Introduction to Quantitative Genetics

In principle:

We can extend single-locus  multi-locus  quantitative models

1AA : 2Aa : 1 aa (1AnAn : 2Anan : 1anan)n normal distribution

Genotype / Phenotype correlation Heritability
    Genotypic expression depends on environment
    Heritability (h2) estimates proportion of phenotypic variation due to genetic variation  

"Is It Genetic?" : Genotype / Environmental interaction is variable (& unpredictable)
       The Norm of Reaction describes this

Quantitative Trait Loci (QTL) can be correlated with phenotypic variation

Variation can be quantified (review)
      mean  standard deviation:     
      variance: 2

Variation follows "normal distribution" (bell-curve) iff
              Multiple loci are involved  (quantitative)
              Each locus has about equal effect (additive)
              Each locus acts independently
                    [interaction variance (see below) is minimal]
              Ex.: Suppose a trait is influenced by 5 loci, each with two alleles A & a
                      A contributes 2 units to phenotype, a contributes 1 unit
                      Range of contributions = (2u aa : 3u Aa: 4u AA)5
                         mean = 15 units , range 10 ~ 20 units
                               (Aa Bb Cc Dd Ee) vs (aa bb cc dd ee ff ~ AA BB CC DD EE FF)
                         35 = 243 genotype classes in 11 phenotype classes variation continuous

Variation has two sources: genetic (2G) & environmental (2E) variance
       Variance is additive:       
2A+B  =  2A  +  2B

       phenotypic variance      2P  =  2G  +  2E2GxE

             where 2GxE is the interaction variance, if 2G  and  2E are not independent

              If  2G  and  2E  are assumed to be additive, then the interaction variance  2Gx ~ 0

      additive variance            2A  =  2G  +  2E  

      Heritability                          h2   =  2G  /  2A   =  2G / (2G  +  2E)

          "heritability in the narrow sense" genetic component of the additive variance
           heritability (h2) is the fraction of the (additive) phenotypic variance due to genotypic variance
                  ignoring interaction variance  2GxE

                       genotype / phenotype relationship differs in different environments.
                       Ex.: same strain of corn produces different yields in different fields
                       Ex.: measured h2 of myopia varies across cultures

       Artificial breeding indicates that phenotypic variation is (often) highly heritable
             Artificial selection on agricultural species
                  Commercially useful traits can be improved by selective breeding
             Common Garden experiments           
shows association between variables
(cf. regression analysis)
                    Mid-parent value
Offspring / mid-parent correlation estimates heritability

                    Limits of prediction from correlation & regression

            For many quantitative traits in many organisms:  h2 = 0.5 ~ 0.9

Heritability is typically calculated in a single environment.

The Norm of Reaction mediates genotype through environment to produce phenotype
             Variation within groups: Is variation 'genetic' ?
             Variation among groups: Are differences 'genetic'?

Quantitative Trait Loci (QTL) studies: Hamer et al. (1993) shows nature of experimental design and analysis  
             LOD analysis; a Poker example.   

Genetics, Heritability, & Society

"Is it Genetic?"
       Myth 1: That which is heritable is purely genetic
            phenotypic variance       2P  = 2G   [ignore   2E  & 2GxE]

       Myth 2: That which is genetic is fixed & unchangeable

          Ex.:Heritability, IQ, & Education
                 IQ test scores in Homo: h2 = 0.7~0.8 within groups
                      Highly heritable traits can be modified by environment if 2GxE is large

       Ex.: Heritability studies of Myopia (National Public Radio, 2015 Mar 24)
See also:
         Gray & Thompson (2004) [Fig. 3]. Neurobiology of intelligence: ethics and science, Nature Revs Neurosci 5: 471-482.
         Foster (2006). Science & Ethics in the Human Genome Project.
         American Psychological Association (1995) Intelligence: Knowns and Unknowns
         American Eugenics Archive
         Wray & Visscher (2008) Estimating trait heritability. Nature Education 1: 29

All text material ©2015 by Steven M. Carr