Nicolás Saavedra

Universidad de La Frontera, Temuco, Region de la Araucania, Chile

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Publications (27)36.64 Total impact

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    ABSTRACT: Several biological activities have been described for polyphenolic compounds, including a modulator effect on the immune system. The effects of these biologically active compounds on the immune system are associated to processes as differentiation and activation of immune cells. Among the mechanisms associated to immune regulation are epigenetic modifications as DNA methylation of regulatory sequences, histone modifications and posttranscriptional repression by microRNAs that influences the gene expression of key players involved in the immune response. Considering that polyphenols are able to regulate the immune function and has been also demonstrated an effect on epigenetic mechanisms, it is possible to hypothesize that there exists a mediator role of epigenetic mechanisms in the modulation of the immune response by polyphenols.
    Nutrients 01/2013; 5(7):2314-2332. · 2.07 Impact Factor
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    ABSTRACT: Propolis is a non-toxic natural substance with multiple pharmacological properties including anti-cancer, antioxidant, fungicidal, antibacterial, antiviral, and anti-inflammatory among others. The aim of this study was to determine the chemical and botanical characterization of Chilean propolis samples and to evaluate their biological activity against the cariogenic bacteria Streptococcus mutans and Streptococcus sobrinus. Twenty propolis samples were obtained from beekeeping producers from the central and southern regions of Chile. The botanical profile was determined by palynological analysis. Total phenolic contents were determined using colorimetric assays. Reverse phase HPLC and HPLC-MS were used to determine the chemical composition. The minimum inhibitory concentration (MIC) was determined on S. mutans and S. sobrinus. All propolis samples were dominated by structures from native plant species. The characterization by HPLC/MS, evidenced the presence of quercetin, myricetin, kaempferol, rutine, pinocembrin, coumaric acid, caffeic acid and caffeic acid phenethyl ester, that have already been described in these propolis with conventional HPLC. Although all propolis samples inhibited the mutans streptococci growth, it was observed a wide spectrum of action (MIC 0.90 to 8.22 μg mL(-1)). Given that results it becomes increasingly evident the need of standardization procedures, where we combine both the determination of botanical and the chemical characterization of the extracts. Research conducted to date, describes a promising effectiveness of propolis in the prevention of caries and other diseases of the oral cavity, making it necessary to develop studies to identify and understand the therapeutic targets or mechanisms of molecular action of the various compounds present on them.
    Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology]. 01/2013; 44(2):577-85.
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    ABSTRACT: Proteins NPC1L1, ABCG5 and ABCG8 are involved in the intestinal absorption of cholesterol. Ezetimibe inhibits this process by blocking NPC1L1, however, its effect on ABCG5 and ABCG8 is not yet clear. Thus, the objective of this study was to evaluate in C57BL / 6 mice with diet-induced hypercholesterolemia treated with ezetimibe, the expression of NPC1L1, ABCG5 and ABCG8 by real time PCR and Western blot, in 3 groups of animals: 1, diet hypercholesterolemic D12336, 2, D12336 diet plus 5 mg/kg/ day of ezetimibe, 3, diet control. The serum level of total cholesterol was significantly different between groups (control: 1.85 ± 0.49 mmol / L; diet D12336: 3.11 ± 0.73 mmol / L; ezetimibe: 2.11 ± 0.50 mmol / L, P = 0.001). NPC1L1 gene expression increased 5.4-fold in the group receiving the diet D12336 (P = 0.003). Furthermore, the gene expression of ABCG5 and ABCG8 was not different in the group with hypercholesterolemia (P = 0.239 and P = 0.201, respectively). After treatment with ezetimibe, ABCG5 gene expression was increased 15.6 times (P = 0.038). No significant differences in gene expression of NPC1L1 (P = 0.134) and ABCG8 (P = 0.067). Regarding protein expression, the D12336 diet increased the levels of expression of NPC1L1 (P = 0.022) and ABCG5 (P = 0.008), treatment with ezetimibe increased the levels of NPC1L1 (P = 0.048) and reduced levels of ABCG5 (P = 0.036) and ABCG8 (P = 0.016). In conclusion, our results suggest that both hypercholesterolemic diet as treatment with ezetimibe, in an experimental model, affect the expression levels of NPC1L1, ABCG5 and ABCG8, suggesting that ABCG5 and ABCG8 are involved in lipid-lowering response to this drug. However, the mechanism by which this interaction is explained requires further study
    International Journal of Morphology 10/2012; 30(2):531-540. · 0.21 Impact Factor
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    ABSTRACT: In this study we evaluated the possible association between five single nucleotide polymorphisms in ABCG5 (rs6720173) and ABCG8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in Chilean hypercholesterolemic subjects. A total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. These subjects were treated with ezetimibe (10mg/day) during one month. The ABCG5 and ABCG8 genotypes were assessed by PCR-RFLP. The genotype distribution of the ABCG5/ABCG8 polymorphisms was in Hardy-Weinberg equilibrium. Our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. Nevertheless, the T allele of rs6544718 polymorphism was related to higher baseline levels of LDL-cholesterol (p<0.001). In addition, the G allele for the rs4148211 polymorphism was associated with greater baseline concentrations of triglycerides (P=0.019). This allele was also associated with lower concentrations of HDL-cholesterol (P=0.027), after ezetimibe treatment. Our results suggest that the studied polymorphisms do not affect the therapeutic response to ezetimibe in the evaluated subjects.
    International Journal of Morphology 10/2012; 30(2):688-695. · 0.21 Impact Factor
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    ABSTRACT: Phytate-mineralizing rhizobacteria (PMR) perform an essential function for the mineralization of organic phosphorus but little is known about their ecology in soils and rhizosphere. In this study, PCR-based methods were developed for detection and quantification of the Bacillus β-propeller phytase (BPP) gene. Experiments were conducted to monitor the presence and persistence of a phytate-mineralizing strain, Bacillus sp. MQH19, after inoculation of soil microcosms and within the rhizosphere. The occurrence of the BPP gene in natural pasture soils from Chilean Andisols was also examined. The results showed that the Bacillus BPP gene was readily detected in sterile and nonsterile microcosms, and that the quantitative PCR (qPCR) methods could be used to monitor changes in the abundance of the BPP gene over time. Our results also show that the addition of phytate to nonsterile soils induced the expression of the BPP gene in the rhizosphere of ryegrass and the BPP gene was detected in all pasture soils sampled. This study shows that phytate addition soils induced changes in the abundance and expression of Bacillus BPP to genes in the rhizosphere and demonstrates that Bacillus BPP gene is cosmopolitan in pasture soils from Chilean Andisols.
    FEMS Microbiology Ecology 08/2012; · 3.56 Impact Factor
  • International Journal of Morphology 12/2011; 29(4):1296-1302. · 0.21 Impact Factor
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    ABSTRACT: Interindividual differences in activity and expression of the metabolizing enzymes cytochrome P450 (CYP) 3A4 and 3A5 and the multidrug efflux pump P-glycoprotein (P-gp, encoded by ABCB1 gene) contribute considerably to lipid-lowering efficacy of statin treatment in subjects with hypercholesterolemia. Variability in the activity of CYP3A4, CYP3A5 and P-gp could be considered to result from genetic polymorphisms encoding their genes. However, the available data indicate that the frequencies of ABCB1, CYP3A4 and CYP3A5 gene polymorphisms differ significantly across populations. Thus, the aim of the present study was to determine the allelic frequency of three common variants of these genes in Chilean individuals with primary hypercholesterolemia (HC) and controls. A total of 135 unrelated patients (44 ± 7 years old) with diagnosis of hypercholesterolemia (Total cholesterol 240 mg/dL) and 120 normolipidemic healthy controls (40 ± 10 years old; total cholesterol 200 mg/dL) were included in this study. The 3435C>T (MDR1), -290A>G (CYP3A4) and 6986A>G (CYP3A5) gene polymorphisms were analyzed by PCR-RFLP. The genotype distribution for 3435C>T variant of ABCB1 in HC patients (CC: 49%, CT: 37%, TT: 14%) and controls (CC: 41%, CT: 48%, TT: 11%) was comparable (P=0.186). Similarly, the genotype distribution for -290A>G polymorphism of CYP3A4 in HC subjects (AA: 73%, AG: 27%, GG: 0%) and controls (AA: 71%, AG: 29%, GG: 0%) was equivalent (P = 0.863). Finally, the genotype distribution for 6986A>G variant of CYP3A5 in HC individuals (AA: 4%, AG: 41%, GG: 55%) and controls (AA: 4%, AG: 47%, GG: 49%) was similar (P=0.594). The allelic frequencies of 3435C>T (ABCB1), -290A>G (CYP3A4) and 6986A>G (CYP3A5) polymorphisms are similar between Chilean HC patients and controls, and comparable to frequencies found in Asian populations.
    International Journal of Morphology 12/2011; 29(4):1296-1302. · 0.21 Impact Factor
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    ABSTRACT: Statins are normally the first-line therapy for hypercholesterolemia (HC); however, the lipid-lowering response shows high interindividual variation. We investigated the effect of four polymorphisms in CYP3A4, CYP3A5 and ABCB1 genes on response to atorvastatin and CYP3A4 activity in Chilean subjects with HC. A total of 142 hypercholesterolemic individuals underwent atorvastatin therapy (10mg/day/1month). Serum lipid levels before and after treatment were measured. Genetic variants in CYP3A4 (-290A>G, rs2740574), CYP3A5 (6986A>G, rs776746) and ABCB1 (2677G>A/T, rs2032582 and 3435C>T, rs1045642) were analyzed by PCR-RFLP. CYP3A4 enzyme activity in urine samples was assessed through determination of 6β-hydroxycortisol/cortisol free ratio (6βOHC/FC). After 4weeks of therapy, a significant reduction in total cholesterol (TC) and LDL-c was observed (P<0.001). The G allele for -290A>G polymorphism was related to higher percentage of variation in TC and LDL-c (P<0.001). Moreover, same allele was associated with higher HDL-c variation (P=0.017). In addition, CYP3A4 enzyme activity was lower in subjects carrying this polymorphism (P=0.009). No differences were observed for CYP3A5 and ABCB1 variants. Our results suggest that presence of G allele for -290A>G polymorphism determines a better response to atorvastatin, being also associated with lower CYP3A4 activity in vivo, causing an increased atorvastatin activity.
    Clinica chimica acta; international journal of clinical chemistry 11/2011; 413(3-4):495-501. · 2.54 Impact Factor
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    ABSTRACT: PCSK9 is a key regulator of LDL-C, enhancing degradation of hepatic LDLr. Several gain-of-function and loss-of-function mutations in PCSK9 have been linked to hypercholesterolemia (HC) and hypocholesterolemia, respectively. In the present study, we evaluated the effect of rs505151 (23968A>G) polymorphism of PCSK9 over atorvastatin and ezetimibe therapies in Chilean subjects with HC. Both therapies diminished significantly total and LDL cholesterol serum levels (P<0.001). When we evaluated the response to atorvastatin, only the individuals carrying AA genotype presented a significant reduction of total cholesterol (274 vs. 231 mg/dL, p<0.001) and LDL-c levels (186 vs. 145 mg/dL, p<0.001). In summary, our data suggest that rs505151 affects lipid-lowering response to atorvastatin but does not modified therapeutic response to ezetimibe in the population investigated. Thus, this polymorphism could be a helpful genetic marker to predict the response to atorvastatin in our population.
    Proceedings of the 9th International Congress of Coronary Artery Disease; 10/2011
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    ABSTRACT: In the current study, we investigated the effect of propolis on diabetic mice undergoing propolis treatment (150 mg/kg/day) for a 6 week period. We also evaluated serum lipids, glucose, insulin levels and the effect on glucose uptake of 2-deoxy-D-[2,6-3H] glucose, [14C]-glycogen synthesis and [U-14C]-D-glucose decarboxylation induced by insulin in muscle tissue. Our results show that treatment with propolis (150 mg/kg/day) reduced insulin and HOMA index (P<0.05). Propolis also lowered abdominal obesity (P<0.05). No effects over serum glucose, total cholesterol and triglycerides levels were observed. We also observed that uptake of 2-deoxy-D-[2,6-3H] glucose, [14C]-glycogen synthesis and [U-14C]-D-glucose decarboxylation induced by insulin in soleus muscle of mice treated with propolis were significantly greater than control group (P<0.05). In summary, our data establishes that propolis modulates glucose metabolism. This result constitutes important data indicating that propolis can be used as a polyphenols source with antidiabetogenic activity.
    International Journal of Morphology 09/2011; 29(3):754-761. · 0.21 Impact Factor
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    ABSTRACT: To investigate the possible association between the codon 72 polymorphism (Pro72Arg, rs1042522) of the tumor suppressor gene (TP53) and the presence of coronary artery disease (CAD) in Chilean subjects. A total of 209 unrelated patients with a diagnosis of CAD confirmed by angiography (33-74 years old) and 216 healthy controls (30-68 years old) were included in this study. The Pro72Arg polymorphism of the TP53 gene was evaluated by PCR-RFLP. The genotype distribution for the Pro72Arg variant of the TP53 gene in CAD patients (PP: n = 13, 6.2%; PR: n = 61, 29.4%; RR: n = 135, 64.6%) and controls (PP: n = 18, 8.3%; PR: n = 94, 43.5%; RR: n = 104, 48.1%) was significantly different (p = 0.003). Similarly, the allelic frequency was also different (p = 0.003). The odds ratio for CAD related to the 72Arg allele was 2.0 (95% CI = 1.33-2.90), confirming the presence of an association. These findings suggest that the Pro72Arg polymorphism of the TP53 gene is associated with CAD in Chilean individuals.
    Medical Principles and Practice 01/2011; 20(2):171-6. · 0.96 Impact Factor
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    ABSTRACT: Introducción: Múltiples genes y sus polimorfismos han sido asociados al origen de la formación de la placa aterosclerótica y subsecuentemente el desarrollo de enfermedad cardiovascular. Uno de estos genes implicados, es el que codifica para la proteína C reactiva (CRP), importante marcador proinflamatorio y de inflamación. Entre las variantes identificadas en este gen, el polimorfismo rs3040244 C>T>A ha sido asociado a elevados niveles de CRP-hs. Sin embargo, los resultados obtenidos entre poblaciones son contradictorios. Objetivo: investigar la asociación entre el polimorfismo rs3091244 y niveles séricos de CRP-hs en individuos de la región de La Araucanía. Métodos: Se determinó la concentración sérica de CRP-hs a 157 sujetos adultos sin parentesco entre ellos. La genotipificación del polimorfismo rs3091244 se realizó mediante la técnica de PCR-RFLP Resultados: La distribución de genotipos para el polimorfismo rs3091244 del gen CRP fue la siguiente: CC 11.5%, CT 45.2%, TT 31.2%, CA 5.0% y TA 7.0%. Los portadores de los genotipos TT y TA presentaron elevadas concentraciones séricas de CRP-hs cuando comparadas al genotipo de referencia CC (p=0.030 y p=0.002, respectivamente). Conclusión: Nuestros datos demuestran que el polimorfismo rs3091244 del gen CRP contribuye para el aumento de los niveles séricos de CRP-hs, y por tanto incrementa el riesgo cardiovascular.
    Revista Chilena de Cardiología. 01/2011; 30(1):22-27.
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    ABSTRACT: 2011. Effect of Chilean propolis on cariogenic bacteria Lactobacillus fermentum. Cien. Inv. Agr. 38(1): 117-125. Dental caries is an infectious disease of worldwide public health concern. Among the bacteria involved in this pathology are Streptococcus mutans, Streptococcus sobrinus and organisms belonging to the genera Actinomyces and Lactobacillus. The pharmaceutical industry is focussing on the discovery of new antibacterial products after a greater resistance to those already known. Propolis has been used since ancient times, so their effects against various microorganisms have been already investigated. In our study, we evaluated the antimicrobial effect of 6 commercial ethanolic propolis extracts on the bacterium Lactobacillus fermentum. This bacterium was isolated after its identification by Polymerase Chain Reaction using species specific primers, and after growing microbiological samples from cavities of patients diagnosed with dental caries and with indication of tooth extraction. L. fermentum was detected in 9 of 40 patients, corresponding to 22%. The susceptibility study, carried out by microplate dilution, found antimicrobial activity in four of the six ethanolic extract of propolis used. These differ in the effective concentration against the microorganism, which can be attributed to factors such as the botanical origin, geographic location and harvest season. Among the results, it was noticed that these polyphenols showed concentrations ranging between 9 ± 0.3 and 85 ± 2.1 mg/mL. The chromatographic analysis allowed the identification of caffeic acid, myricetin, quercetin, kaempherol, apigenin, pinocembrin, galangin and caffeic acid phenethyl ester (CAPE). Our study demonstrates the antimicrobial action of propolis on L. fermentum, the patogen related to caries development.
    Ciencia e investigación agraria 01/2011; 38:117-125. · 0.44 Impact Factor
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    ABSTRACT: In the current study, we investigated the effect of propolis on diabetic mice undergoing propolis treatment (150 mg/kg/day) for a 6 week period. We also evaluated serum lipids, glucose, insulin levels and the effect on glucose uptake of 2-deoxy-D-[2,6-3H] glucose, [14C]-glycogen synthesis and [U-14C]-D-glucose decarboxylation induced by insulin in muscle tissue. Our results show that treatment with propolis (150 mg/kg/day) reduced insulin and HOMA index (P<0.05). Propolis also lowered abdominal obesity (P<0.05). No effects over serum glucose, total cholesterol and triglycerides levels were observed. We also observed that uptake of 2-deoxy-D-[2,6-3H] glucose, [14C]-glycogen synthesis and [U-14C]-D-glucose decarboxylation induced by insulin in soleus muscle of mice treated with propolis were significantly greater than control group (P<0.05). In summary, our data establishes that propolis modulates glucose metabolism. This result constitutes important data indicating that propolis can be used as a polyphenols source with antidiabetogenic activity.
    International Journal of Morphology. 01/2011; 29(3-29):754-761.
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    ABSTRACT: Background: Diabetes mellitus type 2 (DMT2) is a well know cardiovascular risk factor and has been related to subclinic atherosclerosis, which might be explained by the presence of a common genetic basis in both diseases. Several polymorphisms of the cal-pain-10 gene (CAPNIO) have been associated with insulin resistance and DMT; nevertheless, there is insufficient evidence about their relation with corogene in Southern Chilean subjects iseasea ndc ontrols nary artery disease (CAD). Thus, in the present study we investigated the possible association between the SNP-43 variant of CAPNIO and the presence of CAD in Chilean subjects. Methods: A total of 218 unrelated patients with diagnosis of CAD confirmed by angiography (33-74 years old) and 194 healthy controls (30 - 68 years old) were included in this study. The SNP43 variant of the CAPNIO gene was evaluated by PCR-RFLP. Results: The genotype distribution for SNP43 variant of CAPNIO gene in CAD patients (GG: 51.4 %; GA: 42.7 %; AA: 5.9 %) and controls (GG: 59.6%; GA: 35.1%; AA: 5.2%) was similar (P=0.228). Similarly, the allelic frequency was no different (P = 0.200). The OR for CAD related to AA homozygous genotype was 1.17 (95%C.I. = 0.50 - 2.72), confirming the absence of association. Conclusion: These findings suggest that the SNP43 polymorphism of the CAPNIO gene is not associated to CAD in the studied individuals.
    Revista Chilena de Cardiología. 08/2010; 29(2):201-206.
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    ABSTRACT: Background: Adiponectin, encoded by ADIPOQ gene, is a hormone secreted by adipocytes that acts inhibiting the atheromatous plaque formation, modulating the inflammatory response and inhibiting the expression of adhesión molecules with subsequent inhibition of adhesión and macrophage activation, foam cells formation and migration and proliferación of smooth muscle cells. Aim: to evaluate the possible association between the rs2241766 polymorphism of the ADIPOQ gene with coronary artery disease (CAD) in Southern Chilean subjects. Methods: We evaluated 416 unrelated individuáis (38 -68 years oíd); 200 with CAD confirmed by angiography and 216 control individuáis from Temuco city (Chile). The rs2241766 polymorphism (45T>G) of ADIPOQ gene was determined by PCR-RFLP. Results: CAD patients exhibited a high frequeney of G allele when compared to controls (17% vs. 9%; p<0.001). The OR for CAD associated to G alíele was 2.06 (95%CI: 1.36 - 3.14) confirming the association observed. Conclusión: Our data show that the rs2241766 ADIPOQ gene polymorphism contributed to CAD risk in the studied population.
    Revista Chilena de Cardiología. 08/2010; 29(2):214-220.
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    ABSTRACT: Background: Several genetic variants have been linked to the development of coronary heart disease and/or their riskfactors, including the S19Wand-1131T> C polymorphisms ofthe gene that encodes apolipoprotein A5 (APOA5). Thus, the objective ofthis study was to investígate the possible association between S19W and -1131T>C genetic variants ofAPOA5 and coronary disease in Chilean individuals. Methods: We evaluated 425 not related subjects; 209 patients with coronary artery disease (CAD) confirmed by angiography (stenosis→ 70%,), aged between 33 and 74 years, and 216 control individuáis (30 to 68 years). The genotyping of S19W and -1131T>C polymorphisms of APOA5 gene was evaluated by PCR-RFLP. Results: The genotype distríbution of S19W polymorphism of APOA5 gene in CAD patients (SS: 80%,, SW: 19%, WW: 1 %>) and controls (SS: 82%,, SW: 17%, WW: 1 %>) was similar (p = NS). In the same way the genotype distríbution of-1131T>C genetic variantin CAD subjects (TT: 56%,, TC: 37%,, and CC: 7%>) and controls (TT: 63%,, TC: 30%, and CC: 7%o) was equivalent (p = NS). The Odds ratios related to the mutant alleles 19W (1.12, 95%, Cl, 0.72 - 1.74, p = NS) and -1131C (1.19, 95%, Cl, 0.87 -1.63, p = NS) confirms the absence of association. On the otherhand, the triglycerides and fasting glucose concentrations were significantly higher in subjects carrying the alleles 19W and -1131C, in both groups, CAD patients and controls (p <0.05). Conclusion: The observed association between genetic variants of APOA5 and higher serum levels of triglycerides and glucose, in both groups, suggesting that these polymorphisms could be contribute to the development ofdiabetic dyslipidemia, a known risk factor for coronary artery disease.
    Revista Chilena de Cardiología. 01/2010; 29(1):19-27.
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    ABSTRACT: Introducción: Variaciones moleculares en el gen de la arginasa I, ARGl, podrían provocar un aumento de la expresión de la enzima o de su actividad, lo que puede llevar a una disfunción endotelial al disminuir la producción de óxido nítrico por parte de la eNOS. Así, el objetivo del presente estudio fue investigar la posible asociación del polimorfismo rs2781666 G>T y la presencia de enfermedad coronaria (confirmada con an-giografía) en individuos de la región de La Araucanía. Material y Métodos: En el presente estudio, de tipo casos y controles, fueron evaluados 247 sujetos, con edades entre 30 y 74 años; 124 individuos pacientes con enfermedad arterial coronaria (casos) y 123 controles. La genotipificación del polimorfismo rs2781666 del gen ARGl fue realizada mediante PCR- RFLR Resultados: La frecuencia del genotipo homocigo-to TT para el polimorfismo rs2781666 del gen ARGl fue de 6.5% en el grupo casos y 8% en el grupo control, difiriendo significativamente (p=0.032). La frecuencia relativa del alelo T también presentó diferencias significativas entre casos y controles (0.230 vs. 0.325, p=0.031). La OR relacionada al alelo mutado T fue de 0.63 (I.C. 95%, 0.43 - 0.94), confirmando la presencia de la asociación observada. Conclusión: Los resultados obtenidos sugieren que el polimorfismo rs2781666 G>T del gen ARGl confiere protección contra enfermedad coronaria en la población analizada. Sin embargo, este resultado debe ser replicado en otros grupos poblacionales de nuestro país.
    Revista Chilena de Cardiología. 01/2010; 29(3):316-321.
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    ABSTRACT: Background: Several genetic variants have been linked to the development ofcoronary heart disease and/or their riskfactors, including the S19Wand-1131T> C polymorphisms ofthe gene that encodes apolipoprotein A5 (APOA5). Thus, the objective ofthis study was to investígate the possible association between S19W and -1131T>C genetic variants ofAPOA5 and coronary disease in Chilean individuáis. Methods: We evaluated 425 not related subjects; 209 patients with coronary artery disease (CAD) confirmed by angiography (stenosis→ 70%,), aged between 33 and 74 years, and 216 control individuáis (30 to 68 years). The genotyping of S19W and -1131T>C polymorphisms of APOA5 gene was evaluated by PCR-RFLP. Results: The genotype distríbution of S19W polymorphism of APOA5 gene in CAD patients (SS: 80%,, SW: 19%, WW: 1 %>) and controls (SS: 82%,, SW: 17%, WW: 1 %>) was similar (p = NS). In the same way the genotype distríbution of-1131T>C genetic variantin CAD subjects (TT: 56%,, TC: 37%,, and CC: 7%>) and controls (TT: 63%,, TC: 30%, and CC: 7%o) was equivalent (p = NS). The Odds ratios related to the mutant alleles 19W (1.12, 95%, Cl, 0.72 - 1.74, p = NS) and -1131C (1.19, 95%, Cl, 0.87 -1.63, p = NS) confirms the absence of association. On the otherhand, the triglycerides and fasting glucose concentrations were significantly higher in subjects carrying the alleles 19W and -1131C, in both groups, CAD patients and controls (p <0.05). Conclusion: The observed association between genetic variants of APOA5 and higher serum levels of triglycerides and glucose, in both groups, suggesting that these polymorphisms could be contribute to the development ofdiabetic dyslipidemia, a known risk factor for coronary artery disease.
    Rev Chil Cardiol. 01/2010; 29(1):19-27.
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    ABSTRACT: Introducción: Diferentes genes han sido implicados en la etiología de la enfermedad arterial coronaria, entre ellos, el gen TP53. Recientemente, el polimorfismo en el codon 72 (Pro72Arg, rs1042522) del gen TP53 fue señalado como factor de riesgo para enfermedad arterial coronaria. Sin embargo, otros autores no han confirmado esta observación. Así, en el presente estudio investigamos la posible asociación entre esta variante genética y la presencia de enfermedad arterial coronaria en individuos chilenos. Métodos: Se analizaron 209 pacientes, no relacionados, con diagnóstico de enfermedad arterial coronaria confirmada por angiografía (estenosis > 70%), 33 - 74 años y 216 individuos controles (30-68 años). Las concentraciones séricas de glucosa, acido úrico, triglicéridos, colesterol total y colesterol HDL fueron determinados por métodos enzimático-colorimétricos. El polimorfismo Pro72Arg del gen TP53 fue identificado mediante la técnica de reacción en cadena de polimerasa seguida de restricción enzimática (PCR-RFLP). Resultados: La distribución de genotipos para la mutación Pro72Arg del gen TP53 en pacientes y controles fue significativamente diferente (P=0.003). Adicionalmente, la frecuencia relativa de alelos fue también diferente (P=0.003). La OR para enfermedad coronaria relacionada al alelo 72Arg fue 2.0 (I.C.95%=1.33-2.90), confirmando la presencia de asociación. Por otro lado, no encontramos asociación entre los factores de riesgo tradicionales para enfermedad coronaria y los diferentes genotipos del polimorfismo Pro72Arg. Conclusión: Nuestro estudio muestra una interesante asociación entre enfermedad coronaria y el polimorfismo Pro72Arg del gen TP53 en individuos chilenos, sugiriendo que esta mutación podría ser útil como marcador genético de esta patología. Sin embargo, esta observación necesita ser reconfirmada con un estudio poblacional.
    Revista Chilena de Cardiología. 08/2009; 28(2):151-157.