Genome‐Wide Association Analysis Identifies <i>LILRB2</i> Gene for Pathological Myopia-Reference-Cited by-同舟云学术

Genome‐Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia

Published:2024-08-29 Issue: Volume: Page:
ISSN:2198-3844
Container-title:Advanced Science
language:en
Short-container-title:Advanced Science

Author:

Jiang Lingxi¹²,Huang Lulin¹²,Dai Chao¹,Zheng Rui¹,Miyake Masahiro³,Mori Yuki³,Nakao Shin‐ya³,Morino Kazuya³,Ymashiro Kenji³,Miao Yang‐Bao¹,Li Qi¹,Ren Weiming¹,Ye Zimeng⁴,Li Hongjing¹²,Yang Zhenglin¹²⁵,Shi Yi¹²^ORCID

Affiliation:

1. Sichuan 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

2. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026) Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital Chengdu Sichuan 610072 China

3. Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine Kyoto 606‐8501 Japan

4. School of Medicine University of Sydney Camperdown NSW 2050 Australia

5. Jinfeng Laboratory, Chongqing, China Chongqing 400000 China

Abstract

AbstractPathological myopia (PM) is one of the leading causes of blindness, especially in Asia. To identify the genetic risk factors of PM, a two‐stage genome‐wide association study (GWAS) and replication analysis in East Asian populations is conducted. The analysis identified LILRB2 in 19q13.42 as a new candidate locus for PM. The increased protein expression of LILRB2/Pirb (mouse orthologous protein) in PM patients and myopia mouse models is validated. It is further revealed that the increase in LILRB2/Pirb promoted fatty acid synthesis and lipid accumulation, leading to the destruction of choroidal function and the development of PM. This study revealed the association between LILRB2 and PM, uncovering the molecular mechanism of lipid metabolism disorders leading to the pathogenesis of PM due to LILRB2 upregulation.

Funder

National Natural Science Foundation of China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/advs.202308968

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