ABSTRACT
Genetic epidemiology of respiratory disease focuses on identifying genetic
determinants of disease development taking environmental factors that preclude, affect, or enhance this development, into account. The respiratory
disease chronic obstructive pulmonary disease (COPD) is almost fully
attributable to the environmental factor, smoking, with the exception of the
genetical predominance of a1-antitrypsine (AAT) deficiency gene, which carriers need no further environmental smoke exposure to develop a pheno-
typic expression of COPD. However, AAT deficiency is accounting for a
minimal number of COPD cases worldwide (<1%), because the fast majority of COPD does not have ATT deficiency but is attributable to cigarette smoking. The role of smoking as major determinant of COPD has risen above
any doubt. However, if ‘‘the whole world’’ would have been smoking, COPD
would have been considered to be a genetic disease, because only a minority
of smokers develops COPD. Therefore, those smokers who do develop
COPD seem to be genetically more susceptible to the deleterious effects of
cigarette smoke than smokers who do not develop COPD. This chapter
focuses on the genetic determinants of diminished lung function, taking environmental factors that preclude, affect, or enhance this development,
into account, with specific emphasis on different study designs that are used
in genetic epidemiology.
