Genetics of chronic obstructive pulmonary disease

Figures & data

Table 1 Linkage analysis: genomewide scans

Study	Population	Main results	LOD score§
Framingham Heart Study (Joost et al 2002)	Healthy Subjects: 1578 members of 330 families	Chromosome 6: FEV1	2.4
		Chromosome 21: FVC	2.6
National Heart, Lung and Blood Institute Family Heart Study (Wilk et al 2003)	Healthy Subjects: 2178 members of 391 families	Chromosome 4: FEV1/FVC	3.5
		Chromosome 18: FEV1	2.5
		Chromosome 18: FVC	2.9
Boston Early-onset Study (Silverman et al 2002)	Patients with COPD + Pedigrees: 585 members of 72 families	Chromosome 2q: FEV1/FVC	4.13
		Chromosome 12p: FEV1	3.26*
		Chromosome 19q: Chronic bronchitis	3.30*
		Chromosome 12p: Airway Obstruction	3.14*
Netherland Asthma Study (Postma et al 2005)	Patients with Asthma + Pedigrees: 200 families	Chromosome 2q: Pre- and postbronchodilator FEV1%VC	4.9/6.03**

^§ LOD > 3 denotes significant evidence for linkage; LOD < 3 denotes suggestive evidence;

* only smoker;

** pre- and postbronchodilator FEV₁%VC was obtained for chromosome 2q (2q32, LOD 4,9/6.03).

Figure 1 Graphical depiction of cells and mediator systems involved in COPD pathogenesis. Oxidative stress, inflammation and proteolysis and their opponents are the important components influencing disease pathogenesis.

Figure 2 Shows graphically the principle of gene expression profiling using cDNA microarrays. The activity of up to 20000 genes could be simultaneous evaluated. Usually two tissues or cell populations are compared and the final result shows the different genetic activity of the sample of interest compared to a reference control.

JoostOWilkJB2002Genetic loci influencing lung function: a genome-wide scan in the Framingham StudyAm J Respir Crit Care Med165795911897646

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WilkJBDeStefanoAL2003A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart StudyAm J Respir Crit Care Med16715283312637344

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SilvermanEKMosleyJD2002Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypesHum Mol Genet116233211912177

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