Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland

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-antitr...

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Detalles Bibliográficos
Autores principales: Häggblom, Jan, Kettunen, Kaisa, Karjalainen, Jussi, Heliövaara, Markku, Jousilahti, Pekka, Saarelainen, Seppo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Co-Action Publishing 2015
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653280/
https://www.ncbi.nlm.nih.gov/pubmed/26672964
http://dx.doi.org/10.3402/ecrj.v2.28829
Descripción
Sumario: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.

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