Evidence map›Paper›PMID 41749353›Full record

ArticleJournal of translational medicine2026

Programmed cell death and risk of diabetic retinopathy: a Mendelian randomization study.

Yingying Chen, Hanyi Xu, Hengguang Wei, Rupeng Zhao, Yufen Tan, Huiying Lin, Na Li

Abstract read
In one paragraph

Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Yingying ChenDepartment of Ophthalmology, Guangxi Hospital Division of the First Affiliated Hospital, Sun Yat-sen University, No. 3, Foziling Road, Qingxiu District, Nanning City, Guangxi, China. chenyingying@stu.gxmu.edu.cn.ORCID 0000-0002-9317-9155
Hanyi XuGraduate School of Guangxi Medical University, Nanning, China.
Hengguang WeiDepartment of Ophthalmology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Rupeng ZhaoState Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Life Science and Technology, Guangxi University, Nanning, China.
Yufen TanThe Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Huiying LinFujian Medical University Union Hospital, Fujian, Fuzhou, China.
Na LiGraduate School of Guangxi Medical University, Nanning, China.

Funding

National College Students Innovation and Entrepreneurship Training Program 202010598003NSFC cultivation project of The Second Affiliated Hospital of Guangxi Medical University No. GJPY2018003Scientific Research and Technology Development Program of Guangxi Zhuang Autonomous Region No. Z-A20240670
6 · The paper itself

Abstract

backgroundProgrammed cell death (PCD) plays an important role in diabetic retinopathy (DR); however, the underlying genetic mechanisms remain unclear. We used Mendelian randomization (MR) to investigate the causal relationships between PCD-related genes and DR. This study aimed to investigate the effects of PCD on the risk of DR by conducting MR analysis.

methodsSummary statistics from gene expression quantitative trait loci (eQTL) studies (31,684 Europeans) were analyzed. Genetic instrumental variables were selected using cis-eQTL single-nucleotide polymorphisms (SNPs; P < 5 × 10

resultsSensitivity and colocalization analyses revealed six genes that affected DR: cathepsin H (CTSH), NAD(P)H: quinone oxidoreductase 1 (NQO1), tribbles pseudokinase 3 (TRIB3), and phosphoglycerate mutase 5 (PGAM5), which increased DR risk, and iron-responsive element binding protein 2 (IREB2) and tumor necrosis factor (TNF), which exhibited protective effects. Multivariate MR confirmed significant causal effects for CTSH, IREB2, and PGAM5 (p < 0.050). Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis (including 10 STRING-derived genes) revealed that 13 genes were enriched in necroptosis, apoptosis, mitophagy, and TNF signaling pathways in DR.

conclusionsThis MR study supports the causal involvement of PCD in DR and identifies candidate genes (CTSH, IREB2, PGAM5, NQO1, TRIB3, and TNF) for therapeutic targeting or biomarker development in DR prevention or diagnosis.

Indexed as

ApoptosisDiabetic RetinopathyGenetic Predisposition to DiseaseMendelian Randomization AnalysisBayes TheoremHumansPolymorphism, Single NucleotideQuantitative Trait LociRisk FactorsDiabetic retinopathyMendelian randomizationProgrammed cell death

Identifiers

PMID41749353
PMCPMC13041394

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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.