MAS Bio82 slides Part 4.pdf

MAS Bio82 slides Part 4.pdf - Association Studies...

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Association Studies
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Recombination mixes allele combinations over time Human Molecular Genetics
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Association Studies take advantage of linkage disequilibrium
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modified from Bioinformatics (2005) 21 (24): 4384-4393 The rationale behind association mapping of a monogenic trait (Each present in many individuals)
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modified from Bioinformatics (2005) 21 (24): 4384-4393 The rationale behind association mapping of a monogenic trait (Each present in many individuals) (a new mutation occurs in one individual)
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modified from Bioinformatics (2005) 21 (24): 4384-4393 The rationale behind association mapping of a monogenic trait (Each present in many individuals) (a new mutation occurs in one individual) Result: Enrichment of the “green alleles” for markers close to the disease-causing mutation
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The rationale behind association mapping of a monogenic trait Bioinformatics (2005) 21 (24): 4384-4393. This same rationale can be used for complex traits, but we should expect the degree of association to be much more subtle. This is because the mutation (variant) only modifies the probability of displaying the trait.
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The path of an association study Step 1: Identify a carefully matched set of case (affected) and control (unaffected) patients. Step 2: Using SNP markers, analyze the genotype of each individual. Step 3: For each SNP marker, determine whether it is significantly enriched (or depleted) in the cases vs. the controls.
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GWAS studies look for statistically significant association of SNPs with a trait or disease Hartwell 5th ed, Fig21.16
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GWAS results are commonly displayed as a “Manhattan” Plots Hartwell 5th ed, Fig21.17
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The path of an association study Step 1: Identify a carefully matched set of case (affected) and control (unaffected) patients.
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