Häggblom Jan, Kettunen Kaisa, Karjalainen Jussi, Heliövaara Markku, Jousilahti Pekka, Saarelainen Seppo
Sastamala Region's Social and Health Services, Sastamala, Finland;
Institute for Molecular Medicine Finland FIMM, Technology Center, University of Helsinki, Helsinki, Finland.
Eur Clin Respir J. 2015 Sep 24;2:28829. doi: 10.3402/ecrj.v2.28829. eCollection 2015.
The prevalence of PIZ and PIS 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 PIM (Malton) has not been studied in Finland before. We determined alpha-1-antitrypsin PIZ and PIS and PIM (Malton) genotypes from a representative population sample. The number of subjects was 6,354 in the PIS and PIM (Malton) genotyping. PIZ genotyping was performed in a subsample of 2,482 subjects. The allele frequencies were PIZ 19.7/1,000 and PIS 10.2/1,000. No PIM (Malton) was found. The number of carriers of PIZ and PIS is significantly higher than previously estimated. The prevalences are in line with the findings in the neighboring countries.
与α-1抗胰蛋白酶缺乏症相关的SERPINA1基因PIZ和PIS等位基因的流行率此前据估计在芬兰低于北欧其他国家。此前芬兰尚未对PIM（马尔顿）的流行率进行研究。我们从一个具有代表性的人群样本中确定了α-1抗胰蛋白酶的PIZ、PIS和PIM（马尔顿）基因型。进行PIS和PIM（马尔顿）基因分型的受试者有6354人。对2482名受试者的子样本进行了PIZ基因分型。等位基因频率为PIZ 19.7/1000和PIS 10.2/1000。未发现PIM（马尔顿）。PIZ和PIS携带者的数量明显高于此前估计。这些流行率与邻国的研究结果一致。
