ABSTRACT

Strong evidence exists that genetic predisposition and environmental

factors contribute to the development of asthma and other atopic diseases as suggested in Chapter 3 and a number of other sources (1-3). Epide-

miology has identified a number of environmental risk factors for asthma

and atopy in recent years but still, the presence of asthma in first degree

relatives of a child is the single most important risk factor for the develop-

ment of the disease (3). Thus, it seems that different environments may only

influence, trigger, or protect from a disorder, which is predominantly based

on an individual’s genetic susceptibility. In addition, gender and age effects

may modify the interaction between risk factors and genes. Due to these complex interactions, asthma is a truly multifactorial disorder in which

the effect of a single genetic factor may be hard to detect and to evaluate.

However, models testing environmental as well as genetic influences on the

occurrence of a disease over generations have been used in family studies to

disentangle genetics from environmental contributions. In asthma, allergic

rhinitis, or atopic eczema, these segregation analyses revealed a strong but

not exclusive genetic contribution (4-7). Instead of a Mendelian pattern of inheritance, mixed models of genetic and environmental influences gave the

best match with the observed distribution of asthma in extended families.

When asthma was studied in twins, genetics showed a much stronger impact

on disease development than did the environment. Based on these different

studies, heritability, the genetic contribution to the development of asthma,

was estimated to be between 60% and 80% (8,9).