1. Genome‐Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia
- Author
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Lingxi Jiang, Lulin Huang, Chao Dai, Rui Zheng, Masahiro Miyake, Yuki Mori, Shin‐ya Nakao, Kazuya Morino, Kenji Ymashiro, Yang‐Bao Miao, Qi Li, Weiming Ren, Zimeng Ye, Hongjing Li, Zhenglin Yang, and Yi Shi
- Subjects
GWAS ,LILRA3 ,LILRB2 ,lipid accumulation ,pathological myopia ,Science - Abstract
Abstract Pathological 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.
- Published
- 2024
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