Evidence map›Paper›PMID 40110489›Full record

ArticleGenes & diseases2025

The genomic and epigenomic landscape of iridocorneal endothelial syndrome.

Yaoming Liu, Gen Li, Jiaxuan Jiang, Sujie Fan, Lan Lu, Ting Wang, Guigang Li, Wenzong Zhou, Xuequn Liu, Yingjie Li and 26 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors.

Yaoming LiuState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Gen LiGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Jiaxuan JiangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Sujie FanEye Hospital (The Third Hospital of Handan), Handan, Hebei 056000, China.
Lan LuDepartment of Ophthalmology, Department of Ophthalmology & Optometry, Fujian Medical University, Fuzhou, Fujian 350004, China.
Ting WangEye Hospital of Shandong First Medical University, State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Science, Jinan, Shandong 250000, China.
Guigang LiDepartment of Ophthalmology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
Wenzong ZhouCangzhou Aier Eye Hospital, Cangzhou, Hebei 061000, China.
Xuequn LiuNangchang Aier Eye Hospital, Nanchang, Jiangxi 330002, China.
Yingjie LiThe Third Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330008, China.
Hong SunThe First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
Liang LiangDepartment of Ophthalmology, Yichang Central People's Hospital, The First College of Clinical Medical Science, China Three Gorges University, Yichang, Hubei 443003, China.
Yuhong TangKunming Huashan Eye Hospital, Kunming, Yunnan 650032, China.
Yang ChenState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Jianjun GuState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Fei LiState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Xiuli FangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Tao SunAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology and Visual Science, Nanchang, Jiangxi 330006, China.
Aiguo LvEye Hospital (The Third Hospital of Handan), Handan, Hebei 056000, China.
Yayi WangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Peiyuan WangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Tao WenState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Jiayu DengState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Yuhong LiuState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Mingying LaiShenzhen Eye Hospital, Shenzhen, Guangdong 518000, China.
Jingni YuDepartment of Ophthalmology, Xi'an Fourth Hospital, Xi'an, Shaanxi 710004, China.
Danyan LiuDepartment of Ophthalmology, Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, China.
Hua WangEye Center of Xiangya Hospital, Central South University, Hunan Key Laboratory of Ophthalmology, Changsha, Hunan 410008, China.
Meizhu ChenDepartment of Ophthalmology, The 900th Hospital of Joint Logistic Support Force, PLA (Clinical Medical College of Fujian Medical University, Dongfang Hospital Affiliated to Xiamen University), Fuzhou, Fujian 350025, China.
Li LiDepartment of Ophthalmology, The People's Hospital Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, China.
Xiaodan HuangEye Center, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310009, China.
Jingming ShiThe Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, China.
Xu ZhangAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology and Visual Science, Nanchang, Jiangxi 330006, China.
Kang ZhangGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Lingyi LiangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.
Xiulan ZhangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong 510060, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding eye disease with an unknown etiology. Understanding its genomic and epigenomic landscape could aid in developing etiology-based therapies. In this study, we recruited 99 ICE patients and performed whole-genome sequencing (WGS) on 51 and genome-wide DNA methylation profiling on 48 of them. We conducted mutational burden testing on genes and noncoding regulatory regions, comparing the ICE cohort with control groups (9197 East Asians from the gnomAD database and 350 normal Chinese from our in-house cohort). Copy number variation (CNV) analysis and differential methylation of regions were also explored. We identified RP1L1 (27/51, 53%) with a significantly higher coding-altering mutational burden in the ICE cohort (p < 8.3×10

Indexed as

Copy number varianceDNA methylationEtiologyIridocorneal endothelial syndromeWhole-genome sequencing

Identifiers

PMID40110489
PMCPMC11919576

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.