ABSTRACT

Similar to other complex diseases, the majority of association studies in COPD genetics have used the case-control design. Candidate genes have been identified based on prior knowledge of disease biology (Table 10.4), and polymorphisms in those genes have tested for association with COPD or related phenotypes. Association studies have largely focused on the genes in the following pathways: protease-antiprotease, oxidant-antioxidant and xenobiotic metabolism, atopy and asthma-related genes, inflammatory cytokines, innate immune system, as well as other candidate genes (Table 10.6).