Lecture 11: Personality & Genetics: Quantitative

The Jim Twins

  • Jim Springer and Jim Lewis, identical twins separated four weeks after birth, reunited at age 39, sharing striking coincidences.
    • Both named "Jim" by adoptive parents.
    • Shared similar physical characteristics: weight of 180 pounds, 6 feet tall.
    • Shared interests: mechanical drawing and carpentry.
    • Both had police training and worked part-time with law enforcement.
    • Marital similarities: Divorced women named Linda, remarried women named Betty.
    • Love notes to wives, similar names for firstborn sons (James Alan/Allan).
    • Shared habits: chain-smoking Salem cigarettes, nail-biting, liking Miller Lite beer.
    • Similar health issues: high blood pressure, perceived heart attacks, vasectomies, tension headaches starting at eighteen, and weight gain.
    • Vacationed on the same beach in Florida and drove the same model light blue Chevrolet.
  • Dr. Thomas Bouchard administered psychometric tests revealing similar personality scores (tolerance, conformity, flexibility) and intelligence test scores.
  • The Jim twins were the first participants in the Minnesota Study of Twins Reared Apart (MISTRA).

Limitations of the Jim Twins Case Study

  • Case studies may be subject to confirmatory bias, where similarities can be found even in randomly selected individuals if one looks hard enough.
  • Despite limitations, coincidences in the Jim twins' lives remained remarkable compared to other MISTRA twins.
  • Genes do not code for specific preferences like marrying someone named "Betty."
  • The case highlights the question of genetics' role in shaping personality.

Basic Concepts in Behavioural Genetics

  • Genes are small parts of DNA (Deoxyribonucleic Acid).
  • DNA's double helix consists of deoxyribose (a sugar), a phosphate group, and a base.
    • Four types of base: Adenine, Thymine, Cytosine, Guanine.
  • Specific base pairing allows DNA to replicate and direct protein synthesis.
    • DNA replication occurs during cell division, creating two identical DNA double helices.
    • Humans begin as a single cell replicating DNA into trillions of cells.
    • Approximately 50 trillion cells make up the human body.
  • DNA directs protein synthesis, with base sequences coding for amino acid sequences.
    • A gene is a base sequence coding for one protein chain.
    • Examples of Amino Acid & DNA Code: Alanine (CGA, CGG, CGT, CGC), Glutamine (GTT, GTC), Phenylalanine (AAA, AAG)
    • Gene regulators control protein synthesis by turning genes on or off in different cells.
  • DNA containing genes is organized into chromosomes.
    • Humans usually have 46 chromosomes (two sets of 23).
    • A genome is an entire set of chromosomes; the human genome has about 3.3 billion base pairs.
    • These base pairs contain about 25,000 protein-coding genes, ranging in size from about 1000 bases to 2 million bases.
  • New DNA differences arise from mutations during DNA copying.
    • Single-base mutations: a base pair is left out, added, or substituted, changing the protein a gene produces.
    • Alternative forms of a gene are called alleles, differing by one or more bases but occupying the same locus on the chromosome.
    • Mutations in egg or sperm cells (gametes) can be passed to the next generation, leading to different characteristics.
  • Genotype: an individual's unique combination of alleles.
  • Phenotype: an observed characteristic resulting from the interaction between genotype and environment.
    • Phenotypes include Huntington's disease, height, weight, or personality traits.

Quantitative Genetics goals

  • Estimating the heritability of quantitative traits.
  • Estimating the influence of shared and non-shared environment on quantitative traits
Goal 1: Heritability
  • Heritability can be defined as the proportion of the total variance in the phenotype which is due to variance in the genotype.
  • Heritability is a population statistic, meaning:
    • Heritability estimates are not constant or immutable.
    • Heritability estimates cannot be applied to a single individual.
Goal 2: Environmental Influence
  • Shared factors: environmental factors experienced the same by siblings in the same family.
    • Examples: number of books in the home, some parenting practices, SES, religion.
  • Non-shared factors: environmental factors experienced differently by siblings in the same family.
    • Examples: differential treatment from parents, different teachers, friends, hobbies, life events.

Estimating Heritability

  • Twin studies
  • Adoption studies
Twin Studies
  • If genetic factors affect a quantitative trait, phenotypic resemblance of identical twins should be greater 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 in the following manner: 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% of variable genes – the difference in their correlations then reflects half of the genetic effect and is doubled to estimate heritability:
    • Example: Loehlin & Nichols (1976) administered a Dominance Scale to twins r<em>mz=+.57r<em>{mz} = +.57 r</em>dz=+.12r</em>{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
    • Neuroticism
    • Adolescent or Adult Twins: Correlations and Heritabilities (h2h^2) on Extraversion
      • Study: Eaves et al. 1989
        • Population: 36 studies before 1976
        • Test/Subjects: EPI
        • rmz{r_{mz}}: .53
        • rdz{r_{dz}}: .24
        • h2h^2: .58
      • Study: Zuckerman 1991
        • Population: 7 studies 1976-1988
        • Test/Subjects: Various countries, ages
        • rmz{r_{mz}}: .54
        • rdz{r_{dz}}: .19
        • h2h^2: .54
    • Adolescent or Adult Twins: Correlations and Heritabilities (h2h^2) on Neuroticism
      • Study: Eaves et al. 1989
        • Population: 22 studies before 1976
        • Test/Subjects: EPI
        • rmz{r_{mz}}: .44
        • rdz{r_{dz}}: .22
        • h2h^2: .44
      • Study: Zuckerman 1991
        • Population: 7 studies 1976-1988
        • Test/Subjects: Various countries, ages
        • rmz{r_{mz}}: .46
        • rdz{r_{dz}}: .22
        • h2h^2: .46
Limitations of Twin Studies
  • Twin studies compare identical (MZ) and same-sex fraternal (DZ) twins to control for environmental factors.
  • The twin method assumes that environments experienced by identical twins are no more similar than those of fraternal twins (equal environments assumption).
  • If MZ twins are more alike than DZ twins, the higher concordance is attributed to their higher genetic overlap.
  • The equal environments assumption may be violated in two ways:
    • Equal prenatal environments?
      • Roughly three-quarters of MZ twins share a common placenta and chorionic sac (monochorionic), while DZ twins are always dichorionic
      • Maternal effects may contribute to greater personality concordance in MZ twins.
    • Equal postnatal environments?
      • Parents may treat identical twins more similarly 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 personality if treated alike.
      • MZ twins believed to be DZ are as concordant as correctly classified MZ twins for personality traits.
Adoption Studies
  • Adoption studies 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 (biological parents and adopted-away offspring; siblings adopted apart).
    • Separated twin studies (MZ or DZ twins adopted apart).
    • Studies of identical twins raised apart (MZ-A) without contact during formative years are most powerful.
  • The correlation on a trait between separated identical twins directly estimates heritability (h2=rMZAh^2 = r_{MZ-A}).
  • Results of adult monozygotic twins raised apart (MZ-A) (Zuckerman, 2005).
    • Extraversion
    • Neuroticism
    • Correlations on Extraversion - Twins Raised Apart
      • Study/Test: Shields 1962/MPI
        • Population: UK
        • MZ-A: .61
      • Study/Test: Pederson et al. 1988/EPI Short form
        • Population: Sweden
        • MZ-A: .30
      • Study/Test: Langinvainio et al. 1984/EPI Short form
        • Population: Finland
        • MZ-A: .38
      • Study/Test: Bouchard 1993/MPQ
        • Population: USA
        • MZ-A: .40
      • Study/Test: Bouchard 1993/CPI
        • Population: USA
        • MZ-A: .60
      • Study/Test: Bouchard & Hur 1998/MBTI
        • Population: USA
        • MZ-A: .60
    • Correlations on Neuroticism - Twins Raised Apart
      • Study/Test: Shields 1962/MPI
        • Population: UK
        • MZ-A: .53
      • Study/Test: Pederson et al. 1988/EPI Short form
        • Population: Sweden
        • MZ-A: .25
      • Study/Test: Langinvainio et al. 1984/EPI Short form
        • Population: Finland
        • MZ-A: .25
      • Study/Test: Bouchard 1993/MPQ
        • Population: USA
        • MZ-A: .53
      • Study/Test: Bouchard 1993/CPI
        • Population: USA
        • MZ-A: .55
Limitations of Adoption Studies
  • Selective placement: foster homes vetted by social service agencies may be more similar than families at large.
  • If foster families are more homogenous, heritability estimates may underestimate the effect of family environment.

Concluding Comments

  • Genetic research on personality has focused on extraversion and neuroticism.
  • Estimates of heritability differ due to age, tests, reliability, countries, and so on.
  • Advanced model-fitting analyses across twin and adoption designs produce heritability estimates of about 50% for extraversion and about 40% for neuroticism (Loehlin, 1992).
  • These genetic effect sizes are amongst the largest effect sizes found anywhere in the behavioural sciences!
  • Other dimensions in the FFM
    • Openness to experience: 45%
    • Conscientiousness: 38%
    • Agreeableness: 35%

Importance of Environment

  • Despite its name, behavioural genetics is as useful in the study of environment as it is in the study of genetics.
  • Indeed genetic research provides the best available evidence yet for the importance of the environment.
  • Heritability estimates rarely exceed 50% and thus the environmental influence is rarely less than 50%.