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Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

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Related Experiment Video

Updated: Jul 24, 2025

Experimental Approach to Examine Leptin Signaling in the Carotid Bodies and its Effects on Control of Breathing

Experimental Approach to Examine Leptin Signaling in the Carotid Bodies and its Effects on Control of Breathing

Published on: October 25, 2019

Association between leptin and NAFLD: a two-sample Mendelian randomization study.

Ziwei Guo^1,2, Hongbo Du^1,3, Yi Guo^1,3

¹Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, 100700, China.

European Journal of Medical Research

|July 3, 2023

Summary

This summary is machine-generated.

This study found that higher leptin levels are causally linked to a reduced risk of nonalcoholic fatty liver disease (NAFLD). Leptin may act as a protective factor against NAFLD development.

Keywords:

Causal effect Leptin Nonalcoholic fatty liver disease Two-sample Mendelian randomization

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Last Updated: Jul 24, 2025

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Published on: October 25, 2019

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Fat Preference: A Novel Model of Eating Behavior in Rats

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Published on: June 27, 2014

Area of Science:

Genetics
Metabolic Diseases
Endocrinology

Background:

Nonalcoholic fatty liver disease (NAFLD) etiology involves complex genetic and environmental interactions.
Observational studies suggest higher leptin levels correlate with lower NAFLD risk, but causality is unproven.

Purpose of the Study:

To investigate the causal effect between leptin and NAFLD using Mendelian randomization (MR).

Main Methods:

Two-sample Mendelian randomization (TSMR) analysis using GWAS data for leptin and NAFLD in a European population.
Selection of instrumental variables (IVs) meeting MR core assumptions.
Application of inverse variance weighted (IVW), MR-Egger, and weighted median (WM) methods, with heterogeneity and sensitivity analyses.

Main Results:

TSMR analysis indicated a causal link between higher leptin levels and a lower risk of NAFLD (e.g., IVW OR=0.6729, P=0.0142).
Results remained consistent after adjusting for body mass index (BMI), further supporting leptin's protective role (e.g., IVW OR=0.5876, P=0.0181).

Conclusions:

This study provides genetic evidence supporting a causal relationship where elevated leptin levels are associated with a reduced risk of NAFLD.
Further research is needed to elucidate the specific mechanisms underlying leptin's protective effect against NAFLD.