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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Meta-Analysis: Redefining Liver Disease Risk in Heterozygous Alpha-1 Antitrypsin Deficiency.

Adam M Syanda1,2, Dimitra Georgantaki1, Riona T T Linn3

  • 1Department of Metabolism, Digestion and Reproduction, Faculty of Medicine, Imperial College London, London, UK.

Alimentary Pharmacology & Therapeutics
|July 12, 2026
PubMed
Summary

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Heterozygous SERPINA1 genotypes (MZ, SZ) are linked to increased liver disease risk, including fibrosis and cirrhosis. These genetic variants should be considered in chronic liver disease assessments.

Area of Science:

  • Genetics and Hepatology
  • Molecular Medicine
  • Disease Risk Factors

Background:

  • Historically, heterozygous SERPINA1 genotypes (MZ, SZ) were considered benign carrier states.
  • Emerging evidence suggests a potential link between these genotypes and liver injury, but the risk magnitude is unclear.

Purpose of the Study:

  • To synthesize evidence on liver phenotypes associated with heterozygous SERPINA1 genotypes (MZ, SZ).
  • To quantify the risk of liver injury in individuals with these genotypes.

Main Methods:

  • A systematic review of bibliographic databases was conducted.
  • Studies reporting liver outcomes in MZ or SZ genotypes were included.
  • Random-effects meta-analyses were used to pool data on metabolic comorbidities, biochemical markers, and clinical liver disease.
Keywords:
A1ATDSERPINA1alpha‐1 antitrypsin deficiencyheterozygous MZheterozygous SZliver cirrhosisliver diseaseliver fibrosismeta‐analysissteatosis

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Main Results:

  • Twenty-six studies with 27,933 heterozygotes and 547,961 controls were analyzed.
  • Heterozygotes showed modestly elevated liver enzymes (ALT, AST, ALP) and increased odds of abnormal liver function tests.
  • Significantly higher odds of fibrosis, cirrhosis, and liver transplantation were observed in heterozygotes.

Conclusions:

  • Heterozygous SERPINA1 genotypes represent significant risk factors for liver disease.
  • These genotypes are associated with moderate-penetrance liver susceptibility, comparable to other known risk factors.
  • MZ/SZ heterozygosity warrants recognition in chronic liver disease risk assessment.