Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

ABSTRACT:

Purpose

To determine the profile of inflammation-related proteins and complement system factors in the plasma of CRB1-associated inherited retinal dystrophies (CRB1-IRDs).

Methods

We used the Olink Explore 384 Inflammation II panel for targeted proteomics in 30 cases and 29 controls (cohort I) to identify immune pathways involved in CRB1-IRDs. Genotyping was performed in cohort I and a second cohort of 123 patients from 14 countries and 1292 controls (cohort II).

Results

A significant shift in complement cascade factors was observed in plasma proteomes of CRB1-IRD patients (enrichment for complement cascade, Padj = 3.03 × 10-15). We detected higher plasma levels of complement factor I and complement factor H [CFH] (q = 0.008 and q = 0.046, respectively, adjusted for a

SUBMITTER: Moekotte L 

PROVIDER: S-EPMC11855139 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature