[Distribution of alpha1-antitrypsin phenotypes in Icelanders.]

Area of Science:

• Genetics
• Biochemistry
• Population Studies

Context:

• Alpha1-antitrypsin deficiency (AATD) is a genetic disorder common in Northern Europeans due to Z and S alleles.
• Despite high allele frequencies elsewhere, AATD has not been documented in Icelandic patients.
• Understanding allele frequencies is crucial for assessing genetic disease risk in specific populations.

Purpose:

• To determine the frequency of major alpha1-antitrypsin (AAT) phenotypes (M, F, S, Z) in the Icelandic population.
• To quantify the prevalence of AAT deficiency alleles (S and Z) in Iceland.
• To compare Icelandic AAT allele frequencies with those of other Nordic countries.

Summary:

• This study analyzed 511 unrelated Icelandic individuals using isoelectric focusing.
• The determined allele frequencies were M = 0.946, F = 0.006, S = 0.037, and Z = 0.011.
• The findings indicate the presence of AAT deficiency alleles in Iceland, albeit at lower frequencies than observed in neighboring Nordic populations.

Impact:

• Provides baseline data on AAT allele frequencies in Iceland.
• Contributes to the understanding of AATD genetic epidemiology in Northern Europe.
• Informs future research and clinical considerations for AATD in the Icelandic population.