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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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
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author Häggblom, Jan
Kettunen, Kaisa
Karjalainen, Jussi
Heliövaara, Markku
Jousilahti, Pekka
Saarelainen, Seppo
author_facet Häggblom, Jan
Kettunen, Kaisa
Karjalainen, Jussi
Heliövaara, Markku
Jousilahti, Pekka
Saarelainen, Seppo
author_sort Häggblom, Jan
collection PubMed
description 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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spelling pubmed-46532802015-12-11 Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland Häggblom, Jan Kettunen, Kaisa Karjalainen, Jussi Heliövaara, Markku Jousilahti, Pekka Saarelainen, Seppo Eur Clin Respir J Original Research Article 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. Co-Action Publishing 2015-09-24 /pmc/articles/PMC4653280/ /pubmed/26672964 http://dx.doi.org/10.3402/ecrj.v2.28829 Text en © 2015 Jan Häggblom et al. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for any purpose, even commercially, provided the original work is properly cited and states its license.
spellingShingle Original Research Article
Häggblom, Jan
Kettunen, Kaisa
Karjalainen, Jussi
Heliövaara, Markku
Jousilahti, Pekka
Saarelainen, Seppo
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title_full Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title_fullStr Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title_full_unstemmed Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title_short Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
title_sort prevalence of pi*z and pi*s alleles of alpha-1-antitrypsin deficiency in finland
topic Original Research Article
url 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
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