Does AMY1 copy number correlate with metabolic-associated fatty liver disease?

Lange Maria G.; Graham Caine; David Burnett; Lalor Patricia F.; Barber Thomas M.

doi:10.1530/endoabs.109.P129

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Endocrine Abstracts (2025) 109 P129 | DOI: 10.1530/endoabs.109.P129

SFEBES2025 Poster Presentations Metabolism, Obesity and Diabetes (68 abstracts)

Does AMY1 copy number correlate with metabolic-associated fatty liver disease?

Maria G. Lange ^1,2 , Graham Caine ³ , David Burnett ⁴ , Patricia F. Lalor ³ & Thomas M. Barber ^1,2

Author affiliations

¹Warwick Medical School, University of Warwick, Coventry, United Kingdom; ²Warwickshire Institute for the Study of Diabetes Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry, United Kingdom; ³Centre for Liver and Gastroenterology Research, School of Infection, Inflammation and Immunology, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom; ⁴Micropathology Ltd, University of Warwick Science Park, Coventry, United Kingdom

Background: Metabolic-associated fatty liver disease (MAFLD) is the hepatic manifestation of metabolic syndrome. MAFLD’s most severe form is metabolic dysfunction-associated steatohepatitis (MASH). The current gold standard for identifying MASH is histological assessment via invasive liver biopsy. Non-invasive biomarkers are urgently needed to facilitate diagnosis. Genome wide association studies identified copy number (CN) variants in the salivary amylase gene AMY1 as influencing metabolic phenotypes. Low CN levels associate with increased BMI and visceral adipose tissue, whereas high CN levels associate with a favourable metabolic profile. Our aim was to explore correlation between hepatic AMY1 CN and MASH. Through establishing an association, AMY1 CN extracted from non-invasive salivary samples could be used as a risk stratification biomarker in MAFLD.

Method: Liver tissue samples and anonymized patient demographic data, were collected from patients transplanted for MASH cirrhosis and donor liver specimens not used for transplantation collected at the Queen Elizabeth Hospital in Birmingham. Deoxyribonucleic acid was extracted from MASH (n = 26) and healthy donor livers (n = 26), and assessed for hepatic AMY1 CN by droplet digital polymerase chain reaction.

Results: The baseline characteristics of the two populations revealed a difference in mean age, prevalence of diabetes, bilirubin (umol/l) and ALT (iu/l)(P < 0.05), but no difference in body mass index and sex distribution(P > 0.05). The mean AMY1 copy number in the MASH cohort was 7.04±2.85 and in the donor cohort was 6.70±2.26. The difference in CN was not significant (P = 0.63).

Conclusion: Our a priori hypothesis, of a correlation between AMY1 CN and MAFLD severity is not supported by the data from our in vitro study. The relatively low number of liver samples included limits any firm conclusions. Future studies should explore with greater power any evidence for a biological causal pathway that implicates AMY1 CN variance in the pathogenesis of MAFLD.