Genome-Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia

被引：1

作者：

Jiang, Lingxi ^{[1
,2
,3
]}

Huang, Lulin ^{[1
,2
,3
]}

Dai, Chao ^{[1
,2
]}

Zheng, Rui ^{[1
,2
]}

Miyake, Masahiro ^{[4
]}

Mori, Yuki ^{[4
]}

Nakao, Shin-ya ^{[4
]}

Morino, Kazuya ^{[4
]}

Ymashiro, Kenji ^{[4
]}

Miao, Yang-Bao ^{[1
,2
]}

Li, Qi ^{[1
,2
]}

Ren, Weiming ^{[1
,2
]}

Ye, Zimeng ^{[5
]}

Li, Hongjing ^{[1
,2
,3
]}

Yang, Zhenglin ^{[1
,2
,3
,6
]}

Shi, Yi ^{[1
,2
,3
]}

机构：

[1] Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, Dept Lab Med, Chengdu 610072, Sichuan, Peoples R China

[2] Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, Chengdu 610072, Sichuan, Peoples R China

[3] Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent, Chinese Acad Med Sci 2019RU026, Chengdu 610072, Sichuan, Peoples R China

[4] Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto 6068501, Japan

[5] Univ Sydney, Sch Med, Camperdown, NSW 2050, Australia

[6] Jinfeng Lab, Chongqing 400000, Peoples R China

来源：

ADVANCED SCIENCE | 2024年 / 11卷 / 40期

关键词：

GWAS; LILRA3; LILRB2; lipid accumulation; pathological myopia; IMMUNOGLOBULIN-LIKE RECEPTORS; SUSCEPTIBILITY LOCUS; CLASS-I; REFRACTIVE ERROR; MAPS; LINKAGE; POPULATION; EXPRESSION; ORGANIZATION; MULTIPLE;

D O I：

10.1002/advs.202308968

中图分类号：

O6 [化学];

学科分类号：

0703 ;

摘要：

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.

引用

页数：16

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