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Pedigrees and Genetic Relatedness · Tutorial 78 of 989

Kinship Convention and Coefficient Errors

Use the relationship \(A_{ij}=2\phi_{ij}\) to interpret pedigree values correctly and check calculations for relatives and self-pairs.

Beginner 10 min read

What You'll Learn

  • Define kinship as an identity-by-descent probability for a sampled allele pair.
  • Convert kinship coefficients to additive relationship coefficients without a factor-of-two error.
  • Check self-kinship and diagonal entries when individuals are inbred.
  • Compare standard kinship and additive relationship values for familiar relative pairs.
  • Diagnose an incorrect covariance calculation caused by mixing conventions.

Why the Convention Matters

Pedigree calculations use two closely related quantities that are easy to confuse: the kinship coefficient and the additive relationship coefficient. They describe the same underlying relatedness on different scales. A factor-of-two error can therefore leave a calculation looking plausible while changing every reported coefficient or genetic covariance.

The distinction matters especially when interpreting a pedigree matrix. Its off-diagonal entries are often additive relationship coefficients, while kinship is the probability that two sampled alleles are identical by descent. The diagonal entries also have a specific interpretation: they account for an individual's inbreeding and are not simply equal to one.

Definition: Let \(\phi_{ij}\) denote the kinship coefficient for individuals \(i\) and \(j\): the probability that an allele sampled at random from \(i\) and an allele sampled at random from \(j\) are identical by descent (IBD). Let \(F_i\) be the inbreeding coefficient of individual \(i\), the probability that the individual's two alleles at a locus are IBD. The additive relationship coefficient is \(A_{ij}=2\phi_{ij}\). Thus, \(\mathbf{A}\), the additive relationship matrix, is twice the kinship matrix.

IBD means that the alleles descend from the same ancestral allele copy; it does not merely mean that they have the same observed state. Kinship is a probability for a pair of sampled alleles, not the probability that two people share at least one allele. The additive relationship coefficient is a rescaled measure of relatedness, so its values need not be probabilities.

For a pair of distinct, non-inbred individuals, familiar values are often stated in either convention. For example, parent–offspring kinship is \(1/4\), whereas their additive relationship coefficient is \(1/2\). If a source says “relationship coefficient” without specifying its convention, check its definition rather than assuming which scale it uses.

The Self-Kinship Check

The diagonal is an especially useful place to detect a convention error. If the same individual is used for both allele draws, the two draws can select the same physical allele copy, which occurs with probability \(1/2\). If they select different homologous copies, those copies are IBD with probability \(F_i\). Therefore self-kinship depends on inbreeding.

$$ \phi_{ii} = \frac{1}{2}(1)+\frac{1}{2}F_i = \frac{1+F_i}{2}, \qquad A_{ii}=2\phi_{ii}=1+F_i. $$

For a non-inbred individual, \(F_i=0\), so \(\phi_{ii}=1/2\) and \(A_{ii}=1\). For an inbred individual, the kinship diagonal is greater than \(1/2\), and the additive relationship diagonal is greater than 1. This is not a probability exceeding one: \(A_{ii}\) is a scaled coefficient, not an IBD probability.

Worked Example: Checking the Diagonal for an Inbred Individual

Suppose a hypothetical pedigree gives individual \(K\) an inbreeding coefficient \(F_K=0.20\). Find the kinship diagonal and additive relationship diagonal, and explain what each value means.

Using the self-kinship formula, \(\phi_{KK}=(1+F_K)/2=(1+0.20)/2=1.20/2=0.60\). Thus, two alleles sampled as specified for self-kinship are IBD with probability \(0.60\).

The additive relationship diagonal is \(A_{KK}=2\phi_{KK}=2(0.60)=1.20\), equivalently \(1+F_K=1.20\). The value \(1.20\) is a coefficient, not an IBD probability. Reporting \(0.60\) as the additive relationship diagonal would use the kinship scale instead.

This check depends on using the same inbreeding convention throughout: \(F_K\) is the probability that the two alleles within \(K\) are IBD. No assumption that \(K\) is outbred is appropriate here, because the stated inbreeding coefficient is positive.

Familiar Relative Pairs on Both Scales

For distinct relatives, convert a kinship value to an additive relationship value by multiplying by two; convert in the other direction by dividing by two. The familiar values below assume the usual simple pedigree conditions: founders are unrelated and non-inbred, and no additional loops or relationships alter the stated pair's ancestry. They are expected pedigree coefficients, not statements about the realized alleles at every locus.

PairKinship \(\phi_{ij}\)Additive relationship \(A_{ij}=2\phi_{ij}\)
Parent and offspring\(1/4\)\(1/2\)
Full siblings\(1/4\)\(1/2\)
Half-siblings\(1/8\)\(1/4\)
Grandparent and grandchild\(1/8\)\(1/4\)
Avuncular pair (aunt/uncle and niece/nephew)\(1/8\)\(1/4\)
First cousins\(1/16\)\(1/8\)
Monozygotic twins\(1/2\)\(1\)

These values provide quick consistency checks. Under the stated conditions, a parent–offspring or full-sibling entry of \(1/4\) is on the kinship scale; the corresponding additive relationship entry is \(1/2\). A first-cousin entry of \(1/8\) is on the additive relationship scale, while kinship is \(1/16\). If a calculation gives one of these standard values, label its scale explicitly.

Worked Example: Converting a Full-Sibling Value

Two hypothetical full siblings have unrelated, non-inbred parents and are not otherwise related through the pedigree. Their kinship coefficient is \(\phi_{12}=1/4\). Find their additive relationship coefficient.

Apply the conversion: \[ A_{12}=2\phi_{12}=2\left(\frac{1}{4}\right)=\frac{1}{2}=0.500. \]

The siblings' additive relationship coefficient is \(0.500\), while their kinship coefficient is \(0.250\). The assumption about the parents and the absence of additional pedigree paths matters: if the pedigree contains other shared ancestry, the total kinship may differ from the standard full-sibling value.

Why the Factor of Two Appears

The conversion is a definition of scale, not an extra pedigree-generation rule. Kinship records the IBD probability for one sampled allele from each individual. The additive relationship coefficient is defined to be twice that probability. This scaling gives the familiar additive coefficient \(1\) for an outbred individual's diagonal and \(1/2\) for an ordinary parent–offspring pair.

The diagonal identity gives a direct justification for the same scaling. A self-kinship value includes a \(1/2\) chance that the two draws select the same allele copy, as well as the contribution from inbreeding when different copies are drawn. Doubling that probability yields \(A_{ii}=1+F_i\), the standard additive relationship diagonal. In particular, an outbred diagonal is \(1\), while kinship on that diagonal is \(1/2\).

Result: On a single consistent pedigree and with the same individual ordering, \(\mathbf{A}=2\mathbf{\Phi}\), where \(\mathbf{\Phi}\) is the kinship matrix. In particular, \(\phi_{ii}=(1+F_i)/2\) and \(A_{ii}=1+F_i\). For any entry, first identify its scale; then apply the factor of two only when converting between scales.

The scaling also explains the standard covariance convention. If \(\sigma_A^2\) denotes the additive genetic variance on the reference scale, the pedigree-based additive genetic covariance between individuals \(i\) and \(j\) is \(\operatorname{Cov}(G_i,G_j)=A_{ij}\sigma_A^2=2\phi_{ij}\sigma_A^2\). For an individual's variance, this gives \(\operatorname{Var}(G_i)=(1+F_i)\sigma_A^2\). These expressions presume the standard additive genetic model and that the same variance and relationship conventions are being used together.

Worked Example: Catching a Scale Error in Covariance

Suppose two hypothetical first cousins have kinship \(\phi_{12}=1/16\), and the additive genetic variance is \(\sigma_A^2=16\) squared units. Find their additive genetic covariance. Assume the standard pedigree covariance model and the unrelated, non-inbred founder conditions for the first-cousin value.

First convert kinship to the additive relationship coefficient: \(A_{12}=2\phi_{12}=2(1/16)=1/8=0.125\). Then use the covariance formula: \[ \operatorname{Cov}(G_1,G_2)=A_{12}\sigma_A^2=(0.125)(16)=2 \] squared units.

A common incorrect calculation substitutes kinship directly for \(A_{12}\), obtaining \((1/16)(16)=1\) squared unit. That is half the covariance under the stated convention. The arithmetic is fine; the error is combining a kinship coefficient with a formula that requires the additive relationship coefficient.

A Practical Convention Check

When reading or constructing a pedigree matrix, verify the convention before interpreting any entry. A matrix called a “relationship matrix” commonly uses \(A\), whereas a kinship matrix uses \(\phi\); labels alone are not enough if the source is unclear. Compare a known pair or the diagonal with its expected value, and state the scale beside reported numbers.

1
Identify the quantity.
Check whether the entry is defined as an IBD probability for a sampled allele pair (\(\phi_{ij}\)) or as an additive relationship coefficient (\(A_{ij}\)).
2
Check the diagonal.
Use \(\phi_{ii}=(1+F_i)/2\) or \(A_{ii}=1+F_i\). For an outbred individual, these are \(1/2\) and \(1\), respectively.
3
Check a familiar pair.
Under the standard unrelated, non-inbred founder assumptions, parent–offspring kinship is \(1/4\), while the additive relationship coefficient is \(1/2\).
4
Match the formula to the scale.
Use \(A_{ij}=2\phi_{ij}\) when converting, and use \(\operatorname{Cov}(G_i,G_j)=A_{ij}\sigma_A^2\) when the covariance formula is written in terms of additive relationship coefficients.

Common Mistakes

  • Calling a kinship value the additive relationship coefficient. A parent–offspring value of \(1/4\) is kinship under the standard assumptions; the additive relationship coefficient is \(1/2\). State the symbol and convention.
  • Using \(1\) for every diagonal. The additive relationship diagonal is \(1+F_i\), so it equals \(1\) only when the individual is not inbred. The kinship diagonal is \((1+F_i)/2\), not \(1\) for an outbred individual.
  • Treating an additive relationship coefficient as an IBD probability. \(A_{ii}\) may exceed \(1\) when \(F_i>0\), because it is a rescaled coefficient rather than a probability.
  • Interpreting kinship as the chance of sharing any allele. Kinship is the IBD probability for a pair of sampled alleles. It is not the probability that two individuals share at least one allele.
  • Doubling twice or not at all. Keep track of which scale a formula expects. If a covariance formula uses \(A_{ij}\), convert a given \(\phi_{ij}\) first; if the formula is written with \(2\phi_{ij}\), do not multiply by two again.
Key takeaway: Kinship and additive relationship describe relatedness on different scales: \(A_{ij}=2\phi_{ij}\). Check self-kinship using \(\phi_{ii}=(1+F_i)/2\), check the additive diagonal using \(A_{ii}=1+F_i\), and label the scale before interpreting or using a coefficient.

Check Your Understanding

Answer each question by naming the coefficient scale as well as giving the value.

  1. An outbred individual has \(F_i=0\). What are \(\phi_{ii}\) and \(A_{ii}\)?
  2. Under the usual unrelated, non-inbred founder assumptions, a parent–offspring pair has kinship \(1/4\). What is its additive relationship coefficient?
  3. A first-cousin pair has \(A_{ij}=1/8\). What is its kinship coefficient under the same standard assumptions?
  4. Why is an additive relationship diagonal of \(1.20\) not an impossible IBD probability?
  5. If a covariance formula requires \(A_{ij}\), what conversion is needed when the given value is \(\phi_{ij}\)?
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