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Alpha-1-antitrypsin phenotypes in adult liver disease patients

Aleksandra Topic1, Tamara Alempijevic, Aleksandra Sokic Milutinovic

  • 1Institute of Medical Biochemistry, Faculty of Pharmacy, University of Belgrade, Belgrade, Serbia. atopic@pharmacy.bg.ac.rs

Upsala Journal of Medical Sciences
|December 8, 2009
PubMed

Insights

Alpha-1-antitrypsin deficiency (AATD) is linked to liver disease in adults. The study found that individuals with Pi ZZ homozygosity have a higher risk of severe liver disease, suggesting a need for further investigation into AAT gene polymorphisms.

Area of Science:

  • Genetics
  • Hepatology
  • Internal Medicine

Background:

  • Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder impacting the lungs and liver.
  • While AATD-related liver disease is documented in children, its association with AAT gene polymorphisms in adults remains less understood.

Purpose of the Study:

  • To investigate the association between alpha-1-antitrypsin gene polymorphisms and liver disease in an adult population.
  • To clarify the role of specific AAT genotypes in the development of adult liver conditions.

Main Methods:

  • A case-control study was conducted involving 61 patients with liver cirrhosis or hepatocellular carcinoma and 218 healthy controls.
  • Alpha-1-antitrypsin (AAT) polymorphisms were analyzed using isoelectric focusing.

Main Results:

  • A significant deviation from Hardy-Weinberg equilibrium was observed in the patient group, primarily due to an increased frequency of Pi ZZ homozygotes.
  • Pi ZZ homozygosity was found to be significantly associated with severe liver disease in adults (P = 0.000).
  • Pi M homozygotes were more prevalent in patients with liver disease compared to controls (63% vs. 46%, P = 0.025).

Conclusions:

  • Pi ZZ homozygosity in adults may be associated with the development of severe liver disease.
  • The increased frequency of Pi M homozygotes in liver disease patients suggests a potential, distinct mechanism of liver damage unrelated to Z allele-induced polymer accumulation.

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