Heterozygous α1-antitrypsin phenotypes in patients with end stage liver disease

Marsha L. Eigenbrodt, Timothy M. McCashland, Robert M. Dy, James Clark, Joseph Galati

Research output: Contribution to journalArticlepeer-review

53 Scopus citations


Objective: The objective of the study was to determine the prevalence and associations of abnormal α1-antitrypsin phenotypes in Caucasian adults with end stage liver disease with particular emphasis on heterozygous phenotypes and disease from hepatitis C virus. Methods: All patients (788) with end stage liver disease considered for liver transplantation from July 1990 to June 1996 in a referral-based university hospital transplant center (University of Nebraska Medical Center, Omaha, NE) comprised the study population. Data for the study population was determined by retrospective review of the transplantation database at the transplant center. Hepatitis C virus infection was determined by a second generation ELISA method, and α1- antitrypsin phenotyping was performed on agarose gel with serum quantitation using a Behring Nephelometer. Results: Among 683 Caucasian patients with severe liver disease, the prevalences of Pi ZZ, Pi MZ, and Pi MS were 0.4, 7.3, and 8.2%, respectively, compared with 0, 2.8, and 4.2% in the control population. The odds of having a heterozygous Z phenotype were significantly increased in Caucasian patients with hepatitis C virus (odds ratio (OR) = 4.3, 95% confidence interval (CI) = 2.1-9.0), alcoholic liver disease (OR = 5.0, 95% CI = 2.6-9.6), primary hepatic malignancy (OR = 7.4, 95% CI = 2.9- 19.0), and cryptogenic cirrhosis (OR = 2.6, 95% CI = 1.1-6.3) compared with the control population. Caucasian patients with hepatitis C or B virus were 3.6 times more likely to have a heterozygous Z phenotype than a normal phenotype compared with patients with diseases of autoimmune etiology. Conclusion: This study provides evidence of an association of heterozygous Z α1-antitrypsin phenotype with end stage liver disease of several etiologies, not hepatitis C virus alone.

Original languageEnglish (US)
Pages (from-to)602-607
Number of pages6
JournalAmerican Journal of Gastroenterology
Issue number4
StatePublished - Apr 1997

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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