06B.07A · Génétique humaine — session 7

Human genetics — session 7

SMB1 De la molécule à la cellule Génétique et génomique humaine · 40 pages

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Course Overview

1Course Overview

Slide Icons Legend

2Slide Icons Legend

Interactive Tool Access

3Interactive Tool Access

Complex Traits Intro

4Complex Traits Intro

Session Outline

5Session Outline

Common Quantitative Traits

6Trait Types Overview 7Discontinuous Qualitative Traits 8Continuous Quantitative Traits 9Discontinuous: Non-Gaussian Distribution 10Gaussian vs Non-Gaussian Distribution 11Environment & Trait Modification 12Environmental Factors 13Genetic vs Environmental Spectrum 14Multifactorial Determinism

Height as Complex Trait

15Clinical Q: Height Prediction 16Height Trends by Population 17Height Population Distribution 18Environment & Height 19Height Prediction: Answer 20Tanner Formula (1970)

Heritability & Twin Studies

21Twin Study Design 22MZ Twin Height Correlation (r = 0.95)23DZ Twin Height Correlation (r = 0.52)24Genetic + Environmental Contributions 25Heritability h² Concept 26Falconer's Formula h² = 2(rMZ − rDZ)27h² Interpretation & Variability

Polygenic Model

28One Gene for Height?29Composite Phenotype 30One-Gene Model Fails 31GIANT: Many Small-Effect Variants 32Polygenic + Environment Summary

Multifactorial Diseases

34Transmission Mode (AR / AD / Neither?)35Relative Risk Formula 36RR in First-Degree Relatives

37Familial Risk Gradient

Transmission Model

38Additive Polygenic Model

39Monogenic vs Multifactorial Comparison

Session Objectives

40Session Objectives

06B.07APage 1Course Overview

Génétique humaine — session 7 page 1

06B.07APage 2Slide Icons Legend

Génétique humaine — session 7 page 2

06B.07APage 3Interactive Tool Access

Génétique humaine — session 7 page 3

06B.07APage 4Complex Traits Intro

Génétique humaine — session 7 page 4

06B.07APage 5Session Outline

Génétique humaine — session 7 page 5

06B.07APage 6Common Quantitative TraitsTrait Types Overview

Génétique humaine — session 7 page 6

06B.07APage 7Common Quantitative TraitsDiscontinuous Qualitative Traits

Génétique humaine — session 7 page 7

06B.07APage 8Common Quantitative TraitsContinuous Quantitative Traits

Génétique humaine — session 7 page 8

06B.07APage 9Common Quantitative TraitsDiscontinuous: Non-Gaussian Distribution

Génétique humaine — session 7 page 9

06B.07APage 10Common Quantitative TraitsGaussian vs Non-Gaussian Distribution

Génétique humaine — session 7 page 10

06B.07APage 11Common Quantitative TraitsEnvironment & Trait Modification

Génétique humaine — session 7 page 11

06B.07APage 12Common Quantitative TraitsEnvironmental Factors

Génétique humaine — session 7 page 12

06B.07APage 13Common Quantitative TraitsGenetic vs Environmental Spectrum

Génétique humaine — session 7 page 13

06B.07APage 14Common Quantitative TraitsMultifactorial Determinism

Génétique humaine — session 7 page 14

06B.07APage 15Common Quantitative TraitsHeight as Complex TraitClinical Q: Height Prediction

Génétique humaine — session 7 page 15

06B.07APage 16Common Quantitative TraitsHeight as Complex TraitHeight Trends by Population

Génétique humaine — session 7 page 16

06B.07APage 17Common Quantitative TraitsHeight as Complex TraitHeight Population Distribution

Génétique humaine — session 7 page 17

06B.07APage 18Common Quantitative TraitsHeight as Complex TraitEnvironment & Height

Génétique humaine — session 7 page 18

06B.07APage 19Common Quantitative TraitsHeight as Complex TraitHeight Prediction: Answer

Génétique humaine — session 7 page 19

06B.07APage 20Common Quantitative TraitsHeight as Complex TraitTanner Formula (1970)

Génétique humaine — session 7 page 20

06B.07APage 21Common Quantitative TraitsHeritability & Twin StudiesTwin Study Design

Génétique humaine — session 7 page 21

06B.07APage 22Common Quantitative TraitsHeritability & Twin StudiesMZ Twin Height Correlation (r = 0.95)

Génétique humaine — session 7 page 22

06B.07APage 23Common Quantitative TraitsHeritability & Twin StudiesDZ Twin Height Correlation (r = 0.52)

Génétique humaine — session 7 page 23

06B.07APage 24Common Quantitative TraitsHeritability & Twin StudiesGenetic + Environmental Contributions

Génétique humaine — session 7 page 24

06B.07APage 25Common Quantitative TraitsHeritability & Twin StudiesHeritability h² Concept

Génétique humaine — session 7 page 25

06B.07APage 26Common Quantitative TraitsHeritability & Twin StudiesFalconer's Formula h² = 2(rMZ − rDZ)

Génétique humaine — session 7 page 26

06B.07APage 27Common Quantitative TraitsHeritability & Twin Studiesh² Interpretation & Variability

Génétique humaine — session 7 page 27

06B.07APage 28Common Quantitative TraitsPolygenic ModelOne Gene for Height?

Génétique humaine — session 7 page 28

06B.07APage 29Common Quantitative TraitsPolygenic ModelComposite Phenotype

Génétique humaine — session 7 page 29

06B.07APage 30Common Quantitative TraitsPolygenic ModelOne-Gene Model Fails

Génétique humaine — session 7 page 30

06B.07APage 31Common Quantitative TraitsPolygenic ModelGIANT: Many Small-Effect Variants

Génétique humaine — session 7 page 31

06B.07APage 32Common Quantitative TraitsPolygenic ModelPolygenic + Environment Summary

Génétique humaine — session 7 page 32

06B.07APage 33Multifactorial DiseasesDefinition

Génétique humaine — session 7 page 33

06B.07APage 34Multifactorial DiseasesAsthmaTransmission Mode (AR / AD / Neither?)

Génétique humaine — session 7 page 34

06B.07APage 35Multifactorial DiseasesAsthmaRelative Risk Formula

Génétique humaine — session 7 page 35

06B.07APage 36Multifactorial DiseasesAsthmaRR in First-Degree Relatives

Génétique humaine — session 7 page 36

06B.07APage 37Multifactorial DiseasesSchizophreniaFamilial Risk Gradient

Génétique humaine — session 7 page 37

06B.07APage 38Multifactorial DiseasesTransmission ModelAdditive Polygenic Model

Génétique humaine — session 7 page 38

06B.07APage 39Multifactorial DiseasesMonogenic vs Multifactorial Comparison

Génétique humaine — session 7 page 39

06B.07APage 40Session Objectives

Génétique humaine — session 7 page 40