Genetics of chronic obstructive pulmonary disease.
Chronic obstructive pulmonary disease (COPD) is a complex disease with multifactorial background, based on the interaction of environmental and genetic factors. Environmental factors are clearly related to the development of the disease. However, family and twin studies suggested genetics factors to be one of the important determinants for the development of COPD. Different approaches have been used to identify genes of interest. Genomewide linkage analysis found areas of interest on different chromosomes, with some genes located in this regions being identified and replicated as susceptibility genes. Numerous of candidate genes that could be linked to disease pathogenesis have been implicated in COPD genetics. However, the candidate gene approach is often limited by inconsistent results in other study populations. Recently, a combination of different methods is used giving more evidence for some candidate genes, including TGFbeta-1, Surfactant, SERPINE2 and microsomal epoxide hydrolase. In the future ongoing exact phenotype definition, combination of several approaches, genome-wide association studies and animal model genetics will lead to new insights into the genetics of COPD, with epigenetic factors needs to be further investigated and considered in concert with genetic findings.
Seifart
Carola
C
Department of Internal Medicine, Division of Respiratory Medicine, Universitätsklinikum Giessen und Marburg, Standort Marburg, Marburg, Germany. zwiebel@mailer.uni-marburg.de
Plagens
Alexandra
A
D016564:Amyloid beta-Protein Precursor; D015870:Gene Expression; D005858:Germany; D006801:Humans; D018384:Oxidative Stress; D058255:Protease Nexins; D053491:Proteinase Inhibitory Proteins, Secretory; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D011956:Receptors, Cell Surface; D058258:Serpin E2
D016564:Amyloid beta-Protein Precursor; D058255:Protease Nexins; D053491:Proteinase Inhibitory Proteins, Secretory; D011956:Receptors, Cell Surface; C545486:SERPINE2 protein, human; D058258:Serpin E2