复旦大学医学遗传学课件casecontrolTDT分析
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alleles/genotypes and disease – Designs to be used
Learning Objectives for This Lecture
• Applications for genetic association analyses • Direct versus indirect association • Indirect association: marker-based disease
2. ‘LD Mapping’ (indirect method) – ‘exposure status’ not directly measured – Rely on markers correlated with true exposure status • This correlation is due to linkage disequilibrium
APOE gene on c19
..GACTAAGGCCC CCGTTCAAGGAA.. C/T
• Genotype that particular site for association study
Genetic epidemiology studies – two different concepts
association – Exploits LD between markers and unobserved
disease variants • Examples of direct and indirect association studies • Study designs for direct and marker-based (LD)
Eg: Genotype a nearby genetic marker among study participants
APOE gene on c19
..GACTAAGGCCC CCGTTCAAG…GA CCTG..
C/T
A/G
Rely on correlation (LD) between these alleles to detect association!
• Assessing risk for disease due to specific alleles/genotypes
– Contrast direct / indirect genetic association studies
– Discuss genetic models – Tests and estimates of association between
1. Direct method – Testing whether a particular allele is a disease predisposing (causative) allele – ‘exposure status’ directly measured
Eg: A particular APOE allele (e4) changes protein isoform
Case a c e nd
Control b d f nh
Total m1 m2 m3 N
• Directly measure potentially predisposing alleles
Indirect Tests
• Test for association between marker genotypes and disease outcome
case-control) • Case-family (trios, sibs, extended families) • Case-only
Learning Objectives for This Lecture
✓ Applications for association analyses • Direct versus indirect association • Indirect association: marker-based association
Fudan Genetic Workshop 2005 Genetic Epidemபைடு நூலகம்ology in Populations
Genetic Association Studies: Studies with Unrelated Individuals
Yin Yao
yyao@jhsph.edu
Fudan Genetic Workshop, Jan 04 2005
Direct Tests
• Test for association between observed genotypes and disease outcome
…CCCCCG … …CCCCCG …
…CCCCCG … …CCTCCG …
…CCTCCG … …CCTCCG …
CC CT TT Total
Genetic Association Studies in Epidemiology
Common Designs:
• Cross-sectional • Case-control • Cohort • Clinical Trial (drug response hypothesis is really a
– Exploits LD • Examples of direct and indirect association studies • Study designs for direct and marker-based (LD)
association
Genetic epidemiology studies – two different concepts
association
Genetic Association Studies in Epidemiology
Applications:
• Fine mapping • Candidate gene effects • Whole genome scan • Gene – environment effects • Drug response modification
Learning Objectives for This Lecture
• Applications for genetic association analyses • Direct versus indirect association • Indirect association: marker-based disease
2. ‘LD Mapping’ (indirect method) – ‘exposure status’ not directly measured – Rely on markers correlated with true exposure status • This correlation is due to linkage disequilibrium
APOE gene on c19
..GACTAAGGCCC CCGTTCAAGGAA.. C/T
• Genotype that particular site for association study
Genetic epidemiology studies – two different concepts
association – Exploits LD between markers and unobserved
disease variants • Examples of direct and indirect association studies • Study designs for direct and marker-based (LD)
Eg: Genotype a nearby genetic marker among study participants
APOE gene on c19
..GACTAAGGCCC CCGTTCAAG…GA CCTG..
C/T
A/G
Rely on correlation (LD) between these alleles to detect association!
• Assessing risk for disease due to specific alleles/genotypes
– Contrast direct / indirect genetic association studies
– Discuss genetic models – Tests and estimates of association between
1. Direct method – Testing whether a particular allele is a disease predisposing (causative) allele – ‘exposure status’ directly measured
Eg: A particular APOE allele (e4) changes protein isoform
Case a c e nd
Control b d f nh
Total m1 m2 m3 N
• Directly measure potentially predisposing alleles
Indirect Tests
• Test for association between marker genotypes and disease outcome
case-control) • Case-family (trios, sibs, extended families) • Case-only
Learning Objectives for This Lecture
✓ Applications for association analyses • Direct versus indirect association • Indirect association: marker-based association
Fudan Genetic Workshop 2005 Genetic Epidemபைடு நூலகம்ology in Populations
Genetic Association Studies: Studies with Unrelated Individuals
Yin Yao
yyao@jhsph.edu
Fudan Genetic Workshop, Jan 04 2005
Direct Tests
• Test for association between observed genotypes and disease outcome
…CCCCCG … …CCCCCG …
…CCCCCG … …CCTCCG …
…CCTCCG … …CCTCCG …
CC CT TT Total
Genetic Association Studies in Epidemiology
Common Designs:
• Cross-sectional • Case-control • Cohort • Clinical Trial (drug response hypothesis is really a
– Exploits LD • Examples of direct and indirect association studies • Study designs for direct and marker-based (LD)
association
Genetic epidemiology studies – two different concepts
association
Genetic Association Studies in Epidemiology
Applications:
• Fine mapping • Candidate gene effects • Whole genome scan • Gene – environment effects • Drug response modification