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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Genome-Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia.

Lingxi Jiang^1,2, Lulin Huang^1,2, Chao Dai¹

¹Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, 610072, China.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

|August 29, 2024

Summary

Genetic factors for pathological myopia (PM), a leading cause of blindness, were identified. Increased LILRB2 protein expression promotes lipid accumulation, damaging the choroid and causing PM.

Keywords:

GWAS LILRA3 LILRB2 lipid accumulation pathological myopia

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Pathological myopia (PM) is a major cause of irreversible blindness globally, particularly in Asian populations.
Identifying genetic risk factors is crucial for understanding PM pathogenesis and developing targeted therapies.

Purpose of the Study:

To identify novel genetic loci associated with pathological myopia (PM) in East Asian populations.
To elucidate the molecular mechanisms underlying LILRB2's role in PM development.

Main Methods:

A two-stage genome-wide association study (GWAS) was performed in East Asian cohorts.
Replication analysis was conducted to validate candidate genetic loci.
Protein expression levels of LILRB2 and its mouse ortholog Pirb were assessed in patients and animal models.
Molecular mechanisms involving lipid metabolism were investigated.

Main Results:

A novel candidate locus, LILRB2 at 19q13.42, was identified for PM.
Increased LILRB2/Pirb protein expression was observed in PM patients and myopia mouse models.
Upregulated LILRB2/Pirb was found to promote fatty acid synthesis and lipid accumulation.
This lipid dysregulation led to choroidal dysfunction and PM development.

Conclusions:

LILRB2 is a newly identified genetic risk factor for pathological myopia.
LILRB2 upregulation contributes to PM pathogenesis by disrupting lipid metabolism and damaging choroidal function.