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MDD SAQ Topics - Coggle Diagram

- - - - P value <0.05 are statistically significant
  - - - GWAS needs large sample size for sufficient statistical power to detect associations
      - Rare variants by nature have low frequencies in the population
    - - To increase statistical power, GWAS excludes rare variants from analysis
    - - Genotyping arrays designed based on known variations in the population and might not detect rare variations
      - Imputation techniques used to infer genotypes of unmeasured variants based on correlation with nearby genotyped variants, but accuracy decreases for rare variations
    - - Rare variant genes are not labelled - potential biological effects unknown
      - Makes it hard to prioritise and interpret the potential impact of rare variants on complex traits / diseases
    - - Refers to when an individual carries a genetic variation, but not the associated disease or trait
      - Rare variants can have variable penetrance, meaning they don't always have a detectable phenotype or effect on a disease
      - Makes it hard to establish clear associations
  - - - Small sample size and low statistical significance
      - Excluded via allele frequency thresholds
    - - Cause they're so raaaarree
      - Makes it hard to analysis them
    - - Hard to establish associations
  - - - Higher sensitivity for rare variatns
    - - Increase statistical power
    - - Help our understanding of biological significance of rare variants
  - - - Can apply more stringent statistical thresholds
      - Increased confidence in significant hits
    - - Complex traits are influenced by multiple genetic variants
      - Larger, more diverse sample sizes captures a broader spectrum of genetic variation
        More comprehensive analysis of genetic architecture
    - - Higher chance of replicative studies
- - - - Only Type not antibody mediated
  - - - IgE mediated through mast cells and their
        mediators (cytokines, vasoactive amines)
    - - Inflammation
    - - Anaphylaxis
        Allergic asthma
  - - - IgM and IgG antibodies against cell surface or
        extracellular matrix antigens
    - - Cytotoxicity and phagocytosis
    - - Autoimmune hemolytic anaemia
        Transfusion reactions
        Graves disease
    - - Destruction of target cells or tissues by antibodies
      - Antibodies recognise and bind antigens on the surface of cells
        
        Destruction through compliment activation or antibody-dependant cell mediated cytotoxicity (ADCC)
        
        Antibodies may be produced against and deposit on cell or tissue antigens
  - - - Antigen-antibody-complement
    - - Inflammation
    - - IgG/IgM antibodies and circulating antigens
    - - Serum Sickness
      - Arthrus reaction
    - - Immune complexes accumulate in the tissue
        
        Activate complement system
        
        Trigger inflammation and attracts neutrophils
        
        Neutrophils release lysosomal enzymes
  - - - T-cells and Antigen presenting cells
        CD4+
        CD8+
    - - Cytotoxic
      - Inflammation
    - - 4Ts
        T cells
        Transplant recjections
        TB skin tests
        Touching - contact dermatitis
    - - APC presents antigen to T cells
        
        CD4+ release inflammatory inducing cytokines
        
        CD8+ cytotoxic cells kill target cells
- - - - Radiation
      - Replication errors
- - - - Epithelial growth factor receptor
    - - p53
      - RB
  - - - Radiation
      - Chemical exposure
      - Infection