Twin Studies
In medicine, twin studies use comparisons between
identical and non-identical twins to explore the contributions of
genes and environment to health and disease.
130 years ago, Darwin's cousin Francis Galton (the pioneer of
twin research) had already recognised that twins provide a
'naturally occurring experimental design', a 'living laboratory' in
which to study the effects of nature and nurture. And he had also
noted similarities in their constitutions, their tendency to
develop similar diseases.
Since then, twin studies have fallen in and out of favour as
determinist and environmentalist models of human nature have waxed
and waned. Today, medical researchers are increasingly recognising
the power of the twin study model, combined with new gene
technologies, to tease out the genetic bases for a range of common
but complex diseases, such as cancer, heart disease, arthritis and
diabetes. Modern twin studies can also help to locate the genes and
explore the metabolic pathways involved, opening up the possibility
of finding new ways to prevent or treat such illnesses.
In any trait, both genes and environment are involved and it is
notoriously difficult to separate out their influences. Twin
studies do so by comparing identical with non-identical twins.
Comparing the two groups produces information on the relative
contribution of genes and environment, and how the two
interact.
Studying identical twins alone is less useful, since they share
not only all their genes but also their, birthdate, uterine and
early environment, schooling and family background. Non-identical
twins act as a control, as they too share the same early
environmental factors, but are no more genetically alike than any
other siblings.
The researchers look for traits that show a greater similarity
in identical twins than in non-identical twins - this greater
similarity must indicate a shared genetic basis for the trait. This
is expressed as a percentage known as 'heritability' - for example,
asthma has a heritability of 60 per cent, and insulin-dependent
diabetes mellitus 70 per cent, indicating a strong genetic
predisposition.
Heritability and what it measures is often misunderstood. It is
a population-based statistic, a measure of variance in a group of
people. It is not a measure of the relative contribution of genes
in an individual, or a measure of their risk. For example, a
heritability estimate of 70 per cent for 'obesity' does not mean
that 70 per cent of any one person's obesity is somehow due to
his/her genes and the other 30 per cent to his/her environment or
that they have a 70 per cent risk of disease.
Another common confusion is to equate the heritability of a
trait and the number of genes that may influence it - as is
often done in headlining the results of twin research. The
discovery of a degree of heritability gives clues to how easy genes
will be to uncover and is only a first step in understanding the
complex relationship between genes and environment in health and
disease.