title: [Genetic variants of alpha-1 antitrypsin: classification and clinical implications].
abstract: Inherited alpha-1 antitrypsin deficiency is listed among the three most common genetic disorders in Caucasians. It considerably  increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease, as well as  chronic liver disorders, hepatitis, cirrhosis, and cancer. It is estimated that more than 5.5% of the Polish population carries  one of the most common deficiency phenotypes, which might be relatively easily detected due to low alpha-1 antitrypsin  serum concentration. However, as well as being quantitative, alpha-1 antitrypsin deficiency might also be qualitative. These  dysfunctional alpha-1 antitrypsin variants are characterized by scarce antiproteolytic activity and quite often by fully effective  protein production resulting in normal serum levels. Consequently, dysfunctional variant identification is possible only by  means of pheno- or genotyping. This review presents clinically useful characteristics of main genetic alpha-1 antitrypsin  variants.
authors.affiliation: Samodzielna Pracownia Diagnostyki Molekularnej i Immunologii, Instytut Gruźlicy i Chorób Płuc w Warszawie.
authors.forename: Beata
authors.initials: B
authors.lastname: Popławska
authors.forename: Sabina
authors.initials: S
authors.lastname: Janciauskiene
authors.forename: Joanna
authors.initials: J
authors.lastname: Chorostowska-Wynimko
mesh_terms: D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D010641:Phenotype; D011044:Poland; D015995:Prevalence; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics; D044465:White People / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000145:classification* / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000145:classification* / Q000208:ethnology / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin