Prof. Mana Raj Kolakshyapati, Ph.D.

Lecture: Eight

Concept of Heritability
Introduction:

Heritability has been defined in various ways, but for our purpose we will consider it to be a measure of
the strength or consistency of the relationship between performance or phenotypic values and breeding
values for a trait in a population. The breeding values are an indication of how much genetic value is
passed along to the next generation. Definition of heritability is a reflection of the degree to which
offspring performance is a reflection of the performance of their parents. How much advantage for a
particular trait do superior animals transmit to their offspring? Heritability estimates help us answer this
important question.

When a trait is highly heritable the performance of animals reveals a lot about their breeding values. In
contrast, when a trait has a low heritability, a breeding animal’s own performance is not likely to be a
good indicator of its breeding value. Under those circumstances, the offspring of high performing
parents will probably not perform much differently than the offspring of low performing parents.

What is a heritability estimate?

Heritability is the single most important consideration in determining appropriate animal evaluation
methods, selection methods and mating systems. Heritability measures the relative importance of
hereditary and environmental influences on the development of a specific quantitative trait. More
specifically, it measures that part of the total variability of the trait caused by genetic differences among
the animals on which the measurements were taken.

Heritability, then, is a ratio of genetic variance σ2G to total variance σ2P

h2 = σ2G / σ2P

Total variance (or phenotypic variance) includes variance caused by genetic and environmental factors
σ2P = σ2G + σ2E
Mathematically:

Heritability values are always positive and theoretically ranging from zero to one (0 – 1.0). In some
instances, the value falls outside this range, This is a chance occurrence caused by statistical
manipulation. It is expressed in percentage; e.g. 12% or 35%. In livestock species, Heritability values
above 0.7 (70%) are extremely rare.

Typically heritability estimates below 0.20 (20%) are considered lowly heritable, traits with heritability
between 0.20 (20%) and 0 .40 (40%) are considered moderately heritable and traits with heritability
above 0 .40 (40%) are considered highly heritable.

A heritability estimate is a partial description of one trait in one group of animals at some particular
time. It may vary (for each trait) during one time period from herd to herd, or it may vary in the same
herd from time to time. This is natural because herds differ in genetic makeup and because there are
many different environmental circumstances from herd to herd or within a herd from year to year.
These genetic and environmental differences influence the size of the numerical value of the terms (i.e.,
genetic variance, σ2G and total variance, σ2P) used in the estimation of heritability.

The numerical value of a heritability estimate can be increased or decreased by changes in either of its
component parts. An increase results from a reduction in the environmental variance or from an
increase in genetic variance. Conversely, a decrease results from an increase in environmental variance
or from a reduction in genetic variance.

A number of factors affect genetic variance:

 Introduction of new and unrelated animals into the herd may increase the genetic variance.
 Effective selection within a group of animals over a number of generations decreases the
genetic variance.
 The use of inbreeding as a system of mating also reduces the genetic variance.

Any management practice that ensures uniform treatment of animals reduces environmental variance.
For example, if you give each animal the same amount and quality of feed, you reduce environmental
variance. When you make adjustments for any environmental differences, your objective is to remove
performance differences that result because animals are "treated" differently.
Estimate of heritability is based on: in general;

 The degree of resemblance among related individuals vs. non-related individuals in some animal
population. Family units most often used to evaluate degree of resemblance include parents
and offspring; full sibs (i.e., full brothers and/or sisters); and paternal half sibs (i.e., half brothers
and/or sisters).

The statistical technique used in calculating heritability:

 is chiefly dependent upon available records. One practical consideration is the kind of family
units represented in the data. This may dictate the technique used. If you have a choice of
techniques (for example, if more than one kind of family unit is represented in the data set),
then you must consider which technique gives the least amount of bias from a variety of
sources.

Complications in any technique arise most often when you try to account for the effects of
environmental factors:

 It needs to equalize environmental factors as much as possible and adjust for other non-genetic
factors that influence animal performance.
For example, if you are evaluating resemblance between weaning hip heights of cows and their
calves, you might make adjustments for differences in age at the time of measurement, age of dam,
sex of calf, season of birth, and so forth.

If you fail to adequately account for environmental contributions, you will reduce the estimate of
heritability. From a practical standpoint, this means you will be less able to recognize genetic differences
among animals you are considering for breeding purposes

One of the most common estimation techniques of estimating h2 is the paternal half-sib analysis of
variance. With this method, the total variance is divided into two parts.

 In one, variation is attributed to differences among progeny of different sires.

 In the other, the variance is attributed to differences among offspring of the same sire.

The analysis of variance is generally put into tabular form as follows:

Source of variance Degrees of freedom Mean squares Expected mean squares

Total N-1
Among sires S-1 M1 σ2w +kσ2S
Within sires N-S M2 σ2w
Degrees of freedom: it is related to number of observations minus number of constraints. For example,
N - 1 is the total number of measurements (observations) of a specific trait, such as hip height, minus 1.
Mean squares, M1 and M2, represent estimates of variances associated with "among sires" and "within
sires" sources of variance.
Expected mean squares are theoretical components of their respective mean squares.
k is the weighted number of progeny per sire.
Vs is a measure of the resemblance among half sibs and is interpreted to be one-fourth of the genetic
variance for the trait concerned.
σ2w is interpreted to be three-fourths of the genetic variance and all of the environmental variance.
σ2s is calculated from the mean squares (i.e., variances) associated with the "among sires" and "within
sires" sources of variance as (M1 - M2)/k.
Heritability ( h2) is then calculated as: h 2 = 4 σ2s / σ2s + σ2w
Heritability can be defined in two senses:
Heritability in Broad Sense: It is the fraction of total variance caused by total genotypic variances or It is
the ratio of total genetic variance to total phenotypic variance. It can also be explained as the
proportion of phenotypic variance that can be explained by all genetic differences among individuals,
i.e. additive genetic variance and non additive genetic variances.

h2 = σ2G / σ2 p

It gives an upper value to the actual breeding value of an individual. We can make three important
observations about this definition.
1. First, it’s entirely flexible about how specific genetic effects contribute to σ2G. The broad-sense
h2 doesn’t care whether σ2G comes from a single Mendelian variant in just one gene, or the small
additive effects from variants in 100 different genes, or complex interactions between every
variant in the whole genome. We’ll see below that this is an important distinction between
broad-sense h2 and some of the other types of heritability.
2. Second, broad sense h2 is entirely flexible about how σ2G relates to σ2P.

We could choose to assume that the effects of genes and environment are independent and thus write:

h2= σ2G/ σ2G + σ2E

But that assumption isn’t required. By simply writing the denominator as σ2P, we allow for the
possibility that genetic and environmental factors are correlated or interact in some way. This is
important since it highlights that the effect of environment on the trait isn’t simply the “remainder”
after accounting for all the genetic effects, instead they can overlap and interact in complex ways.

Geneticists often like to split σ2G (the genetic variance) into two:
 additive genetic variance (σ2A) and
 non-additive genetic variance (σ2NA).
Narrow Sense Heritability:
In practice, the flexibility of broad-sense h2 makes it very hard to estimate without making strong
assumptions. Allowing for effects of all possible interactions and of all possible genetic variants
means having a functionally infinite space of possible effects. One useful way to simplify this is to
think of the total variance explained by genetics as a combination of
 additive effects,
 dominant/recessive effects, and
 interaction effects between different variants.

That is; σ2G = σ2A+σ2D+σ2I

For a number of reasons, we might expect the variance explained by additive genetic effects σ2A to be
the largest and most immediately useful portion of the total σ2G. Focusing on just this additive genetic
component leads us to the definition of the narrow-sense heritability . Therefore, Narrow Sense
Heritability is the proportion of phenotypic variation only due to additive genetic effects.
h2 = σ2A/ σ2p

In this estimate, it includes mostly additive type of gene action or the average effects which the
individual genes have in that respective population. In any breeding program, we consider heritability in
narrow sense, because it is approximately the same as the percentage of the genetic progress made in
the next generation, when superior individuals are selected for parents.

If there are no dominant/recessive or interaction effects (i.e. σ2D=σ2I =0) then the narrow-sense and
broad-sense heritability are the same. Otherwise the narrow-sense heritability will be smaller since it
excludes these other types of genetic effects.

Most scientific discussion of the heritability of different traits has focused on h2. One of the nice
features of h2 is that it implies a simple relationship between:
  how genetically related two people are and
 how similar the trait will be for those two people.

We can use this relationship to estimate h2 in twin and family studies. In the simplest case, we can
compare monozygotic twins (often called “identical” or MZ twins) to dizygotic (“fraternal” or DZ) twins.

MZ twins shared their entire DNA, while DZ twins share half of their DNA on average. Twins also largely
share the same environment regardless of whether they are MZ or DZ.

So to estimate h2 we can observe how correlated a trait is between pairs of MZ twins and how
correlated the trait is between DZ twins and see if those correlations are different. If the MZ twins pairs,
with their higher genetic similarity, are more strongly correlated than the DZ twin pair, which suggests
that genetics explains some of the variance in the trait.

The reasons for considering heritability in narrow sense and other facts of heritability:

 The additive genetic variance is the main cause of resemblance between relatives, because they
are stable and are regularly passed on to the next generation. Dominance and epistasis does not
passed on with the same guarantee because of segregation and recombination of the alleles.
 Heritability in narrow sense is the chief determinant of the observable genetic properties of the
population and of the response to selection.
 It can be readily estimated from the observations made on the population.
 In general, the heritability of a trait is different in each population and in each set of
environments; it cannot be extrapolated from one population and set of environments to
another. Because genotype and environment interact to produce phenotype, no partition of
variation can actually separate causes of variation.
 As a consequence of the argument just given, knowledge of the heritability of a trait does
not permit us to predict how the distribution of that trait will change if either genotypic
frequencies or environmental factors change markedly.
 A high heritability does not mean that a trait is unaffected by its environment.
 Heritability is not the opposite of phenotypic plasticity. A character may have perfect
heritability in a population and still be subject to great changes resulting from
environmental variation.
Mathematical Explanation:

Heritability can also be conceived of as regression of breeding value on phenotypic value, since it
indicates the change in breeding value when the performance changes by one unit. So,

h2= bAP = CoVAP/VP or,

bAP = CoVA (A+E) /VP

= VA/VP

Where, CoVAP is the covariance between breeding value (A) and phenotypic value (A+E),

CoVAE = 0, when breeding value and non genetic influences are independent,

CoVAA = σ2A

Sewall Wright suggested that the correlation between breeding values and phenotypic values, rAP is
equal to the square root of the heritability. This follows from the general relationship between
correlation and regression coefficients:

rAP = σ2A / σA σP

Where P = (A+E),

rAP = σA (A+E)/ σA σP

If A & E are independent, then, σAE = 0

rAP = σA / σP

Therefore, rAP = h;

h is also terme as standardized partial regression i.e.

σP
rAP = bAP ------
σA

Where, bAP = σ2A / σ2P

= h2
Then, rAP = σ2A / σ2P X σP/ σA

rAP = bAP or,

rAP = σA/ σP or rAP = h

Individuals expected breeding value is the product of its phenotypic value and the heritability of the
trait because the heritability is the regression of breeding value on the phenotypic value of the trait.

Expected Breeding Value = h2 X Phenotypic Value.

Since the value of heritability depends on the magnitude of all the components of variance, a change in
any one of these components will affect the value of heritability and all the genetic component of
variances are influenced by the gene frequencies in a population and heritability may differ from one
population to another according to past history of the population maintained long enough for an
appreciable amount of fixation to have taken place are expected to show lower heritability than large
population.

The environmental variation is dependent on the condition of management; more variable conditions
reduce the magnitude of heritability and more uniform condition increases heritability. So, whenever a
value is stated for the heritability of a given trait, it must be understood to refer to a particular
population under particular conditions. Values found in other population under other circumstances will
be more or less the same according to whether the structure of population and environmental
conditions are more or less alike.

Importance of heritability:

1. It helps in predicting the amount of progress or genetic gain that might be made in selection for
a particular trait.
2. With the knowledge of heritability estimates, it helaps in choosing effective breeding plan. If the
trait is highly heritable, it indicates that additive gene action is important for that trait and the
mating of best to best should produce more desirable offspring.
3. If the heritability of the trait is high, the correlation between the phenotype and the genotype of
an individual, on an average should also be high and the selection on the basis of individual’s
own performance should be effective.
4. Low heritability estimates indicate that the correlation between genotype and phenotype is low.
In this case, while selecting animals much more attention must be paid to the performance of
the collateral relatives and the progeny.
5. Low heritability is also an indication of low additive gene action i.e. non-additive gene action
such as dominance, over-dominance and epistasis may be important. This makes it necessary to
use special method of selection and mating for greater improvement in the population.

Estimation of Heritability:
The heritability is estimated from the degree of resemblance between relatives. In general, the half sib
correlation and regression of offspring on sire are the most reliable relatives to estimate the heritability,
because the environmental factors are easily eliminated while estimating the heritability values. But the
regression of offspring on dam is sometimes liable to give too high an estimate on account of maternal
effect. The full-sib correlation which is only relationship for which an environmental component of
covariance is the least reliable of all. The component due to common environment is often present in
large amount and is difficult to overcome by experimental design and full-sib covariance is further
influenced by the dominance variance. The full-sib correlation can therefore seldom do more than set
an upper limit to heritability.
Phenotypic Covariance and Degree of Resemblance between Relatives in terms of h2:
Relatives Covariance Regression (b)/Correlation (r)
Offspring and one parent ½ σ2A b = ½ h2
Offspring and mid-parent ½ σ2A b = h2
Half sib 1/4 σ2A t = 1/4 h2
Full sib ½ σ2A + 1/4 σ2D + σ2E t ≥ ½ h2
Offspring Parent Regression:
The regression of offspring on one parent, the heritability is estimated as twice the regression
coefficient i.e. 2b = h2 and when mid-parent is used to estimate the h2 = b.
A complication in the use of the regression of offspring on parents arises, if the variance is not equal in
the two sexes. If this is the case, the regression on mid – parent cannot be used to calculate h2. It must
be calculated separately for each sex. The h2 in males for example, is estimated from the regression of
sons on sires and daughter on sires.
The regression of daughter on sires must be adjusted for differences in variance, multiplying it by the
ratio of phenotypic standard deviation of males to females (σ males / σ females). Thus, if b is the regression
of daughter on sire, the adjusted regression is:
b’ = b X σ p (males) / σ p (females)
Similarly, the heritability in females is estimated from the regression on daughter on dams and of sons
on dams adjusted by
b’ = b X σ p (females) / σ p (males)
Here, the regressions are all of the offspring on one parent, so, the regression and the standard error
must be multiplied by 2 to obtain the heritability value.
Sib Analysis:
A common form in which data are obtained with animals in the following patterns i.e. a number of
males are each mated to several females, the males and females being randomly chosen and mated
randomly. A number of offspring from each female are measured to obtain biological data. The
individuals measured thus forms a population of half - sib and full - sib families. An analysis of variance is
divided into observational components attributable to:
 1. Differences between the progeny of females mated to the same sire i.e. between sire
component of variance; σ2S
2. Differences between the progeny of females mated to the same sire i.e. between dams within
sires component of variance; σ2D
3. Differences between the individual offspring of the same female i.e. within progeny component
of variance; σ2w
Example:
There are supposed to be ‘S’ sires each mated to ‘D’ dams which produce ‘K’ progenies from
each mating pairs. The values of “mean squares” within progenies is itself the estimate of the

within progeny variance component σ2w. But the other mean squares are not the variance

components.
The Analysis of Variance (ANOVA) of full-sib and half-sib families are given in the table:
Source of Degree of Sum of squares Mean Squares Expected MS
variation freedom (d.f.)
Between Sire S─1 SSS MSS = SSS/ S ─ 1 σ2w+K2 σ2D+K1 σ2S

Between S(D ─ 1) SSD MSD= SSD/ S(D ─ 1) σ2w + K1 σ2D

dam/Sire
Within Progenies SD(K ─ 1) SSW MSW= SSW/ SD(K ─ 1) σ2w

Note: S = Number of sires; D = Number of dams/ Sire and K = Number of progeny per dam
Estimation of Variance Components:
Between dam mean squares is composed of the within progeny component together with K
times the between dam component, so the between dam component of variance is estimated
as;
σ2D = MSD ─ MSW ∕ K
Similarly, the between sire component of variance is estimated as:
σ2S = MSS ─ MSD ∕DK
Where, DK is the number of offspring per sire.
The estimate of phenotypic variance is given by the sum of the three observational components
2
i.e. σ P = σ 2S + σ 2D + σ 2W
Genetic Translation of Observational Components of Variance:
Between sire component of variance is the variance between the mean of half sib families and
it is therefore, estimate the phenotypic variance of half sib which is:
2
σ2S = 1/4 σ A
2
4σ S = σ2A
Since any group variance components is equal to the covariance of the members of the group.
It follows that a within group component is equal to the total variance minus covariance of the
members of the group. The progenies of the dams are full sibs and so the within progeny
variance estimate is:
2
σ2W = σ P ─ Cov. 0f full sib

= 1/2 σ2A + ¾ σ2D

Because,
σ2P = σ2A + σ2D and
CoV F S = ½ σ2A + 1/4 σ2D
Therefore, between dam component of variance is:
σ2Dam = σ2P ─ (σ2S ─ σ2W),
σ2Dam = σ2P ─ σ2W ─ σ2S i.e. σ2D = CoV F S ─ CoV H S
σ2Dam = 1/2σ2A + (1/4σ2D ─1/4 σ2A),
σ2Dam = 1/4 σ2A + 1/4 σ2D
Therefore;
4 σ2Dam = σ2A + σ2D
Consideration of the between sire and dam component of variances, their sum gives an
estimate of full sib covariance i.e.

σ2S + σ2D = ½ σ2A +1/4 σ2D = CoV of F S

Estimation of Genetic Variance:
2
4 σ S = 4 CoV F S = σ2A
2
4σ Dam = σ2A + σ2D or

2{ σ2S + σ2D} = σ2A + ½ σ2D

Therefore, heritability from different observational component are:

h2S = 4 σ2S / σ2S + σ2D + σ2W

h2D = 4 σ2D / σ2S + σ2D + σ2W
h2 ( S +D) = 2{ σ2S + σ2D} / σ2S + σ2D + σ2W