Polimorfismo genético ACTN3 R577X en deportistas universitarios chilenos / ACTN3 R577X gene polymorphism in Chilean college athletes

Uno de los principales factores genéticos que influenciarían el rendimiento muscular humano es el gen ACTN3, que codifica la proteína estructural del sarcómero α-actinina-3. El polimorfismo R577X (rs1815739) del gen ACTN3 ha sido asociado con varios indicadores de rendimiento muscular y físico en deportistas y población general, pero este fenómeno ha sido escasamente descrito en poblaciones de Latinoamérica y Chile. Por lo tanto, el objetivo del presente estudio fue describir la frecuencia genotípica y distribución alélica de los genotipos de ACTN3 R577X en deportistas universitarios chilenos. 129 deportistas universitarios chilenos representantes de diferentes selecciones deportivas (halterofilia, balonmano, voleibol, rugby, basquetbol, futbol y futsal) participaron como voluntarios. Los análisis moleculares del polimorfismo R577X del gen ACTN3 fueron realizados mediante reacción en cadena de la polimerasa (PCR) y restricción enzimática (RFLP). La distribución de genotipos del polimorfismo ACTN3 R577X fue RR: 34,8 % (n=45), RX: 50,4 % (n=65), XX: 14,7 % (n=19), y la frecuencia relativa de alelos fue R: 0,601 y X: 0,399. Además, se encontró asociación entre distribución de genotipos (c2= 12,26; 2 gl; p=0,002) y frecuencia relativa de alelos (c2= 11.02; 1 gl; p=0.0009) con el sexo de los participantes. Sin embargo, no hubo asociación al realizar análisis por tipo de deporte practicado. Los hallazgos de la presente investigación sugieren que el polimorfismo R577X del gen ACTN3 está asociado con el sexo en deportistas universitarios chilenos. Además, estos resultados describen de forma inédita la distribución genotípica y frecuencia alélica de esta variante genética en población chilena, mostrando una distribución similar a otros estudios realizados en poblaciones de deportistas en Brasil, Rusia, Estados Unidos y Turquía. No obstante, también muestra diferencias con otras poblaciones generales y de deportistas.

One of the main genetic factors that influence the muscular performance is the gene that encodes the structural protein α-actinin-3 (ACTN3). The R577X polymorphism (rs1815739) of ACTN3 has been associated with indicators of muscle and physical performance in athletes and general population, but this has been scarcely described in the Latin American and Chilean population. Thus, the aim of the present study was to describe the genotypic frequency and allelic distribution of ACTN3 R577X genotypes in college athletes. A total of 129 unrelated Chilean college athletes representing various sport disciplines (weightlifting, handball, volleyball, rugby, basketball, soccer and futsal) were volunteered for the study. ACTN3 R577X gene polymorphism was analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). For the total sample the genotypes distribution for R577X polymorphism was RR: 34.8 % (n=45), RX: 50.4 % (n=65), XX: 14.7 % (n=19), and the relative frequency of alleles was R: 0,601 and X: 0,399. Moreover, an association was found between genotype distribution (c2= 12.26; 2 df; p=0.002) and allele frequencies (c2= 11.02; 1 df; p=0.0009) with the sex of the participants. However, there were no associations when performing analysis by type of sports. These findings suggest that the R577X polymorphism of the ACTN3 gene is associated with sex in Chilean college athletes. Furthermore, these results describe in an unprecedented manner, the genotypic distribution and allelic frequency of this genetic variant in Chilean population, showing a similar distribution to other studies conducted in populations of athletes in Brazil, Russia, the United States and Turkey. However, it also shows differences with other general and athletes populations.

Association of polymorphisms within the Renin-Angiotensin System with metabolic syndrome in a cohort of Chilean subjects

ABSTRACT Objective Metabolic syndrome (MetS) is associated with hypertension, obesity and dyslipidemia. Thus, genetic variants related with these conditions may modulate its development. We evaluated the effect of polymorphisms in the renin-angiotensin system (RAS) on metabolic syndrome risk in a cohort of Chilean subjects. Subjects and methods A total of 152 subjects, 83 with MetS (51.2 ± 9.6 years) and 69 without MetS (49.5 ± 9.3 years) of both genders were included, according to the ATP III update criteria. The rs4340 Insertion/Deletion (I/D), rs699 (T>C) and rs5186 (A>C) of the ACE, AGT and AGTR1 genes, respectively, were genotyped. Results After adjusting for age and gender, we observed the DD genotype of rs4340 associated with MetS (p = 0.02). Specifically, the DD genotype was associated with MetS risk in women (OR = 4.62, 95%CI, 1.41 – 15.04; p < 0.01). In males, the AA genotype for rs5186 variant was associated with an increased risk for developing MetS when compared with women carrying the same genotype (OR = 3.2; 95%CI, 1.03 – 9.89; p = 0.04). In subjects without MetS, DD genotype was associated with increased waist circumference (p = 0.023) while subjects with MetS carrying the rs5186 TT genotype showed higher levels of HDL-cholesterol (p = 0.031). Conclusion The present study contributes data highlighting the role for RAS polymorphisms in predisposing to metabolic syndrome in Chilean subjects.

Chemical and botanical characterization of Chilean propolis and biological activity on cariogenic bacteria Streptococcus mutans and Streptococcus sobrinus

Propolis is a non-toxic natural substance with multiple pharmacological properties including anticancer, 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 µgmL-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.

Asociación de polimorfismos de los genes CRF-BP, SLC6A4 y restricción alimentaria crónica: un estudio preliminar / CRF-BP and SLC6A4 gene polymorphisms among restrained eaters

Background: Restrained eaters (RE) are a group of individuals who constantly restrict their eating. However, they usually alternate restriction with periods of overeating. Aim: To evaluate the possible association of CRF-BP and SLC6A4 gene polymorphisms with chronic alimentary restriction. Material and Methods: The Spanish version of the Revised Restraint Scale was applied to 132 women aged 18 to 25 years. They were divided in a group classified as restrained eaters (RE) and a group of unrestrained eaters. The 5-HTTLPR and CRF-BPs11 polymorphisms of the SLC6A4 and CRF-BP genes were evaluated by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP), respectively. Results: There was a significant association between the s/s homozygous genotype for the 5-HTTLPR polymorphism of SLC6A4 gene and RE condition (p = 0.033). However, this association was not observed for the CRF-BPs11 polymorphism. Conclusions: The presence of s/s genotype is associated with the RE condition, being the presence of a s allele, a risk factor for this condition.

El propóleos reduce la esteatosis hepática inducida por dieta en ratones / Propolis decrease diet-induced hepatic steatosis in mice

El hígado graso no alcohólico (HGNA), comprende un amplio espectro de lesiones, que van desde esteatosis hepática, hasta cirrosis y carcinoma hepatocelular, siendo sus principales factores de riesgo los desordenes asociados a síndrome metabólico (SM). El propóleos, sustancias resinosa elaborada por Apis mellifera para la protección de la colmena, ha demostrado un efecto hepatoprotector, así el objetivo de esta investigación fue evaluar el efecto de un propóleos chileno sobre el desarrollo de esteatosis hepática no alcohólica en ratones C57BL/6J sometidos a una dieta aterogénica tipo Paigen. Veintiocho ratones (C57BL/6J), divididos en: 1, dieta balanceada (CH); 2, dieta hipercolesterolémica (HC); 3, dieta HC + 10 mg/kg/día de propóleos (BP); 4, dieta HC + 40 mg/kg/día de propóleos (AP). Después de 16 semanas, se determinó la concentración de glucosa, colesterol total, triglicéridos y los niveles de alanina aminotransferasa (ALAT). El tejido hepático fue fijado en una solución de formalina tamponada al 10 por ciento para, posteriormente, ser incluido en paraplast y teñido con Hematoxilina-Eosina y fragmanetos congelados a -30C fijados en formalina teñidos con tinción Oil red O. No existieron diferencias en la concentración de glucosa ni triglicéridos, a diferencia del colesterol total, entre el grupo alimentado con dieta balanceada (CH) y los alimentados con la dieta aterogénica D12336 (HC, BP y AP). De la misma forma se observó que existen diferencias en los niveles de actividad de ALAT entre los grupos estudiados, destacando su reducción en los grupos suplementados con propóleos (BP y AP). De forma concordante, la histoarquitectura del grupo HC, mostró esteatosis simple y focos de infiltrado leucocitario en el lobulillo hepático, observándose una disminución gradual de las alteraciones en los grupos de BP y AP. En conclusión, el propóleos chileno estudiado disminuye la esteatosis hepática inducida por la dieta aterogénica tipo Paigen en ratones C57BL/6J, sin embargo, los mecanismos implicados en esta actividad hepatoprotectora tienen que ser identificados.

Nonalcoholic fatty liver disease (NAFLD) covers a wide spectrum of injuries ranging from simple steatosis to cirrhosis and hepatocellular carcinoma. Its main risk factors are disorders associated with metabolic syndrome (MS). Propolis, a resinous substance produced by Apis mellifera to protect is hive, has demonstrated a hepatoprotective effect. Thus, the aim of this study was to evaluate the effect of Chilean propolis on development of nonalcoholic hepatic steatosis in C57BL/6J mice exposed to Paigen atherogenic diet. Twenty eight mice C57BL/6J were divided four groups: 1, balanced diet (CH); 2, hypercholesterolemic diet (HD); 3, HD diet supplemented with 10 mg/kg/day of propolis (LP); 4, HD diet supplemented with 40 mg/kg/day of propolis (HP). After 16 weeks of treatment was determined glucose, total cholesterol and triglycerides concentrations and alanine aminotransferase (ALT) activity. The liver tissue was fixed in 10 percent buffered formalin solution, embedded in paraplast and stained with hematoxylin-eosin. No differences was detected in glucose and triglycerides concentrations, contrasting with total cholesterol levels between group fed with a balanced diet (CH) and feed with atherogenic diet D12336 (HD, LP and HP). In the same way, it was noted differences in ALT activity between groups, standing out the reduction in propolis supplemented groups (LP and HP). Likewise the histoarchitecture of HD group, showed simple steatosis, inflammatory cell infiltration and inflammatory foci in hepatic lobule. This characteristics show a gradual decrease in LP and HP groups. In conclusion, the Chilean propolis analyzed decreases hepatic steatosis induced by atherogenic diet in C57BL/6J mice. However, the involved mechanisms in this hepatoprotective activity must be identified.

Polimorfismo 2212A>G del gen PECAM-1 en individuos chilenos con enfermedad coronaria y controles / Effect of 2212A>G Polymorphism of PECAM-1 gene in Chilean subjects with coronary disease and controls

Introducción: La transmigración de leucocitos al espacio subendotelial es uno de los eventos claves en el desarrollo de la enfermedad arterial coronaria, siendo PECAM-1 (Platelet-endothelial cell adhesion molecule-1)una de las moléculas de adhesión responsables de este proceso. Objetivo: El objetivo de este trabajo fue evaluar la posible asociación entre el polimorfismo 2212A>G del gen PECAM-1 y enfermedad arterial coronaria. Pacientes y Método: Fueron evaluados 98 individuos con enfermedad coronaria confirmada angiográficamente (estenosis mayor al 70%) y 106 controles, por medio de la reacción en cadena de la polimerasa seguida de restricción enzimática (PCR-RFLP).Resultados: Los genotipos y frecuencias alélicas para el polimorfismo estudiado son similares en los dos grupos evaluados (p = 0.085 y p = 0.495 respectivamente). La OR relacionada al alelo mutado G fue 0.87 (I.C. 95%, 0.59 – 1.29, p = NS). Conclusión: El polimorfismo 2212A>G del gen PECAM-1 no se encuentra asociado con enfermedad arterial coronaria en individuos Chilenos.

Background: The transendothelial migration of leukocytes is a key event in coronary artery disease (CAD) development. Platelet endothelial cell adhesion molecule-1 (PECAM-1) is a cellular adhesion molecule responsible of this process. Aim: to investigate the possible association between 2212A>G polymorphism at the PECAM-1 gene and CAD in Chilean individuals. Methods: A total of 98 individuals whit CAD confirmed by angiography (>70% of stenosis) and 106 healthy controls were evaluated. The 2212A>G polymorphism at the PECAM-1 gene was analyzed by Polymerase Chain Reaction(PCR) and restriction fragment length polymorphism (RFLP). Results: The distribution of genotypes and relatives frequencies of alleles were similar between cases and controls (p = 0.085 and p = 0.495 respectively). The Odds Ratio of CAD whit the G allele was 0.87 (C.I: 95%, 0.59 –1.29;NS). Conclusion: 2212A>G polymorphism of the PECAM-1 gene was not associated whit CAD in Chilean individuals.

Polimorfismo C373G del gen PECAM-1 en individuos chilenos con enfermedad coronaria y controles / Polymorphism C373G of the PECAM-1 gene in chilean subjects with coronary disease and controls

The platelet endothelial cell adhesion molecule-1 (PECAM-1), a 130-kDa membrane glycoprotein, is expressed on the surface of monocytes, some T-lymphocyte subsets, neutrophils, platelets and endothelial cells. PECAM-1 plays a key role in the transendothelial migration of circulating leukocytes during vascular inflammation. The aim of the present investigation was to evaluate the association between the C373G polymorphism of the PECAM-1 gene and coronary artery disease in Chilean subjects. A total of 220 individuals were investigated (112 cases and 108 controls). The presence of coronary artery disease was confirmed by angiography (Stenosis >70 percent). The C373G polymorphism was detected by polymerase chain reaction followed enzymatic restriction. The genotype frequencies were in agreement with those predicted by the Hardy-Weinberg equilibrium in both groups. The genotype distribution and the relative alíele frequencies for C373G polymorphism of the PECAM-1 gene were similar between cases and controls (P= 0.820 and P= 0.739, respectively). Moreover, the OR associated with the mutated G alíele was 0.92 (C.I. 95 percent, 0.54 - 1.57; P=NS). In summary, our study showed that C373G polymorphism of the PECAM-1 gene is not associated with coronary artery disease in the population analyzed.

La molécula de adhesión celular endotelial plaquetaria-1 (PECAM-1) es una glicoproteína de membrana expresada por células endoteliales, plaquetas, monocitos, neutro filos y algunos tipos de linfocitos T. Constituye una pieza clave en la extravasación de leucocitos a través de las uniones intercelulares del endotelio vascular durante el proceso inflamatorio. El objetivo de nuestro estudio fue determinar la asociación entre el polimorfismo C373G (Leul25 Val) del gen PECAM-1 y enfermedad coronaria, en individuos chilenos. Se estudió un total de 220 individuos (112 casos y 108 controles). La presencia de enfermedad coronaria fue confirmada mediante angiografía (estenosis > 70 por ciento). El polimorfismo C373G, fue detectado mediante la técnica de reacción en cadena de polimerasa seguida de restricción enzimática. Las frecuencias genotípicas observadas en ambos grupos cumplen con la ley de Hardy-Weinberg. La distribución de genotipos como la frecuencia relativa de alelos para el polimorfismo C373G del gen PECAM-1, fueron similares entre casos y controles (p = 0.820 y p = 0.739, respectivamente). Además, la OR asociada al alelo mutado G fue 0.92 (I.C. 95 por ciento, 0.54-1.57; p= NS). Los datos obtenidos sugieren que el polimorfismo C373G del gen PECAM-1 no está asociado a enfermedad coronaria en la población analizada.

Frecuencia de la variante C373G del gen PECAM-1 en individuos chilenos con enfermedad coronaria y controles / Frequency of C373G polymorphism of the PECAM-1 gene in Chilean subjects with coronary artery

Introducción: La molécula de adhesión celular endotelial plaquetaria-1 (PECAM-1) es una glicoproteína de membrana expresada por células endoteliales, plaquetas, monocitos, neutrófilos y algunos tipos de linfocitos T. Constituye una pieza clave en la extravasación de leucocitos a través de las uniones intercelulares del endotelio vascular durante el proceso inflamatorio. Objetivo: Determinar la asociación entre el polimorfismo C373G del gen PECAM-1 y enfermedad coronaria en individuos de la Región de La Araucanía. Métodos: Fueron evaluados 220 individuos (112 casos y 108 controles). La presencia de enfermedad coronaria fue confirmada mediante angiografía (estenosis > 70 por ciento). El polimorfismo C373G fue detectado mediante la técnica de reacción en cadena de polimerasa seguida de restricción enzimática (PCR-RFLP). Resultados: Las frecuencias genotípicas observadas en ambos grupos cumplen con la ley de Hardy-Weinberg. Se observó que tanto la distribución de genotipos, como la frecuencia relativa de alelos para el polimorfismo C373G del gen PECAM-1, fueron similares entre casos y controles (p = 0.820 y p = 0.739, respectivamente). Además, la OR asociada al alelo mutado G fue 0.92 (I.C. 95 por ciento, 0.54 - 1.57; p = NS). Conclusión: Los datos obtenidos sugieren que el polimorfismo C373G del gen PECAM-1 no está asociado a enfermedad coronaria en la población analizada.

Background: Platelet endothelial cell adhesion molecule-1 (PECAM-1) is a transmembrane glycoprotein of 130 kDa expressed by platelets, vascular endothelial cells and most circulating leukocytes, this molecule is a keystone of the transmigration process during the inflammatory process. Aim: We investigated the association between the C373G polymorphism and the development of CAD in individuals of our population. Methods: A total of 220 individuals were included in this study. The patients whit diagnosis of CAD was confirmed by angiography (>70 percent of stenosis). The C373G was analyzed using Polymerase chain Reaction followed by restriction fragment length polymorphism (PCR-RFLP). Results: All genotype frequency distributions were in Hardy–Weinberg equilibrium. The distribution of genotypes and relatives frequencies of alleles were similar between cases and controls (p = 0.820 and p = 0.739 respectively). Furthermore, the Odds Ratio of CAD associated to G allele was 0.92 (C.I: 95 percent, 0.54 – 1.57; p>0.05). Conclusion: This information suggests that C373G polymorphism of the PECAM-1 gene was not associated whit CAD in Chilean individuals.