Key insights

• ⚛️ Multifactorial diseases result from the interaction of multiple genes and environmental factors, such as diabetes type 2.
• 🧬 Understanding the complex inheritance pattern of diseases like obesity can aid in prevention or delay of their development.
• 🔍 Identification of genetic variants and environmental factors that surpass the effect threshold and cause clinical signs.
• 🎯 Genetic marker's risk is determined by R value: R=1 for no predisposition, R>1 for increased predisposition, and R<1 may be protective.
• 🧩 Poligenism involves the association of multiple genetic blocks, quantified by the Poligenic Risk Score (PRS), aiding in risk assessment and preventive measures.

Q&A

• What is poligenismo and how is it calculated?

  Poligenismo involves the association of multiple genetic blocks that result in final effects. The polygenic risk score (PRS) is used to quantify the genetic risk of developing a disease. It calculates the chance of developing a disease based on the association between various related genes. This technology increases awareness of genetic risks, enabling the implementation of preventive measures and appropriate treatments.

• How is the risk for disease manifestation determined?

  The risk for disease manifestation is determined by the genetic marker's value of R. R=1 indicates no predisposition, R>1 indicates increased predisposition, and R<1 may be a protective factor. Multifactorial diseases involve many unknown genetic variants, and the inherited risk is related to multiple genes.

• What is the role of genetic studies in identifying disease associations?

  Genetic studies are used to identify genetic variants and environmental factors that surpass the effect threshold and cause clinical signs. These studies compare groups of cases and controls, analyze the frequency of SNPs to identify genetic alterations associated with disease, and calculate the odds ratio to determine the association between genetic markers and disease development.

• How can knowledge of complex inheritance patterns of diseases like obesity help?

  Understanding the complex inheritance pattern of diseases like obesity can aid in the prevention or delay of their development. Disease manifestation involves a combination of genetic and environmental factors, which can vary in their impact. Variants can be common or rare and have varying effects on disease manifestation.

• What are multifactorial diseases?

  Multifactorial diseases result from the interaction of multiple genes and environmental factors. Examples of multifactorial diseases include Alzheimer's, congenital malformations, diabetes, and hypertension. Diabetes type 2, for example, is a metabolic disease resulting from insulin resistance. Genes play a role in increasing the risk of developing diabetes type 2.

• 00:00 O vídeo aborda os fatores de risco genéticos relacionados ao desenvolvimento de doenças como diabetes e hipertensão, incluindo herança multifatorial, epigenética e risco poligênico.
• 00:51 Doenças multifatoriais resultam da interação de múltiplos genes e fatores ambientais, incluindo diabetes tipo 2 como exemplo. Genes familiares aumentam o risco de desenvolvimento da doença.
• 01:43 Knowledge of the complex inheritance pattern of diseases like obesity can aid in prevention or delay of their development. Disease manifestation requires a combination of genetic and environmental factors, which can vary in their impact.
• 02:35 Identificação de variantes genéticas e fatores ambientais que causam manifestação de sinais clínicos. Uso de estudos genéticos para comparar grupos de casos e controles. Cálculos de frequência de SNPs e razão de chances para determinar associação com doença.
• 03:34 The genetic marker's risk for disease manifestation is determined by the value of R. R=1 means no increased predisposition, R>1 increases predisposition, and R<1 may be a protective factor. Multifactorial diseases involve many unknown genetic variants, and the inherited risk is related to multiple genes.
• 04:23 O poligenismo é a associação entre múltiplos blocos genéticos que resultam em efeitos finais. O PRP é uma ferramenta que calcula o risco poligênico, ajudando a quantificar a chance de desenvolver uma doença com base na associação entre vários genes relacionados. Essa tecnologia é valiosa para aumentar a conscientização sobre os riscos genéticos, permitindo a realização de medidas preventivas e tratamentos adequados.