Desentrañar la arquitectura genética de las familias múltiples de enfermedades inflamatorias intestinales con puntuaciones de riesgo poligénico de variantes raras y comunes
Contact us if these videos are not relevant.
Contact us if these videos are not relevant.
Ver abstracta en PubMed
Resumen
Este resumen es generado por máquina.El riesgo genético de enfermedad inflamatoria intestinal (EII) varía mucho en las familias. Si bien las variantes comunes y raras contribuyen, la genética del tabaquismo es menos relevante en las EII familiares en comparación con los casos esporádicos.
Área De La Ciencia
- La genética
- Gastroenterología
- La genética humana
Sus Antecedentes
- La enfermedad inflamatoria intestinal (EII) a menudo se agrupa en familias, lo que sugiere influencias genéticas y ambientales.
- Comprender los factores genéticos en las familias de EII múltiple es crucial para la etiología de la enfermedad.
- Este estudio investiga las variantes de riesgo genético y los determinantes genéticos relacionados con el tabaquismo en las familias de EII.
Objetivo Del Estudio
- Evaluar el papel de las variantes de riesgo de EII comunes y raras en familias múltiples.
- Evaluar la contribución de la predisposición genética al tabaquismo a las EII familiares.
- Comparar los perfiles de riesgo genético en familias múltiples frente a casos esporádicos de EII y controles.
Principales Métodos
- Análisis de 65 familias de EII múltiple (146 enfermedad de Crohn, 33 colitis ulcerosa, 111 familiares no afectados).
- Cálculo de las puntuaciones de riesgo poligénico (PRS) para las variantes comunes y raras (rvPRS).
- Comparación de PRS y rvPRS con 2.040 casos esporádicos de EII y 598 controles.
Principales Resultados
- Los parientes no afectados en familias múltiples tenían un PRS más bajo que los parientes afectados, pero más alto que los controles.
- No hay diferencias significativas en la variante rara de PRS (rvPRS) entre parientes afectados y no afectados.
- Heterogeneidad sustancial en el PRS y el rvPRS entre las familias; el fumar PRS no está asociado con la EII familiar.
Conclusiones
- Las familias de EII múltiple exhiben arquitecturas genéticas diversas, con muchas de ellas con una alta carga de variantes de riesgo comunes y/o raras.
- La predisposición genética al tabaquismo afecta el riesgo esporádico de EII, pero ofrece una visión limitada de la EII familiar.
- Los hallazgos subrayan la complejidad genética de la EII familiar, lo que requiere investigaciones personalizadas y estrategias de estratificación del riesgo.
Contact us Si estos videos no son relevantes.
Contact us Si estos videos no son relevantes.
Videos de Conceptos Relacionados
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Overview
A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.
Pedigrees Display Family Histories
In various plant and...