was found in the total population (9,9 percent prevalence for symptomatic patients and 5,8 percent for asymptomatic ones). The 18- 28 year old patient group exhibited the highest prevalence (13,7 percent) (p=0.0322). The predominant clinical manifestations were mucopurulent secretion (35,8 percent) and cervicitis (21 percent). C. trachomatis was detected in 7,1 percent of patients having mucopurulent secretion and 23,5 percent of cervicitis cases; however, no significant association between infection and individual clinical manifestations was shown (p>0.05). Conclusion Medium C. trachomatis infection prevalence was found In the population being assessed here, the highest frequency being exhibited in young females. This microorganism should be investigated in sexually-active young women, regardless of their symptomatic or asymptomatic status.
Assuntos
Adolescente , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis , Fatores Etários , Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis/genética , Chlamydia trachomatis/isolamento & purificação , DNA Bacteriano/análise , Interpretação Estatística de Dados , Reação em Cadeia da Polimerase , Prevalência , Cervicite Uterina/diagnóstico , Cervicite Uterina/microbiologia , Venezuela/epidemiologiaRESUMO
OBJECTIVE: Evaluating Chlamydia trachomatis infection prevalence in a group of symptomatic and asymptomatic females attending gynaecology services in health centres in Maracaibo in the state of Zulia in Venezuela. METHODOLOGY: 168 patients attending two health centres in Maracaibo were included in this study. Gynaecological evaluation was based on examining the pelvis, deep areas of the vagina and the cervix. Patients were classified into groups according to age and the presence of clinical manifestations. Two DNA amplification assays of endogenous plasmid and the omp1 gene taken from endocervical swabs were used for investigating C. trachomati. RESULTS: 168 patients were evaluated; 81 (48,2 %) were symptomatic and 87 (51,8 %) asymptomatic, A 7,7 % prevalence (p>0.05) was found in the total population (9,9 % prevalence for symptomatic patients and 5,8 % for asymptomatic ones). The 18- 28 year old patient group exhibited the highest prevalence (13,7 %) (p=0.0322). The predominant clinical manifestations were mucopurulent secretion (35,8 %) and cervicitis (21 %). C. trachomatis was detected in 7,1 % of patients having mucopurulent secretion and 23,5 % of cervicitis cases; however, no significant association between infection and individual clinical manifestations was shown (p>0.05). CONCLUSION: Medium C. trachomatis infection prevalence was found In the population being assessed here, the highest frequency being exhibited in young females. This microorganism should be investigated in sexually-active young women, regardless of their symptomatic or asymptomatic status.