Mendelian randomization and bioinformatics analysis identify the association between plasma proteins and cataract

Area of Science:

• Ophthalmology
• Genetics
• Proteomics

Background:

• Observational studies suggest a link between plasma proteome and cataracts.
• Causality between plasma protein changes and cataract development is not well-established.

Purpose of the Study:

• To determine the causal relationship between plasma proteome and cataract development.
• To identify specific plasma proteins that influence cataract risk or offer protection.

Main Methods:

• Utilized a bidirectional two-sample Mendelian randomization strategy.
• Performed rigorous data analysis and validation.
• Conducted comprehensive bioinformatics analysis to explore mechanisms.

Main Results:

• Identified ILF3, FAM171A1, ARHGEF2, LPR1B, CRYGD, GLT8D1, ARHGEF10, and LRRTM1 as potential cataract risk factors.
• Found MXRA7, ZHX3, SPAG11B, ARID1A, DNASE1L2, COX7A1, and EEF2K to have a protective effect against cataracts.
• Bioinformatics analysis revealed functional properties and involvement in signaling pathways.

Conclusions:

• Established causal links between specific plasma proteins and cataract risk.
• Provided novel insights into the pathogenesis of cataract through protein function and pathway analysis.