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Chapter 25

Genetics Analysis of
Complex Traits
Genetics: From Genes to
Genomes
EIGHTH EDITION
Goldberg, Fischer

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 Genetics Analysis of Complex Traits

Gandee Vasan/Getty Images

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 CHAPTER OUTLINE

25.1 Heritability: Genetic Versus Environmental Influences

on Complex Traits
25.2 Mapping Quantitative Trait Loci (QTLs)

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 Complex traits are influenced by many factors

• Multiple genes
• Allele interactions
• Variation in environment
• Interaction between alleles and environment

• Quantitative trait loci (QTLs) – specific genes that

contribute to complex traits

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 25.1 Heritability: Genetic versus environmental
influences on complex traits

Learning objectives:
• Clarify the meaning of phenotypic variance.
• Outline experiments that would allow you to distinguish genetic
and environmental influences on phenotypic variance.
• Explain the term heritability and why it applies to populations
and not to individuals.
• Describe how scientists estimate heritability in wild animal
populations by comparing parents and their progeny, or in
human populations by studying monozygotic and dizygotic
twins.
• Diagram how plant breeders use truncation selection to improve
agricultural crops.

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 Analyzing quantitative trait variation

• Quantitative traits measured over a range of numbers

called phenotypic values
• Many traits show normal distribution of phenotypic values
– human height

David Hyde/Wayne Falda/McGraw Hill

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 Genetic and environmental factors can produce normal
distributions of traits

• Genes and environment shape the continuous distribution

of traits
• Phenotypes of any one genotype are actually distributed in
narrower bell curves around average phenotype

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 Studies of dandelions can help sort out the effects of
genes versus the environment

Goal is to compare influence of genes and environment on

the length of the stem

(a): Eckart Pott/ OKAPIA/Science Source

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 Finding the mean and variance of stem length in
dandelions

Population of dandelions:
• Calculate total phenotype variance (Vp )

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 Measuring environmental variance (VE)

• Most dandelion seeds arise from mitotic divisions – all

seeds from a single plant are genetically identical
• Grow in a variable environment, such as a hillside

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 Calculating genetic variance (VG)

Keep environment constant by growing genetically different

seeds in a greenhouse

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 Determining total phenotypic variance

• Grow genetically diverse seeds on a hillside

• Total phenotype variance (VP ) = VG + VE

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 Heritability is the proportion of phenotypic variance due
to genetic variance

Heritability of a trait is the proportion of total phenotypic

variance (VP ) that is ascribable to genetic variation (VG ).

VA + VD + VI VG
Broad-sense H = 2
= (25.5)
VA + VD + VI + VE VP

Broad sense variability is measured only when comparing

identical twins to each other.

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 Comparisons of parents and offspring

• Only one allele at any given locus is shared

• Combinations of alleles at other loci also differ
• Comparisons of parents and offspring represent additive
variance (VA )

VA VA
Narrow-sense h =
2
= (25.6)
VA + VD + VI + VE VP

• Narrow sense heritability is the proportion of variation due

to variance of the additive genetic component
• Genetic relatedness—average fraction of common alleles
at all genetic loci shared by relatives

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 Measuring the heritability of bill depth in populations of
Darwin’s finches

• Geospiza fortis on Daphne Major in the Galápagos Islands

• Correlation between beak size of offspring and the average
of the parents’ beak sizes (slope of line is 0.82 = 82% due
to additive genetic variance)

(a): Ralph Lee Hopkins/Getty Images

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 Results if finch populations had no environmental or no
genetic effects

• If the environment had no effect, then heritability would be 1.0

• If there was no genetic contribution, then heritability would be 0

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 Heritability of polygenic traits in humans can be studied
using twins

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 Estimating heritability using MZ twins

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 Heritability estimates from twin studies

TABLE 25.1 Heritability Estimates from Twin Studies of Quantitative Traits

Trait Heritability*
Height 0.68–0.90
Body mass index 0.64–0.84
Birth weight 0.64–0.84
Brain frontal lobe volume 0.90–0.95
Exercise participation 0.48–0.71
Dietary patterns 0.41–0.48

*Heritability estimates are specific to a population at a particular time.

Concordance = frequency with which the other twin has the

trait in question when one of them does between twins

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 Concordance of a trait in two children raised in the same
family 1

If the heritability is 0.0, no differences would be observed between

monozygotic (MZ), dizygotic (DZ), or unrelated by adoption (UR)

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 Concordance of a trait in two children raised in the same
family 2

• If the heritability is 1.0, differences would be observed in

comparing monozygotic (MZ), dizygotic (DZ), or unrelated by
adoption (UR)
• The extent of difference varies with the trait commonality

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 Twin concordance for complex discrete traits

TABLE 25.2 MZ and DZ twin concordance for complex discrete traits

Concordance*
Trait MZ twins DZ twins
Type 1 diabetes 0.43 0.074
Type 2 diabetes 0.34 0.16
Schizophrenia 0.41 0.053
Autism spectrum 0.94 0.47
Alzheimer’s disease 0.32 0.087
Parkinson’s disease 0.16 0.11
Multiple sclerosis 0.25 0.054
Crohn’s disease 0.38 0.02
Colorectal cancer 0.11 0.05
Breast cancer 0.13 0.09
Prostate cancer 0.18 0.03
* Concordance values are specific to a population at a particular time.

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 Breeding programs & truncation selection

• Truncation selection – plants (or animals) with trait values

of a certain cutoff are used to produce the next generation

• Selection differential (S)—Difference between value for

this trait in the parents and value for this trait in the entire
population (breeding and non-breeding)

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