Genetics

Common Complex Traits

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Key Terms
These are the key terms and concepts covered in this lesson. After you have
learned a term, take a moment to write out your own explanation of the term.

Absolute risk

Causative variant

Cohort

Common complex traits

Conditional risk

False positive

Genetic architecture

Genome-wide association study

(GWAS)

Genetics
Common Complex Traits
Heritability

Manhattan plot

Mendelian variants

Missing heritability

Modifier

Odds ratio

Pleiotropy

Quantitative trait

Relative risk

Statistical significance

Variant effect size

Variant frequency

Genetics
Common Complex Traits
Concept Video Notes
Use the space below to jot down key points for each concept video. Attempt
to make connections between the concepts explained in these videos and
others already covered in the course. Are you unsure about any of the content?

Architecture of a Genetic Trait

Heritability

Genome-wide Association Studies

Complex Traits and Missing Heritability

Determining Risk in Complex Traits

Genetics
Common Complex Traits
Learning Objectives
After you have completed the lesson, go through the learning objectives again.
Are you able to fill in a complete response to each learning objective?

1) Compare and contrast the genetic architecture of Mendelian and common complex traits.

2) Define heritability and explain why it cannot be applied to an individual.

3) Name an approach that can be used to measure the heritability of a trait.

4) Describe how a genome-wide association study (GWAS) allows unbiased identification of disease-associated SNPs.

5) Identify disease-associated SNPs based on a Manhattan plot.

6) Explain how the size and composition of cohorts can change the number of variants identified in a GWAS or lead to
misidentification of causal variants.

Genetics
Common Complex Traits
7) Define missing heritability and name three factors that may contribute to it.

8) Apply the concept of conditional risk to explain how an individual’s risk is estimated based upon the risk of a subpopulation of
similar individuals.

9) Describe the relationship between baseline, relative, and absolute risk and identify which best reflects disease risk in
an individual.

Genetics
Common Complex Traits
Summary Figures
1) On the graph below, add scales to both axes and indicate where the following types of
variants fall.

Mendelian variants
Common complex variants
Intermediate variants
Rare, small effect variants
Common, large effect variants

Genetics
Common Complex Traits
2) Draw one example of the genetic architecture of the following types of traits.

Trait Architecture

Simple Mendelian Gene Trait

Mendelian with modifier

Pleiotropic Mendelian

Complex

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Genetics
Common Complex Traits