机构：[1]Department of Ophthalmology, Eye Disease and Optometry Institute, Peking University People's Hospital, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.[3]Parkway Health Hongqiao Medical Center, Shanghai, China.
To identify a novel corticotropin-releasing hormone (CRH) gene variant relevant in patients with central serous chorioretinopathy (CSC).We performed a genetic study of CSC in families and sporadic cases with controls. Using whole-exome sequencing and linkage analysis, we identified a heterozygous insertion variant, Gln52insPro, in the CRH gene that cosegregated in two Chinese families with CSC. This variant was evaluated among an additional 1307 patients with CSC and 1438 ethnicity-matched control individuals from three independent Chinese cohorts.The CRH variant was strongly associated with CSC in these cohorts of Chinese patients (Pmeta = 1.24 × 10-11; odds ratio, 3.01; 95% confidence interval, 2.15-4.21). The risk variant Gln52insPro decreased CRH gene expression.Our results implicate the hypothalamic-pituitary-adrenal stress response system in the pathogenesis of CSC and provide a novel rationale for therapeutic intervention.
基金：
Supported by the National Natural Science Foundation of China
No. 81470651 (M.W.Z.), 81470649 (L.Z.H) and 81200669 (P.Z.).
The sponsor or funding organizations had no role in the design
or performance of this study
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2021]版：
大类|2 区医学
小类|2 区眼科学
最新[2023]版：
大类|2 区医学
小类|2 区眼科学
第一作者：
第一作者机构：[1]Department of Ophthalmology, Eye Disease and Optometry Institute, Peking University People's Hospital, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.
通讯作者：
通讯机构：[1]Department of Ophthalmology, Eye Disease and Optometry Institute, Peking University People's Hospital, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.[3]Parkway Health Hongqiao Medical Center, Shanghai, China.[*1]Department of Ophthalmology, Eye Disease and Optometry Institute, Peking University People’s Hospital, Beijing, China , Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China , Xizhimen South Street 11, Xi Cheng District, Beijing 100044, China[*2]Parkway Health Hongqiao Medical Center, 2258 Hongqiao Rd., Shanghai 200336, China
推荐引用方式(GB/T 7714)：
Jin En-Zhong,Li Tian-Qi,Ren Chi,et al.An Insertion Variant in CRH Confers an Increased Risk of Central Serous Chorioretinopathy[J].Investigative ophthalmology & visual science.2022,63(9):9.doi:10.1167/iovs.63.9.9.
APA：
Jin En-Zhong,Li Tian-Qi,Ren Chi,Zhu Li,Du Wei...&Zhao Ming-Wei.(2022).An Insertion Variant in CRH Confers an Increased Risk of Central Serous Chorioretinopathy.Investigative ophthalmology & visual science,63,(9)
MLA：
Jin En-Zhong,et al."An Insertion Variant in CRH Confers an Increased Risk of Central Serous Chorioretinopathy".Investigative ophthalmology & visual science 63..9(2022):9
医学