New candidate SNPs for genetic association with Alzheimer's disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes

Background Two new SNPs have been recently associated to Alzheimer's disease in African American populations: FCGRIIB rs1050501 C/T, and PILRA rs1859788 A/G. The risk of Alzheimer's disease in FCGRIIB C and PILRA A allele carriers is three times higher than in non-carriers. However, the association between these and other single nucleotide polymorphisms (SNPs) has not been assessed. Methods Linkage disequilibrium analysis, with r= 0.8 as a threshold value, was used to impute new candidate SNPs, on genomic data from both genes in 26 populations worldwide (n= 2504) from the 1000Genomes database. Results Four SNPs (rs13376485, rs3767640, rs3767639 and rs3767641) were linked to rs1050501 and one (rs2405442) to rs1859788 in the whole sample. Conclusions Five novel SNPs could be associated with Alzheimer's disease susceptibility and play a causal role, even if none of them are exon variants since their potential roles in the regulation of gene expression.

Antecedentes Recientemente se han asociado dos nuevos polimorfismos de un solo nucleótido (SNP) a la enfermedad de Alzheimer en poblaciones afroamericanas: FCGRIIB rs1050501 C/T, y PILRA rs1859788 A/G. El riesgo de enfermedad de Alzheimer en los portadores de los alelos FCGRIIB C y PILRA A es tres veces mayor que en los no portadores. Sin embargo, no se ha evaluado la asociación entre estos y otros SNP. Métodos Se utilizó el análisis de desequilibrio de ligamiento, con r2= 0,8 como valor umbral, para imputar nuevos SNPs candidatos, sobre datos genómicos de ambos genes en 26 poblaciones de todo el mundo (n= 2504) de la base de datos 1000Genomes. Resultados Cuatro SNPs (rs13376485, rs3767640, rs3767639 y rs3767641) se vincularon al rs1050501 y uno (rs2405442) al rs1859788 en toda la muestra. Conclusiones Cinco nuevos SNP podrían estar asociados con la susceptibilidad a la enfermedad de Alzheimer y desempeñar un papel causal, aunque ninguno de ellos sea una variante de exón, dado su papel potencial en la regulación de la expresión génica.

New candidate SNPs for genetic association with Alzheimer's disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes.

Background: Two new SNPs have been recently associated to Alzheimer's disease in African American populations: FCGRIIB rs1050501 C/T, and PILRA rs1859788 A/G. The risk of Alzheimer's disease in FCGRIIB C and PILRA A allele carriers is three times higher than in non-carriers. However, the association between these and other single nucleotide polymorphisms (SNPs) has not been assessed. Methods: Linkage disequilibrium analysis, with r= 0.8 as a threshold value, was used to impute new candidate SNPs, on genomic data from both genes in 26 populations worldwide (n= 2504) from the 1000Genomes database. Results: Four SNPs (rs13376485, rs3767640, rs3767639 and rs3767641) were linked to rs1050501 and one (rs2405442) to rs1859788 in the whole sample. Conclusions: Five novel SNPs could be associated with Alzheimer's disease susceptibility and play a causal role, even if none of them are exon variants since their potential roles in the regulation of gene expression.

Antecedentes: Recientemente se han asociado dos nuevos polimorfismos de un solo nucleótido (SNP) a la enfermedad de Alzheimer en poblaciones afroamericanas: FCGRIIB rs1050501 C/T, y PILRA rs1859788 A/G. El riesgo de enfermedad de Alzheimer en los portadores de los alelos FCGRIIB C y PILRA A es tres veces mayor que en los no portadores. Sin embargo, no se ha evaluado la asociación entre estos y otros SNP. Métodos: Se utilizó el análisis de desequilibrio de ligamiento, con r2= 0,8 como valor umbral, para imputar nuevos SNPs candidatos, sobre datos genómicos de ambos genes en 26 poblaciones de todo el mundo (n= 2504) de la base de datos 1000Genomes. Resultados: Cuatro SNPs (rs13376485, rs3767640, rs3767639 y rs3767641) se vincularon al rs1050501 y uno (rs2405442) al rs1859788 en toda la muestra. Conclusiones: Cinco nuevos SNP podrían estar asociados con la susceptibilidad a la enfermedad de Alzheimer y desempeñar un papel causal, aunque ninguno de ellos sea una variante de exón, dado su papel potencial en la regulación de la expresión génica.

Percepción de apoyo social en padres de niños con diabetes mellitus tipo 1

Fundamento: el apoyo de familiares y del equipo de salud a los padres cuidadores de sus hijos diabéticos es fundamental para el afrontamiento a los cambios que provoca esta enfermedad en la dinámica familiar. Objetivo: describir la percepción de los padres cuidadores sobre el apoyo familiar y de los Sistemas de Salud en el comienzo de sus hijos con diabetes mellitus tipo 1. Métodos: estudio cualitativo descriptivo realizado mediante entrevista semiestructurada a cuatro padres cuidadores de niños con diagnóstico de diabetes tipo 1. El consentimiento informado fue realizado vía Google Forms y la entrevista fue vía plataforma ZOOM. Las entrevistas tuvieron una duración de 30 minutos. El análisis de las entrevistas se realizó utilizando el programa ATLAS.ti versión 22. Resultados: el comienzo de la enfermedad de los niños fue recibido por los padres con mucha confusión y falta de conocimiento. En cuanto a las redes de apoyo, los padres declararon la soledad como vivencia en el cuidado de los niños y, en relación a los equipos de salud, relataron que está enfocada en los cuidados básicos que tenían que cumplir, como la alimentación y el control glucémico, con ausencia de preocupación por el apoyo emocional. Conclusiones: las necesidades de apoyo desde los equipos de salud, a los padres cuidadores, más allá del control de la enfermedad, es una necesidad explícita desde la evidencia, que aún no ha sido considerada por los Sistemas de Salud. El apoyo debe trascender la familia, con una actuación importante de los profesionales de la salud y todo el contexto en que están insertos los niños, para contribuir a un manejo adecuado de la enfermedad.

Foundation: the support of family members and the health team for parents caring for their diabetic children is essential for facing with the changes that this disease causes in family dynamics. Objective: to describe the perception of parent caregivers about family support and Health Systems at the beginning of their children with type 1 diabetes mellitus. Methods: qualitative descriptive study carried out through semi-structured interviews with four parent caregivers of children with a diagnosis of type 1 diabetes. Informed consent was carried out via Google forms and the interview was via the ZOOM platform. The interviews lasted 30 minutes. The analysis of the interviews was carried out using the ATLAS.ti version 22 program. Results: the beginning of the children's illness was received by parents with much confusion and lack of knowledge. Regarding the support networks, the parents declared loneliness in the experience of caring for the children and, in relation to the health teams, they reported that it is focused on the basic care that they had to fulfill, such as food and hygiene, glycemic control, with absence of concern for emotional support. Conclusions: the support needs from health teams to parent caregivers, beyond disease control, is an explicit need from the evidence, which has not yet been considered by Health Systems. Support must go beyond the family, with important action by health professionals and the entire context in which children are inserted, to contribute to adequate management of the disease.

Population analysis of the CLOCK rs3749474T-rs4864548A haplotype and its relationship with obesity. / Análisis poblacional in silico del haplotipo CLOCK rs3749474T-rs4864548A y su relación con obesidad.

It has been suggested that the rs3749474T/rs4864548A haplotype of the CLOCK gene increases the risk of obesity, but the population variability of these alleles and the haplotype is unknown. This research aims to determine the linkage between the rs3749474T and rs4864548A alleles from the database of 1000Genomes to confirm the existence of the TA haplotype polymorphisms of these alleles and their frequency in five macro populations. Linkage disequilibrium and haplotype frequencies for 2504 individuals from 26 populations were analyzed using the r statistic and Fisher's exact test. There is a high frequency of the TA haplotype in Latin America (44.8%), a high linkage disequilibrium (r2= 0.92) worldwide between these alleles, a high differentiation between macro populations, and a high homogeneity. The evidence warrants further studies on the association between this haplotype and the risk of obesity and overweight in Latin American populations.

Se ha sugerido que el haplotipo rs3749474T/rs4864548A del gen CLOCK aumentaría el riesgo de obesidad, pero se desconoce el patrón de variabilidad poblacional de estos alelos y del haplotipo. El objetivo de este estudio es determinar el nivel de ligamiento entre los alelos de riesgo rs3749474T y rs4864548A a partir de la base de datos 1000Genomes para confirmar la existencia del haplotipo TA de los polimorfismos rs3749474-rs4864548 del gen CLOCK y su frecuencia cinco macro poblaciones. Se analizó el desequilibrio de ligamiento y las frecuencias haplotípicas para 2504 individuos, de 26 poblaciones, utilizando el estadístico r y la prueba exacta de Fisher. Existe una alta frecuencia del haplotipo TA en Latinoamérica (44,8%), un alto desequilibrio de ligamiento (r= 0,92) a nivel mundial entre esos alelos, una alta diferenciación entre macro poblaciones y una alta homogeneidad al interior de ellas. La evidencia presentada permite sugerir la realización de posteriores estudios de asociación entre este haplotipo y el nivel de riesgo de obesidad y sobrepeso en poblaciones latinoamericanas.

population analysis of the CLOCK rs3749474T-rs4864548A haplotype and its relationship with obesity / Análisis poblacional in silico del haplotipo CLOCK rs3749474T-rs4864548A y su relación con obesidad

Se ha sugerido que el haplotipo rs3749474T/rs4864548A del gen CLOCK aumentaría el riesgo de obesidad, pero se desconoce el patrón de variabilidad poblacional de estos alelos y del haplotipo. El objetivo de este estudio es determinar el nivel de ligamiento entre los alelos de riesgo rs3749474T y rs4864548A a partir de la base de datos 1000Genomes para confirmar la existencia del haplotipo TA de los polimorfismos rs3749474-rs4864548 del gen CLOCK y su frecuencia cinco macro poblaciones. Se analizó el desequilibrio de ligamiento y las frecuencias haplotípicas para 2504 individuos, de 26 poblaciones, utilizando el estadístico r y la prueba exacta de Fisher. Existe una alta frecuencia del haplotipo TA en Latinoamérica (44,8%), un alto desequilibrio de ligamiento (r= 0,92) a nivel mundial entre esos alelos, una alta diferenciación entre macro poblaciones y una alta homogeneidad al interior de ellas. La evidencia presentada permite sugerir la realización de posteriores estudios de asociación entre este haplotipo y el nivel de riesgo de obesidad y sobrepeso en poblaciones latinoamericanas.

It has been suggested that the rs3749474T/rs4864548A haplotype of the CLOCK gene increases the risk of obesity, but the population variability of these alleles and the haplotype is unknown. This research aims to determine the linkage between the rs3749474T and rs4864548A alleles from the database of 1000Genomes to confirm the existence of the TA haplotype polymorphisms of these alleles and their frequency in five macro populations. Linkage disequilibrium and haplotype frequencies for 2504 individuals from 26 populations were analyzed using the r statistic and Fisher's exact test. There is a high frequency of the TA haplotype in Latin America (44.8%), a high linkage disequilibrium (r2= 0.92) worldwide between these alleles, a high differentiation between macro populations, and a high homogeneity. The evidence warrants further studies on the association between this haplotype and the risk of obesity and overweight in Latin American populations.

Investigating the Mechanical, Thermal, and Crystalline Properties of Raw and Potassium Hydroxide Treated Butea Parviflora Fibers for Green Polymer Composites.

The only biotic factor that can satisfy the needs of human species are plants. In order to minimize plastic usage and spread an immediate require of environmental awareness, the globe urges for the development of green composite materials. Natural fibers show good renewability and sustainability and are hence utilized as reinforcements in polymer matrix composites. The present work concerns on the usage of Butea parviflora fiber (BP), a green material, for high end applications. The study throws light upon the characterization of raw and potassium hydroxide (KOH)-treated Butea Parviflora plant, where its physical, structural, morphological, mechanical, and thermal properties are analyzed using the powder XRD, FTIR spectroscopy, FESEM micrographs, tensile testing, Tg-DTA, Thermal conductivity, Chemical composition, and CHNS analysis. The density values of untreated and KOH-treated fibers are 1.238 g/cc and 1.340 g/cc, respectively. The crystallinity index of the treated fiber has significantly increased from 83.63% to 86.03%. The cellulose content of the treated fiber also experienced a substantial increase from 58.50% to 60.72%. Treated fibers exhibited a reduction in both hemicelluloses and wax content. Spectroscopic studies registered varying vibrations of functional groups residing on the fibers. SEM images distinguished specific changes on the raw and treated fiber surfaces. The Availability of elements Carbon, Nitrogen, and Hydrogen were analyzed using the CHNS studies. The tensile strength and modulus of treated fibers has risen to 192.97 MPa and 3.46 Gpa, respectively. Thermal conductivity (K) using Lee's disc showed a decrement in the K values of alkalized BP. The activation energy Ea lies between 55.95 and 73.15 kJ/mol. The fibers can withstand a good temperature of up to 240 °C, presenting that it can be tuned in for making sustainable composites.

Intermittent Fasting and Reduction of Inflammatory Response in a Patient with Ulcerative Colitis.

Ulcerative colitis is an inflammatory disease that affects the colon, generating a crisis period associated with diarrhea and ulcerations. Stress plays a pivotal role in modulating the inflammatory response and aggravating progression. Different studies have shown that fasting reduces inflammation markers, and intermittent fasting decreases inflammatory markers such as IL-2, IL-6, and RCP. Goal: To evaluate the impact of intermittent fasting on a patient diagnosed with ulcerative colitis. A female patient underwent intermittent fasting (10/14) for eight weeks. Clinical tests were performed for blood count, RCP, biochemical profile, glycemia, and T4/TSH levels. Fecal calprotectin was determined. Clinical exams were assessed before and after intermittent fasting. Inflammation markers, such as CRP and calprotectin, were significantly reduced after eight weeks of intermittent fasting. The patient reported feeling better and was seizure-free during the following months when she continued fasting intermittently. Intermittent fasting allowed for a reduction in inflammation markers.