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Genetic Susceptibility to Infectious Diseases
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Genetic Susceptibility to Infectious Diseases

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Questions and Answers

What is a key factor that influences the risk of disease in individuals with a genetic predisposition?

  • Lifestyle factors
  • Environmental factors
  • Genetic modifiers
  • All of the above (correct)
  • What is an example of single-gene inheritance of an abnormal gene product?

  • Antigens of the major histocompatibility complex and Diabetes Mellitus Type I
  • Acetaldehyde dehydrogenase activity and alcoholism
  • Mutation in FH gene leading to familial hypercholesterolemia and early coronary artery disease (correct)
  • A genetic variation in the BRCA1 gene and breast cancer
  • What is the name of the initiative that combines 50 research groups throughout the UK to study genetic susceptibility to diseases?

  • The UK Genetics Research Initiative
  • The Genome-Wide Association Consortium
  • The National Institute of Health Research Programme
  • The Wellcome Trust Case Control Consortium (correct)
  • What is the term used to describe the study of genetic variation in disease risk?

    <p>Genetic susceptibility</p> Signup and view all the answers

    What is an example of a genetic variation that increases the risk of an infectious disease?

    <p>A variation in the HLA gene and susceptibility to HIV</p> Signup and view all the answers

    What is the term used to describe the study of genetic variation in the immune response?

    <p>Immune response genetics</p> Signup and view all the answers

    What is the role of host genetic factors in determining susceptibility to major infectious diseases?

    <p>They play a major role</p> Signup and view all the answers

    How many genes have been identified to have a major effect on infectious disease susceptibility in humans?

    <p>Six</p> Signup and view all the answers

    Which of the following genes has shown association with viral clearance and response to treatment in Hepatitis C?

    <p>IL-28B</p> Signup and view all the answers

    What is the association between HLA-B*5701 and HIV in European populations?

    <p>It is associated with a protective effect</p> Signup and view all the answers

    What is the role of SLC6A20 in COVID-19?

    <p>It encodes the sodium–proline transporter</p> Signup and view all the answers

    What is the association between blood group O and COVID-19?

    <p>It is associated with a lower risk of acquiring COVID-19</p> Signup and view all the answers

    What is the name of the gene that plays a major role in viral control in African-American populations in the context of HIV?

    <p>HLA-B*5703</p> Signup and view all the answers

    What is the name of the gene that encodes the chemokine receptors associated with COVID-19?

    <p>CCR9 and CXCR6</p> Signup and view all the answers

    What is the primary goal of a genome-wide association study (GWAS) in chronic diseases?

    <p>To identify genetic variants associated with disease risk</p> Signup and view all the answers

    Pharmacogenomics focuses on the role of genetic variation in influencing the response to what?

    <p>Drug treatment</p> Signup and view all the answers

    What is a major factor in determining an individual's susceptibility to infectious diseases?

    <p>Genetic variation in disease risk</p> Signup and view all the answers

    Which of the following is a key aspect of genetic susceptibility to infectious diseases?

    <p>Immune response genetics</p> Signup and view all the answers

    According to the Wellcome Trust Case Control Consortium, what is the scope of the genome-wide association study?

    <p>14,000 cases of seven common diseases and 3,000 shared controls</p> Signup and view all the answers

    Which of the following is a reference text that provides information on the genetic aspects of disease?

    <p>Emery's Elements of Medical Genetics</p> Signup and view all the answers

    Study Notes

    Genetic Susceptibility to Infectious Disease

    • Host genetic factors play a major role in determining differential susceptibility to major infectious diseases such as malaria, HIV/AIDS, tuberculosis, and invasive pneumococcal disease.
    • Six genes have been identified as having a major effect on infectious disease susceptibility in humans.

    Genetic Variants with Major Effect on Infectious Disease Susceptibility

    • GWA studies have identified susceptibility loci for chronic infections such as leprosy and chronic hepatitis B virus.
    • Specific genetic variants associated with infectious diseases include:
      • Leprosy: SNPs in genes CCDC122, C13orf31, NOD2, TNFSF15, HLA-DR, and RIPK2.
      • Hepatitis C: IL-28B gene variant associated with viral clearance and response to treatment.
      • HIV: HLA-B5701 variant associated with a protective effect in European populations, and HLA-B5703 variant associated with viral control in African-American populations.
      • COVID-19: Blood group O associated with a lower risk, blood group A associated with a higher risk, and genetic variants in SLC6A20, CCR9, and CXCR6 genes.

    From Genetic Susceptibility to Disease

    • Having a genetic predisposition to a disease does not guarantee development of the disease.
    • Multiple factors, including other genetic factors, lifestyle, and environmental factors, can influence the risk of disease.

    Main Mechanisms of Genetic Susceptibility

    • Single-gene inheritance of an abnormal gene product.
    • Inheritance of a single polymorphism.
    • Inheritance of several single-gene polymorphisms.

    Examples of Genetic Predisposition

    • Familial hypercholesterolemia and early coronary artery disease due to a mutation in the FH gene.
    • Acetaldehyde dehydrogenase activity and alcoholism.
    • Antigens of the major histocompatibility complex and Diabetes Mellitus Type I.

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    Description

    This quiz explores the role of host genetic factors in determining susceptibility to infectious diseases, including malaria, HIV/AIDS, and tuberculosis.

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