Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study

The aim of the present study was to investigate whether genetic markers considered risk factors for metabolic syndromes, including dyslipidemia, obesity and type 2 diabetes mellitus (T2DM), can be applied to a Northeastern Mexican population. A total of 37 families were analyzed for 63 single nucleotide polymorphisms (SNPs), and the age, body mass index (BMI), glucose tolerance values and blood lipid levels, including those of cholesterol, low‑density lipoprotein (LDL), very LDL (VLDL), high‑density lipoprotein (HDL) and triglycerides were evaluated. Three genetic markers previously associated with metabolic syndromes were identified in the sample population, including KCNJ11, TCF7L2 and HNF4A. The KCNJ11 SNP rs5210 was associated with T2DM, the TCF7L2 SNP rs11196175 was associated with BMI and cholesterol and LDL levels, the TCF7L2 SNP rs12255372 was associated with BMI and HDL, VLDL and triglyceride levels, and the HNF4A SNP rs1885088 was associated with LDL levels (P\u3c0.05)

Oceanographic Observations in Chilean Coastal Waters Between Valdivia and Concepcion

The physical oceanography of the biologically productive coastal waters of central Chile (36 degrees to 40 degrees S) is relatively unknown. In December 1998 we made a short exploratory cruise between Valdivia (40 degrees S) and Concepcion (37.8 degrees S) taking temperature, salinity, oxygen, and current velocity profiles. Coincident sea surface temperature and color measurements were obtained by satellite. The results showed an area dominated by wind-induced coastal upwelling, river runoff, intrusion of offshore eddies, mixing, and heating. Upwelling centers were found over the shelf at three locations: inshore of Mocha Island, off Valdivia, and off Lavapie Point. At these centers, equatorial subsurface water (ESSW) intrudes into the coastal waters, sometimes affecting the surface waters. Since ESSW has characteristically low-oxygen and high-salinity values, it is easily detected. Off Valdivia, runoff imparts stratification, while farther north, solar heating and reduced mixing may facilitate stratification. In some areas, even strong winds would not destroy the stratification imparted by the advection of buoyancy that occurs during the upwelling process. Strong equatorward currents (\u3e1 m s(-1)) in the form of an upwelling jet were found off Lavapie Point. This is also the location of an intruding anticyclone. Elsewhere, currents were mainly northward but highly variable because of intrusions from offshore eddies. The sea surface temperature and ocean color images show a complex field of onshore and offshore intrusions combined with the effects of mixing on chlorophyll concentrations. The residence time of upwelled water on the shelf is estimated to be less than 1 week

Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes

Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study

Abstract. The aim of the present study was to investigate whether genetic markers considered risk factors for metabolic syndromes, including dyslipidemia, obesity and type 2 diabetes mellitus (T2DM), can be applied to a Northeastern Mexican population. A total of 37 families were analyzed for 63 single nucleotide polymorphisms (SNPs), and the age, body mass index (BMI), glucose tolerance values and blood lipid levels, including those of cholesterol, low-density lipoprotein (LDL), very LDL (VLDL), high-density lipoprotein (HDL) and triglycerides were evaluated. Three genetic markers previously associated with metabolic syndromes were identified in the sample population, including KCNJ11, TCF7L2 and HNF4A. The KCNJ11 SNP rs5210 was associated with T2DM, the TCF7L2 SNP rs11196175 was associated with BMI and cholesterol and LDL levels, the TCF7L2 SNP rs12255372 was associated with BMI and HDL, VLDL and triglyceride levels, and the HNF4A SNP rs1885088 was associated with LDL levels (P<0.05)

Premios MetaComunicación: un proyecto para el aprendizaje de la gestión de intangibles en las organizaciones

El proyecto 'Premios MetaComunicación' es una experiencia docente, enmarcada en la asignatura Gabinetes de Comunicación, de tercer curso del Grado en Periodismo, con la que los alumnos de esta asignatura, impartida por el profesor Joaquín Sotelo González en la Facultad de Ciencias de la Información, ponen en práctica los planteamientos teóricos de la asignatura. En esencia, se trata de una iniciativa con la que se premia a algunos de los mejores profesionales de la Comunicación en España, según el criterio de los propios estudiantes de la Facultad de Ciencias de la Información de la Universidad Complutense de Madrid

A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers

Background: The genetic variation underlying atorvastatin (ATV) pharmacokinetics was evaluated in a Mexican population. Aims of this study were: 1) to reveal the frequency of 87 polymorphisms in 36 genes related to drug metabolism in healthy Mexican volunteers, 2) to evaluate the impact of these polymorphisms on ATV pharmacokinetics, 3) to classify the ATV metabolic phenotypes of healthy volunteers, and 4) to investigate a possible association between genotypes and metabolizer phenotypes. Methods: A pharmacokinetic study of ATV (single 80-mg dose) was conducted in 60 healthy male volunteers. ATV plasma concentrations were measured by high-performance liquid chromatography mass spectrometry. Pharmacokinetic parameters were calculated by the non-compartmental method. The polymorphisms were determined with the PHARMAchip® microarray and the TaqMan® probes genotyping assay. Results: Three metabolic phenotypes were found in our population: slow, normal, and rapid. Six gene polymorphisms were found to have a significant effect on ATV pharmacokinetics: MTHFR (rs1801133), DRD3 (rs6280), GSTM3 (rs1799735), TNFα (rs1800629), MDR1 (rs1045642), and SLCO1B1 (rs4149056). The combination of MTHFR, DRD3 and MDR1 polymorphisms associated with a slow ATV metabolizer phenotype. Conclusion: Further studies using a genetic preselection method and a larger population are needed to confirm these polymorphisms as predictive biomarkers for ATV slow metabolizers

La inmigración en la UE. Situación y perspectivas para Euskadi

Jornada: La inmigración en la UE. Situación y perspectivas para Euskadi 4 y 5 de noviembre de 200

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Heredabilidad de la obesidad en el noreste de México. Estudio basado en el índice de masa corporal de diadas (madre-hijo). 6 Cuarta época, año 2 (2018) septiembre-diciembre. Diario de Campo. Nombrar y contar. Visibilidad estadística de las poblaciones afromexicanas

El propósito de este estudio de genética cuantitativa consiste en estimar la heredabilidad (h2) del índice de masa corporal (IMC) en 2 840 diadas madre-descendiente con residencia en cinco estados del noreste de México. La h2 total entre los cinco estados fue de 51.6% y no se encontraron diferencias entre ellas (X2 = 5.24, p = 0.26). En conclusión, desde un punto de vista de la epidemiologia genética, cualquiera de estas poblaciones es ideal para la búsqueda de genes candidatos no sólo de la obesidad (OB), sino de otras enfermedades multifactoriales.Alcalde-Rabanal, Jacqueline Elizabeth et al. (2018). “The complex scenario of obesity, diabetes and hypertension in the area of influence of primary healthcare facilities in Mexico”. PLoS One. 13 (1), e0187028. doi: 10.1371/journal.pone.0187028Barquera, Simón y White, Mariel (2018). “Treating obesity seriously in Mexico: Realizing, much too late, action must be immediate”. Obesity Research, 26 (10), pp. 1530-1531.Bastarrachea, Raúl et al. (2007). “Heritability and genetic correlations of metabolic disease-related phenotypes in Mexico: Preliminary report from the GEMM Family Study”, Human Biology, 79 (1), pp. 121-129.Calderón-Garcidueñas, Ana Laura et al. (2008). “Genetic structure of Mexican mestizo women with breast cancer based on three STR loci”. Human Biology, 20 (2), pp. 191-193.Candelero-Juárez, Yadira et al. (2016). “Mínima contribución genética de la obesidad y mínima concordancia entre la percepción materna del peso del hijo (PMPH) con el estado nutricio en Tabasco, México”.Medicina de Torreón, 8 (2), pp. 16-19.Center for Disease and Control Prevention. Overweight and Obesity (mayo, 2018). Recuperado de: https://www.cdc.gov/obesity/index.htmlCerda-Flores, Ricardo Martín et al. (2002). “Maximum likelihood estimates of admixture in Northeastern Mexico using 13 short tandem repeat loci”, American Journal of Human Biology, 14 (4), pp. 429-439._____ (2004). “Epidemiologia genética de la obesidad en el noreste de México. Estimación de la heredabilidad en adolescentes”, Revista de Investigación Clínica, 56 (6), pp. 804-805._____ (2013). “Genetic structure of Mexican Mestizos with type 2 diabetes mellitus based on three STR loci”,Gene, 525 (1), pp. 41-46.Dávila-Rodríguez, Martha I. et al. (2005). “Epidemiología genética de la obesidad en el noreste de México. Búsqueda de familias nucleares informativas”, Gaceta Médica de México, 141 (3), pp. 243-246.Del Río-Navarro, Blanca E. et al. (2004). “The high prevalence of overweight and obesity in Mexican children”, Obesity Research, 12 (2), pp. 215-223.Di Bonaventura, Marco et al. (2018). “Obesity in Mexico: prevalence, comorbidities, associations with patient outcomes, and treatment experiences”. Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, 22 (11), pp. 1-10.Elrod, Susan L., y William D. Stansfield (2010). Schaum’s Outline of Genetics (5a ed.). Nueva York: Mc Graw Hill.Flores-Peña, Yolanda et al. (2011). “Evaluation of the maternal perception of her child´s weight and body mass index heritability in mestizas dyads in Southeastern Mexico”, Archivos Latinoamericanos de Nutrición, 61 (4), pp. 389-395._____ (2014). “Homogeneity of maternal perception of child weight in Northeastern Mexico”. The Anthropologist, 17 (3), pp. 991-1001.Liu, Yong-Jun et al. (2003). “Molecular and genetic mechanisms of obesity: implications for future management”. Current Molecular Medicine, 3, pp. 325-340.Maes, Hermine H. et al. (1997). “Genetic and environmental factors in relative body weight and human adiposity”. Behavior Genetics, 27, pp. 325-351.Mechanick, Jeffrey I. et al. (2017). “Adiposity-Based Chronic Disease as a new diagnostic term: The American Association of Clinical Endocrinologists and American College of Endocrinology position statement”. Endocrine Practice, 23 (3), pp. 372-378.ton in Forensic Medicine. Springfield:Charles C. Thomas Publisher.Nelson, Tracy L. et al. (1999). “Genetic and environmental influences on waist-to hip ratio and waist circumference in an older Swedish twin population”. International Journal of Obesity and Related Metabolic Disorders, 23, pp. 449-455.Peraza-González, Irma (2010). Epidemiologia genética de la obesidad en familias nucleares de Mazatlán (tesis de maestría). Universidad Autónoma de Nuevo León, Monterrey.Rankinen, Tuomo et al. (2006). “The human obesity gene map: the 2005 update”. Obesity Research, 14 (4), pp. 529-644.Rose, Kathryn M. et al. (1998). “Genetic and behavioral determinants of waist-hip ratio and waist circumference in women twins”. Obesity Research, 6 (6), pp. 383-92.Sánchez-Castillo, Claudia P. et al. (2001). “Unusually high prevalence rates of obesity in four Mexican rural communities”. European Journal of Clinical Nutrition, 55, pp. 833-40._____ (2002). “Epidemiología de la obesidad”. En Nahúm Méndez y Misael Uribe, Obesidad, epidemiología, fisiopatología y manifestaciones clínicas (pp. 5-31). México: El Manual Moderno.Secretaría de Salud (2001). Programa Nacional de Salud 2001-2006. México: Secretaría de Salud.Snyder, Emily E. et al. (2004). “The human obesity gene map: the 2003 update”. Obesity Research, 12, pp. 369-439.Stunkard Albert J., y Thomas A. Wadden (eds.) (1993). Obesity: theory and therapy (2a ed). Nueva York: Raven Press.Walder Ken et al. (2000). “An autosomal genomic scan for loci linked to plasma leptin concentration in Pima Indians”. International Journal of Obesity and Related Metabolic Disorders, 24, pp. 559-565