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June 14, 2026Translational Vision Science & TechnologyOpen Access

Causal Relationship Between Blood Proteome and Retinitis Pigmentosa: A Mendelian Randomization Study

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Authors

CJChunyi JiaTMTianju MaLJLiang Jia

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Overview

Mendelian randomization reveals ACP6, AP1G2, and ANXA2 as therapeutic targets for retinitis pigmentosa, indicating new treatment pathways.

Key Points

  • This study aims to identify potential therapeutic targets for retinitis pigmentosa (RP) using genetic and proteomic data.
  • Utilized pQTL data for 4719 plasma proteins from 35,559 individuals.
  • Employed various Mendelian randomization methods including inverse variance weighted and MR-Egger.
  • Conducted in vitro experiments to validate the functions of core proteins.
  • Identified 10 plasma proteins associated with RP through Mendelian randomization analysis.
  • ACP6 and AP1G2 were linked to reduced severity of RP, while ANXA2 was associated with increased severity.
  • Functional experiments showed that overexpression of ACP6 or AP1G2 inhibited H2O2-induced apoptosis in ARPE-19 cells.

Cite This Study

Jia et al. (2026) studied this question.

synapsesocial.com/papers/6a2e482cb1cc60ccdea8c86ahttps://doi.org/10.1167/tvst.15.6.17
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Inferring genetic associations of programmed cell death genes with retinitis pigmentosa through multimodal Mendelian randomization2026
  2. 2Genome Wide Pleiotropic Analysis Reveals Shared Genetic Architecture and Pathological Basis Between Retinitis Pigmentosa and Relevant Ocular Comorbidities2026
  3. 3Aldehyde reductase as potential measurement for retinitis pigmentosa: A two-sample Mendelian randomization (MR) study2026
  4. 4Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates2015 · 7 citations
  5. 5Integrating plasma proteomics and genome-wide association data to identify therapeutic targets for retinal neurodegenerative diseases in Europeans2025 · 1 citations