title: [Genetic features during chronic obstructive pulmonary disease].
abstract: Chronic obstructive pulmonary disease is one of the leading causes of mortality, which is caused by the interaction of genetic susceptibility with environmental factors (especially smoking); however, genetic features of chronic obstructive pulmonary disease still remain unknown. The only proven genetic risk factor is severe deficiency of plasma protease inhibitor, alpha-1 antitrypsin. A large number of candidate genes for chronic obstructive pulmonary disease have already been identified in many experimental and clinical studies; however, polygenic etiology of chronic obstructive pulmonary disease is the main reason for conflicting molecular and genetic findings. This review describes the correlation between single nucleotide polymorphism of alpha-1 antitrypsin, alpha-1 antichymotrypsin, microsomal epoxide hydrolase-1, matrix metalloproteinases-1,-9,-12, glutathione S-transferases, heme oxygenase-1, tumor necrosis factor-alpha, transforming growth factor-beta, interleukins-1,-4,-13, beta2-adrenergic receptor, G-globulin genes and chronic obstructive pulmonary disease. Regions on chromosomes 1, 2, 12, and 17 are indicated as candidate chromosomal regions influencing the decrease in spirometric parameters. Genome-wide scan shows direct evidence for linkage of decreased FEV1/FVC ratio to one or more genes on chromosome 2q influencing the development of airflow obstruction. Genetic markers on chromosome 12p suggest evidence for linkage of FEV1 to this region, and observations on chromosome 1p show the relationship between FVC and genes of this region. All these findings also need to be proven, and linkage analysis among combinations of gene candidates for chronic obstructive pulmonary disease has to be done.
authors.affiliation: Institute for Biomedical Research, Kaunas University of Medicine, Kaunas, Lithuania. agne.babusyte@gmail.com
authors.forename: Agne
authors.initials: A
authors.lastname: Babusyte
authors.forename: Brigita
authors.initials: B
authors.lastname: Sitkauskiene
authors.forename: Raimundas
authors.initials: R
authors.lastname: Sakalauskas
mesh_terms: D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D012129:Respiratory Function Tests; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D013147:Spirometry; D015262:Xenobiotics / Q000009:adverse effects / Q000378:metabolism; D000515:alpha 1-Antitrypsin / Q000235:genetics / Q000378:metabolism
chemical_list: D005819:Genetic Markers; D015262:Xenobiotics; D000515:alpha 1-Antitrypsin