Evidence map›Paper›PMID 42523773›Full record

ArticleInternational journal of ophthalmology2026

Systematic genomic Mendelian randomization profiling of early molecular markers of optic atrophy.

Jun-Zhao Yang, Yan-Ting Liu, Xin-Sen Liu, Yu-Ting Wu, Dan-Lin Zhi, Xiao-Wen Zhu, Yong-Hong Zhang

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Article in International journal of ophthalmology, 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

What it found

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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.

Jun-Zhao YangDepartment of Ophthalmology, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang 421001, Hunan Province, China.
Yan-Ting LiuDepartment of Ophthalmology, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang 421001, Hunan Province, China.
Xin-Sen LiuDepartment of Gastrointestinal Surgery, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang 421001, Hunan Province, China.
Yu-Ting WuDepartment of Ophthalmology, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang 421001, Hunan Province, China.
Dan-Lin ZhiDepartment of Ophthalmology, The First Affiliated Hospital of Nanhua University, Hengyang 421005, Hunan Province, China.
Xiao-Wen ZhuDepartment of Ophthalmology, The First Affiliated Hospital of Nanhua University, Hengyang 421005, Hunan Province, China.
Yong-Hong ZhangDepartment of Ophthalmology, The Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang 421001, Hunan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo identify early molecular diagnostic biomarkers for optic atrophy (OPA) and explore potential mechanisms mediated by proteins.

methodsGene expression data was sourced from eQTLGen (31 684 samples; 19 960 genes). The OPA discovery cohort came from FinnGen (629 cases; 496 621 controls); the validation cohort came from the genome-wide association studies (GWAS) catalog (58 cases; 496 621 controls). Protein data for mediation analysis was obtained from the deCODE Genetics consortium (35 559 samples; 4907 proteins). Causal estimates were derived using two-sample Mendelian randomization (MR). Inverse-variance weighted (IVW) was the primary analysis method. Sensitivity analyses included MR-Egger intercept, Cochran's

resultsMulti-cohort validation revealed that increased expression levels of the SEC61A2 and THNSL2 were causally associated with an elevated risk of OPA. Furthermore, we identified 386 genes potentially associated with OPA. Hormone secretion and immune-related pathways were found to play significant roles in OPA pathogenesis. Mediation analysis indicated that Upper zone of growth plate and cartilage matrix associated (UCMA) potentially mediates the effect of SEC61A2 in increasing OPA risk.

conclusionSEC61A2 and THNSL2 may serve as early diagnostic biomarkers for OPA. Additionally, SEC61A2 likely increases OPA risk through UCMA.

Indexed as

biomarkersgenome-wide association studiesMendelian randomizationoptic atrophy

Identifiers

PMID42523773
PMCPMC13407595

What Socratic holds

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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 Socratic graph.