The investigation of the frequency of the alpha-1-antitrypsin phenotype in patients with liver cirrhosis

Horm Mol Biol Clin Investig. 2022 Aug 17;43(4):397-403. doi: 10.1515/hmbci-2022-0001. eCollection 2022 Dec 1.

Abstract

Objectives: Alpha-1-antitrypsin (AAT) has different phenotypes. Evidence suggests that the abundance of each of these phenotypes may be associated with a disease. The purpose of this study was to evaluate the frequency of AAT phenotypes in patients with liver cirrhosis as well as in healthy individuals.

Methods: In this study, 42 patients with liver cirrhosis were selected. The results of the previous research done by the researcher on healthy individuals were used to construct the control group. After obtaining informed consent, 5 mL of fasting venous blood sample was taken, and phenotypes were analyzed by isoelectric focusing. Data were analyzed using Chi-square and Fisher's exact tests at a significant level of 0.05.

Results: The results of this study indicated that all 42 healthy subjects had an MM allele (100%). However, among 42 patients, 35 (83.3%) had an MM allele, 5 (11.9%) had an MS allele, and 2 (4.8%) had MZ allele. The difference between the two groups was significant (p=0.02). There was no difference between men and women in the allele type (p=0.557).

Conclusions: This study revealed that MS and MZ alleles were observed only in patients with liver cirrhosis, and none of these alleles were found in healthy subjects. Therefore, MS and MZ alleles can be further investigated as risk factors for liver cirrhosis.

Keywords: alpha-1-antitrypsin; liver cirrhosis; phenotypes.

MeSH terms

  • Alleles
  • Female
  • Humans
  • Liver Cirrhosis* / genetics
  • Phenotype
  • Risk Factors
  • alpha 1-Antitrypsin / genetics

Substances

  • alpha 1-Antitrypsin