Genome‐Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia
Source abstract
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.
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Research context
OpenAlex topics: Pelvic floor disorders treatments · Corneal surgery and disorders · Ophthalmology and Visual Impairment Studies
SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.
Affiliations
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
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
Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine Kyoto 606‐8501 Japan
School of Medicine University of Sydney Camperdown NSW 2050 Australia
Jinfeng Laboratory, Chongqing, China Chongqing 400000 China
Funding
National Natural Science Foundation of China
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