Lecture 11: Personality & Genetics - Quantitative

The Jim Twins

  • The central message from behavioural genetics involves genetic individuality.
  • Each individual, except identical twins, is a unique genetic experiment.
  • Jim Springer and Jim Lewis were identical twins separated four weeks after birth and reunited at age 39.
  • They attracted media attention due to extraordinary coincidences in their lives, including:
    • Both named "Jim" by adoptive parents.
    • Each weighed 180 pounds and was 6 feet tall.
    • Both had a pet terrier named "Toy" in childhood.
    • Shared interests in mechanical drawing and carpentry.
    • Both had police training and worked part-time in law enforcement.
    • Both married and divorced women named "Linda," then remarried women named "Betty."
    • Both enjoyed leaving love notes for their wives.
    • One named his firstborn son "James Alan," the other "James Allan."
    • Both chain-smoked Salem cigarettes, chewed their fingernails, and liked Miller Lite beer.
    • Both had high blood pressure, experienced what they thought were heart attacks, and underwent vasectomies.
    • Both started having tension headaches at 18 and gained ten pounds simultaneously.
    • Both took family vacations on the same beach in the Florida Gulf Coast.
    • Both drove the same model light blue Chevrolet.
  • Dr. Thomas Bouchard administered psychometric tests to the Jim twins.
    • Personality test scores (tolerance, conformity, flexibility) were nearly identical.
    • Intelligence test scores were very similar.
  • The Jim twins were the first participants in the Minnesota Study of Twins Reared Apart (MISTRA).
  • The Jim Twins are a case study, with limitations.
    • Confirmatory bias: similarities can be found even in randomly selected individuals if you look hard enough.
    • Compared to other MISTRA twins, the level of coincidences in the lives of the Jims remained remarkable.
  • Genes do not code a preference for marrying women named “Betty.”
  • The case of the Jim twins highlights the role of genetics in shaping personality.

Lecture Outline

  • Basic concepts in behavioral genetics.
  • Quantitative genetics
    • Estimating heritability
      • Twin studies
      • Limitations
      • Adoption studies (separated twins)
      • Limitations
    • Estimating environmental influence
      • Genes and environments
    • Molecular Genetics
      • Allelic Association Method
      • Selected findings

Basic Concepts

  • Genes are small parts of a long molecule called DNA (Deoxyribonucleic Acid).
  • The double helix of DNA consists of:
    • Deoxyribose (a sugar).
    • A phosphate group.
    • Bases: Adenine, Thymine, Cytosine, Guanine.
  • The specific pairing of bases allows DNA to:
    • Replicate itself.
    • Direct the synthesis of proteins.
  • Replication of DNA occurs during cell division.
    • The DNA molecule unzips, separating paired bases.
    • Each strand attracts appropriate bases to construct its complement.
    • Two identical double helices of DNA are created.
  • Humans begin as a single cell that reproduces DNA in trillions of cells.
  • Approximately 50 trillion cells make up the human body.
  • DNA directs the synthesis of proteins.
    • Base sequences are a code for the cell to make sequences of amino acids.
    • Amino acids make up the thousands of proteins in living organisms.
  • A gene is a length of base sequence that codes for one protein chain.
  • Gene regulators turn specific genes on or off in different cells to control protein synthesis.
  • The long molecules of DNA containing genes are organized into chromosomes.
  • Humans usually have 46 chromosomes (two sets of 23).
  • An entire set of chromosomes is called a genome.
    • The human genome is composed of about 3.3 billion base pairs.
    • These base pairs contain about 25,000 protein-coding genes.
    • Gene size ranges from about 1,000 bases to 2 million bases.
  • New DNA differences occur when mistakes (mutations) are made in copying the DNA.
  • A single-base mutation results when a base pair is left out, added, or substituted.
    • This leads to a change in the protein a gene produces.
  • Alternative forms of a gene are called alleles.
    • Alleles differ by one or more bases but occupy the same location on the chromosome.
  • New mutations in egg or sperm cells (gametes) can be passed on to the next generation.
  • These alleles become the genetic basis for different characteristics.
  • Genotype: an individual’s unique combination of alleles.
  • Phenotype: an observed characteristic resulting from the interaction between genotype and the environment, including personality traits.
    • This interaction begins in the womb and continues throughout life).

Quantitative Genetics

  • Research goals:
    1. Estimating the heritability of quantitative traits.
    2. Estimating the influence of shared and non-shared environment on quantitative traits.
  • Heritability: the proportion of the total variance in the phenotype due to variance in the genotype.
    • Heritability is a population statistic.
    • Heritability estimates are NOT constant or immutable.
    • Heritability estimates CANNOT be applied to a single individual.
  • Behavioral geneticists try to determine the relative influence of shared and non-shared environmental factors.
  • Shared factors: environmental factors experienced the same by siblings growing up in the same family.
    • Physical (e.g., number of books, video games).
    • Psychological (e.g., parenting practices, sibling interactions).
    • Social variables (e.g., SES, urban or rural setting, religion).
  • Non-shared factors: environmental factors experienced differently by siblings growing up in the same family.
    • Differential treatment from parents.
    • Different teachers, friends, hobbies.
    • Different life events (accident or illness).

Estimating Heritability

  • Two main methods:
    • Twin studies.
    • Adoption studies.

Twin Studies

  • If genetic factors affect a quantitative trait, phenotypic resemblance should be greater in identical twins than fraternal twins.
    • Identical twins (monozygotic or MZ) share 100% of their genes.
    • Fraternal twins (dizygotic or DZ) share approximately 50% of their genes.
  • A rough estimate of heritability can be obtained as follows: h2=2(r<em>mzr</em>dz)h^2 = 2 (r<em>{mz} – r</em>{dz})
    • MZ twins share 100% of variable genes, DZ twins roughly 50%.
    • The difference in their correlations reflects half of the genetic effect and is doubled to estimate heritability.
  • Example: Loehlin & Nichols (1976) administered a Dominance Scale to twins:
    • rmz=+.57r_{mz} = +.57
    • rdz=+.12r_{dz} = +.12
    • 2(.57.12)=.902(.57-.12) = .90
  • The variance not explained by genetics is attributed to the environment and measurement error.
  • Less reliable scales produce lower heritability estimates.
  • Results for adolescent or adult twins tested using questionnaire or other self-report methods (Zuckerman, 2005).
Extraversion
  • Eaves et al. 1989 (36 studies before 1976, EPI): r<em>mz=.53r<em>{mz} = .53, r</em>dz=.24r</em>{dz} = .24, h2=.58h^2 = .58
  • Zuckerman 1991 (7 studies 1976-1988, Various countries, ages): r<em>mz=.54r<em>{mz} = .54, r</em>dz=.19r</em>{dz} = .19, h2=.54h^2 = .54
Neuroticism
  • Eaves et al. 1989 (22 studies before 1976, EPI): r<em>mz=.44r<em>{mz} = .44, r</em>dz=.22r</em>{dz} = .22, h2=.44h^2 = .44
  • Zuckerman 1991 (7 studies 1976-1988, Various countries, ages): r<em>mz=.46r<em>{mz} = .46, r</em>dz=.22r</em>{dz} = .22, h2=.46h^2 = .46

Limitations of Twin Studies

  • Twin studies compare identical (MZ) and same-sex fraternal (DZ) twins to control for environmental factors.
  • Both types of twins share broad environmental features.
  • The twin method assumes that environments experienced by identical twins are no more similar than those experienced by fraternal twins (equal environments assumption).
  • If MZ twins are more alike than DZ twins, the higher concordance is attributed to their higher genetic overlap.
  • However, the equal environments assumption may be violated:
    • Equal prenatal environments? Roughly three-quarters of MZ twins share a common placenta and chorionic sac (monochorionic), whereas DZ twins are always dichorionic.
      • These "maternal" effects may contribute to greater personality concordance in MZ twins.
    • Equal postnatal environments? Parents may treat identical twins more similarly than fraternal twins because they look more alike.
      • The postnatal equal environments assumption appears reasonable for most traits.
      • MZ twins don’t seem to resemble each other more in terms of personality if they were treated alike.
      • MZ twins believed to be DZ are just as concordant as correctly classified MZ twins for personality traits.

Adoption Studies

  • Adoption studies are the most direct way to disentangle genetic and environmental sources of family resemblance.
  • Adoption creates pairs of genetically related individuals who do not share a common family environment.
  • Types of adoption studies:
    • Non-twin adoption studies (e.g., biological parents and their adopted-away offspring; siblings who have been adopted apart).
    • Separated twin studies (MZ or DZ twins adopted apart).
    • Studies of identical twins raised apart (MZ-A) without any contact during their formative years are most powerful.
      • The correlation on a trait between sets of separated identical twins is a direct estimate of heritability, where h2=rMZAh^2 = r_{MZ-A}.

Adoption Studies: Results of Adult Monozygotic Twins Raised Apart (MZ-A) (Zuckerman, 2005)

Correlations on Extraversion - Twins Raised Apart
  • Shields 1962/MPI (UK): rMZA=.61r_{MZ-A} = .61
  • Pederson et al. 1988/EPI Short form (Sweden): rMZA=.30r_{MZ-A} = .30
  • Langinvainio et al. 1984/EPI Short form (Finland): rMZA=.38r_{MZ-A} = .38
  • Bouchard 1993/MPQ (USA): rMZA=.40r_{MZ-A} = .40
  • Bouchard 1993/CPI (USA): rMZA=.60r_{MZ-A} = .60
  • Bouchard & Hur 1998/MBTI (USA): rMZA=.60r_{MZ-A} = .60
Correlations on Neuroticism - Twins Raised Apart
  • Shields 1962/MPI (UK): rMZA=.53r_{MZ-A} = .53
  • Pederson et al. 1988/EPI Short form (Sweden): rMZA=.25r_{MZ-A} = .25
  • Langinvainio et al. 1984/EPI Short form (Finland): rMZA=.25r_{MZ-A} = .25
  • Bouchard 1993/MPQ (USA): rMZA=.53r_{MZ-A} = .53
  • Bouchard 1993/CPI (USA): rMZA=.55r_{MZ-A} = .55

Limitations of Adoption Studies

  • Selective placement: foster homes may be more similar to each other than the environments encountered in families at large.
  • If foster families are more homogenous, heritability estimates based on adoption studies will underestimate the effect of family environment.

Concluding Comments

  • Genetic research on personality has focused primarily on extraversion and neuroticism.
  • Estimates of the heritability of these two dimensions differ from study to study due to variations in:
    • Age of participants.
    • Tests used.
    • Test reliabilities.
    • Countries in which studies were conducted.
  • Advanced model-fitting analyses across twin and adoption designs produce heritability estimates of:
    • About 50% for extraversion.
    • About 40% for neuroticism.
  • These genetic effect sizes are amongst the largest effect sizes found anywhere in the behavioral sciences!
  • Heritability estimates:
    • Openness to experience: 45%.
    • Conscientiousness: 38%.
    • Agreeableness: 35%.
    • One study (Bergeman et al, 1993) found a much lower heritability estimate for Agreeableness (12%).
  • Despite its name, behavioral genetics is as useful in the study of environment as it is in the study of genetics.
  • Genetic research provides the best available evidence yet for the importance of the environment.
  • Heritability estimates rarely exceed 50%, so the environmental influence is rarely less than 50%.