Genome‐Wide Association Analysis Identifies <i>LILRB2</i> Gene for Pathological Myopia
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.
Authors
- Kazuya Morino (ORCID: https://orcid.org/0000-0002-1449-7463)
- Lingxi Jiang (ORCID: https://orcid.org/0000-0001-6037-6972)
- Weiming Ren
- Shinya Nakao (ORCID: https://orcid.org/0000-0001-7728-5217)
- Lulin Huang (ORCID: https://orcid.org/0000-0002-1204-5957)
- Masahiro Miyake (ORCID: https://orcid.org/0000-0001-7410-3764)
- Zimeng Ye (ORCID: https://orcid.org/0000-0002-5578-9374)
- Zhenglin Yang (ORCID: https://orcid.org/0000-0003-4617-1422)
- Yang‐Bao Miao (ORCID: https://orcid.org/0000-0001-7705-8567)
- Qi Li (ORCID: https://orcid.org/0000-0002-0163-9987)
- Rui Zheng
- Yi Shi (ORCID: https://orcid.org/0000-0002-0386-9022)
- Hongjing Li (ORCID: https://orcid.org/0000-0002-7094-2680)
- Yuki Mori (ORCID: https://orcid.org/0000-0003-0015-9188)
- Kenji Ymashiro
- Chao Dai (ORCID: https://orcid.org/0009-0003-6435-8706)
Institutions
- The University of Sydney (AU)
- University of Electronic Science and Technology of China (CN)
- Chongqing University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Kyoto University (JP)
- Cooperative Trials Group for Neuro-Oncology (AU)
- Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (CN)
Publication Details
- Journal
- Advanced Science
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1002/advs.202308968
- Citations
- 8
- Primary Topic
- Pelvic floor disorders treatments
- Type
- article
- Field-Weighted Citation Impact
- 3.76
Funders
- National Natural Science Foundation of China
- Department of Science and Technology of Sichuan Province