期刊
EUROPEAN CLINICAL RESPIRATORY JOURNAL
卷 2, 期 1, 页码 -出版社
TAYLOR & FRANCIS LTD
DOI: 10.3402/ecrj.v2.28829
关键词
alpha-1-antitrypsin deficiency; Europe; Finland; genetic epidemiology; PI*Z; PI*S; PI*M (Malton); prevalence; SERPINA1
资金
- Tampere Tuberculosis Foundation
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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