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https://www.youtube.com/em
bed/kDkmSI39sWQ?start=9&e
nd=99 (9-1:39)
Why do we differ in height?
• We all differ in our genetic alleles.
• We all differ in our environments.
– Environments created by our parents
– Random walk through life
• >80% of height variation is due to
genetic differences among us.
• How do we know this?
Measuring familial resemblance
• Correlation (r)
measures similarity
between two variables.
• Knowing one member
of a twin pair’s score
tells you about the
other member’s score.
• r ranges from -1 to +1.
• Galton (1888) and
Karl Pearson (1857-1936)
Pearson (1896)
developed it.
Scatter Plots of Data with Various
Correlation Coefficients Slide from: Statistics for Managers
Using Microsoft® Excel 4th Edition,
Y Y Y 2004 Prentice-Hall
X X X
r = -1 r = -.6 r=0
Y
Y Y
X X X
r = +1 r = +.3 r=0
How do we calculate r?
cov( x, y )
You don’t need to memorize these equations. rxy =
sx s y
n
( x − x)( y − y)
i i
cov( x, y ) = i =1
n −1
Pearson and Lee’s diagram for measurement of “span” (finger-tip to finger-tip distance)
From Pearson and Lee (1903), p.378
From Pearson and Lee (1903), p.378
From Pearson and Lee (1903), p. 373
Can we conclude from relatives that
stature is inherited?
• Each parent gives each child
– half of its genetic material
– a rearing environment
• Siblings share on average
– half of their genetic material
– similar rearing environments
Ronald Fisher (1890-1962)
0.4
0.4
0.3
0.3
0.2
0.2
0.1 0.1
0.0
0.0
-2.5 -1.5 -0.5 0.5 1.5 2.5 3.5 4.5 5.5 6.5
0 1 2 3 4 5
S1
Y1
c. Continuous distribution of polygenic trait
(100 genes with small cumulative effects)
0.06
0.04
0.02
0.00
75 79 83 87 91 95 99 103 107 111 115 119 123
Y1
Fisher (1918): basic ideas
• Continuous variation caused by lots of genes
(“polygenic inheritance”)
• Each gene follows Mendel’s laws.
• Environment smooths out genetic differences.
• Genes may show different degrees of “dominance”.
• Showed that correlations obtained by, e.g., Pearson
and Lee, were explained well by polygenic
inheritance.
Differences between Mendel and Galton
Mendel Galton
• Discrete traits • Continuous traits
• Tall vs. short plants • Height measured continuously
• Single gene having large, • Multiple genes, each having
qualitative effect very small effects on the trait
Multifactorial model of complex
disease or quantitative traits
G1 G2 G3 G4 Quantitative Trait
0.09
0.08
0.07
Y
0.06
0.05
0.04
0.03
0.02
0.01
0
0 10 20 30 40 50 60 70 80 90 100
E1 E2 E3 E4 T
Liability-Threshold Model
Partitioning variance
Unique Shared Additive Dominant
Environment Environment Genetic effects Genetic effects
E C A D
c a
e d
Phenotype
P = eE + aA + cC + dD
(plus other effects)
Twin Studies
• Comparing identical (monozygotic; MZ) with
fraternal (dizygotic; DZ) twin pairs
• MZ twins are genetically identical
• DZ twins share half their genetic material
• MZ and DZ twin pairs share environment
Compare correlations
in MZ and DZ twins
Height measured in female twin pairs
180
180
170
170
160
stature twin 2
stature twin 2
160
150
150 140
150 160 170 180 190 140 150 160 170 180 190 200
ACE model for pairs of people
1
MZ=1.0; DZ/sib=0.5
E C A A C E
e c a a c e
PT1 PT2
Calculating heritability
• rMZ = a2 + c2
• rDZ = ½ a2 + c2
• h2 =
Back to height
• rMZ = .92
• rDZ = .52
• h2 = 2 (rMZ – rDZ)
Back to height
• rMZ = .92
• rDZ = .52
• rMZ = a2
• rDZ = ½ a2
• Resemblance between
pairs of twins reared
apart is due only to
genetic sharing.
Conclusions from adoption and twins
reared apart studies
• What is intelligence?
https://www.youtube.com/embed/9xTz3QjcloI?start=1&end=699 (11:39)
• Is intelligence inherited?
Heritability of intelligence
• A = apart. T = together.
• What do you notice about MZA vs. MZT?
• What do you notice about DZA vs. DZT?
• Estimate heritability.
• You don’t need to memorize the numbers in this and subsequent slides.
Genetic variants for IQ
• GWAS: genome-wide association studies
– Purpose: Find genotypes that cause a phenotype
– Phenotype: IQ
– Genotypes: many SNPs
• SNP: single-nucleotide polymorphism
• Hundreds of thousands, using 1 chip/person
• DNA from blood
– Need to examine many unrelated individuals. Why?
• Association is weak.
• Small differences in probability appear with many tests.
Genetic variants for IQ
• A recent GWAS for IQ
– Published July 2018
– ~1/4 million people
– Found ~200 places in the genome associated w/IQ
Genetic variants for IQ
• Each dot is a SNP.
“Manhattan plot” • X-axis is position along chromosomes.
• Y-axis is strength of association with IQ.
Genetic variants for IQ
• Where are the
associated
genes
expressed?
• Mostly in brain
Genetic variants for IQ
• A recent GWAS for IQ
– Genome-wide polygenic score (GPS)
• Combine the SNPs into an equation to predict IQ
• Explains ~5% of variance in IQ
– Why does polygenic score explain so little?
• Need more people to detect tiny associations.
• Genetic variants other than SNPs affect IQ.
• Heredity only affects some (~2/3-3/4) of variance in IQ.
Intelligence is highly heritable
60%
40%
20%
0%
Completed High School Employed at Age 40 Earned >$20K at Age 40 Arrested 5+ Times
90
80
70
Total Low SES Middle SES High SES
Adoptive Home SES
Does family affect soft skills?
Look at college attendance, which soft skills may
affect.
Likelihood of College Attendance
• How can you separate the
effects of nature and nurture?
• Effect of environment
(US$/yr)
– No heredity in adopted kids
– Compare among incomes
• Effect of heredity
– Nature + nurture in biological
kids
– Subtract effect of environment
Is higher IQ always better?
IQ is a bell curve, so people at extremes may
have trouble understanding and being
understood by most people.
https://www.t3x.org/iq/window.html
Conclusions from
behavior genetics research
• 3 laws of behavior genetics (Turkheimer, 2000)
1. First Law: All human behavioral traits are
heritable. (~50%)
2. Second Law: The effect of being raised in the
same family is smaller than the effect of the
genes. (~0%)
3. Third Law: A substantial portion of the
variation in complex human behavioral traits
is not accounted for by the effects of genes
or families. (~50%)
Eric Turkheimer
Why do we care?
• Unless a genetically-informative study is • Parents get endless
conducted, we can’t separate parenting parenting advice and thus
often feel guilty if they
effects from genetic transmission.
don’t do everything
• Thus, much research on parenting and possible for their kids,
personality is useless. believing that they are
affecting the kids’ future.
• Parenting has minimal effect on personality.
– But they won’t affect
– Biological parent/adoptive offspring personality. Relax!
correlations: ~0. – Though parenting may
– Shared environmental effects: ~0. affect soft skills.
The End