# Impact of genetic variation in the human leptin gene promoter on metabolic dysfunction-associated steatotic liver disease risk

## TL;DR

This study found that a specific genetic variant in the leptin gene may protect against a liver disease linked to obesity and insulin resistance.

## Contribution

The study is the first to show a potential protective role of the LEP -2548G>A 'GG' genotype against MASLD.

## Key findings

- The LEP -2548G>A 'GG' genotype was less common in MASLD patients than controls.
- The 'GG' genotype was associated with a lower risk of MASLD after adjusting for confounding factors.
- The study suggests the 'GG' genotype may be a protective factor for MASLD.

## Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD), a worldwide
public health challenge with a prevalence of around 25%, is strongly related
to obesity and insulin resistance. The present study investigated the
possible association between MASLD and the leptin gene
(LEP) -2548G>A (rs7799039) polymorphism.

A total of 250 subjects (125 biopsy-proven MASLD patients and 125 controls)
were genotyped for the -2548G>A promoter variant using the PCR-RFLP
technique.

There was no deviation from Hardy-Weinberg equilibrium for
LEP -2548G>A polymorphism in both groups (P >
0.05). A significant association between this gene variant and MASLD was
found. The LEP -2548G>A “GG” genotype compared with
‘‘AA+AG’’ genotype was underrepresented in the MASLD patients than controls,
even after adjustment for confounding factors (P = 0.016;
OR = 0.42, 95% CI = 0.40-0.83).

For the first time, our findings demonstrated that the “GG” genotype of
LEP -2548G>A gene variant can be a potential
protective factor for MASLD. Further studies in other populations, however,
are required to support this finding.