title: Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland.
abstract: The prevalence of PI*Z and PI*S alleles of SERPINA1 gene related to alpha-1-antitrypsin deficiency has previously been estimated to be lower in Finland than in the other countries of Northern Europe. The prevalence of PI*M (Malton) has not been studied in Finland before. We determined alpha-1-antitrypsin PI*Z and PI*S and PI*M (Malton) genotypes from a representative population sample. The number of subjects was 6,354 in the PI*S and PI*M (Malton) genotyping. PI*Z genotyping was performed in a subsample of 2,482 subjects. The allele frequencies were PI*Z 19.7/1,000 and PI*S 10.2/1,000. No PI*M (Malton) was found. The number of carriers of PI*Z and PI*S is significantly higher than previously estimated. The prevalences are in line with the findings in the neighboring countries.
authors.affiliation: Sastamala Region's Social and Health Services, Sastamala, Finland; jan-ole.haggblom@sastamala.fi.
authors.forename: Jan
authors.initials: J
authors.lastname: Häggblom
authors.affiliation: Institute for Molecular Medicine Finland FIMM, Technology Center, University of Helsinki, Helsinki, Finland.
authors.forename: Kaisa
authors.initials: K
authors.lastname: Kettunen
authors.affiliation: Allergy Centre, Tampere University Hospital, Tampere, Finland.
authors.forename: Jussi
authors.initials: J
authors.lastname: Karjalainen
authors.affiliation: Department of Health, National Institute of Health and Welfare, Helsinki, Finland.
authors.forename: Markku
authors.initials: M
authors.lastname: Heliövaara
authors.affiliation: Department of Health, National Institute of Health and Welfare, Helsinki, Finland.
authors.forename: Pekka
authors.initials: P
authors.lastname: Jousilahti
authors.affiliation: Department of Respiratory Medicine, Tampere University Hospital, Tampere, Finland.
authors.forename: Seppo
authors.initials: S
authors.lastname: Saarelainen
keywords: Europe; Finland; PI*M (Malton); PI*S; PI*Z; SERPINA1; alpha-1-antitrypsin deficiency; genetic epidemiology; prevalence