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全基因组关联分析鉴定病理性近视相关的 LILRB2 基因

Genome-Wide Association Analysis Identifies LILRB2 Gene for Pathological Myopia.

机构信息

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.

出版信息

Adv Sci (Weinh). 2024 Oct;11(40):e2308968. doi: 10.1002/advs.202308968. Epub 2024 Aug 29.

DOI:10.1002/advs.202308968
PMID:39207058
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11516067/
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.

摘要

病理性近视（PM）是导致失明的主要原因之一，尤其在亚洲。为了确定 PM 的遗传风险因素，在东亚人群中进行了两阶段全基因组关联研究（GWAS）和复制分析。分析在 19q13.42 鉴定出 LILRB2 是 PM 的新候选基因座。PM 患者和近视小鼠模型中 LILRB2/Pirb（小鼠同源蛋白）的蛋白表达增加得到了验证。进一步揭示，LILRB2/Pirb 的增加促进了脂肪酸的合成和脂质的积累，导致脉络膜功能的破坏和 PM 的发展。这项研究揭示了 LILRB2 与 PM 之间的关联，揭示了由于 LILRB2 的上调导致脂质代谢紊乱从而引发 PM 的发病机制的分子机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/a96298064192/ADVS-11-2308968-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/05ecc0d349d8/ADVS-11-2308968-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/1773a0354135/ADVS-11-2308968-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/157d69d083f5/ADVS-11-2308968-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/f86116028870/ADVS-11-2308968-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/9063d5c74ca6/ADVS-11-2308968-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/168136a018e0/ADVS-11-2308968-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/a96298064192/ADVS-11-2308968-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/05ecc0d349d8/ADVS-11-2308968-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/1773a0354135/ADVS-11-2308968-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/157d69d083f5/ADVS-11-2308968-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/f86116028870/ADVS-11-2308968-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/9063d5c74ca6/ADVS-11-2308968-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/168136a018e0/ADVS-11-2308968-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b92/11516067/a96298064192/ADVS-11-2308968-g008.jpg

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