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Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.
(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).
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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 x 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 age and sex), inhibitors of complement component 3 (C3), which correlated significantly (Pearson's coefficient >0.6) with elevated levels of C3 (q = 0.064). The CRB1 missense variants frequently found in patients showed a strong linkage disequilibrium with the common CFH variant rs7535263 (D' = 0.97 for p.(Cys948Tyr); D' = 1.0 for p.(Arg764Cys)), known to be linked with altered plasma CFH-related protein levels. Correction for the CFH genotype revealed significantly elevated plasma levels of CFH-related 2 (CFHR2) in CRB1-IRD patients (q = 0.041). CONCLUSIONS. CRB1-IRDs are characterized by changes in plasma levels of complement factors and proteins of the innate immune system, and linkage between CRB1 and CFH genes implicates functional variants of the CFH-CFHR locus with specific pathogenic variants of CRB1.
Keywords
MACULAR DEGENERATION, RETINITIS-PIGMENTOSA, ASSOCIATION, MUTATIONS, DISTINCT, PATIENT, VARIANTS, COMMON, LOCI, GENE, inherited retinal dystrophy, CRB1, proteomics, complement, CFH, inflammation

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MLA
Moekotte, Lude, et al. “Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 66, no. 2, 2025, doi:10.1167/iovs.66.2.55.
APA
Moekotte, L., Boer, J. H. de, Hiddingh, S., de Ligt, A., Nguyen, X.-T.-A., Hoyng, C. B., … Kuiper, J. J. W. (2025). Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 66(2). https://doi.org/10.1167/iovs.66.2.55
Chicago author-date
Moekotte, Lude, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, et al. 2025. “Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 66 (2). https://doi.org/10.1167/iovs.66.2.55.
Chicago author-date (all authors)
Moekotte, Lude, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Terri L. Mclaren, Alaa Altalbishi, Daan M. Panneman, Erica G. M. Boonen, Sandro Banfi, Beatrice Bocquet, Isabelle Meunier, Elfride De Baere, Robert Koenekoop, Monika Oldak, Carlo Rivolta, Lisa Roberts, Raj Ramesar, Rasa Strupaite-Sileikiene, Susanne Kohl, G. Jane Farrar, Marion van Vugt, Jessica van Setten, Susanne Roosing, L. Ingeborgh van den Born, Camiel J. F. Boon, Maria M. van Genderen, and Jonas J. W. Kuiper. 2025. “Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 66 (2). doi:10.1167/iovs.66.2.55.
Vancouver
1.
Moekotte L, Boer JH de, Hiddingh S, de Ligt A, Nguyen X-T-A, Hoyng CB, et al. Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2025;66(2).
IEEE
[1]
L. Moekotte et al., “Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies,” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 66, no. 2, 2025.
@article{01JRCQ3734NTP05ZTERYM2XNY5,
  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 x 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 age and sex), inhibitors of complement component 3 (C3), which correlated significantly (Pearson's coefficient >0.6) with elevated levels of C3 (q = 0.064). The CRB1 missense variants frequently found in patients showed a strong linkage disequilibrium with the common CFH variant rs7535263 (D' = 0.97 for p.(Cys948Tyr); D' = 1.0 for p.(Arg764Cys)), known to be linked with altered plasma CFH-related protein levels. Correction for the CFH genotype revealed significantly elevated plasma levels of CFH-related 2 (CFHR2) in CRB1-IRD patients (q = 0.041). CONCLUSIONS. CRB1-IRDs are characterized by changes in plasma levels of complement factors and proteins of the innate immune system, and linkage between CRB1 and CFH genes implicates functional variants of the CFH-CFHR locus with specific pathogenic variants of CRB1.}},
  articleno    = {{55}},
  author       = {{Moekotte, Lude and Boer, Joke H. de and Hiddingh, Sanne and de Ligt, Aafke and Nguyen, Xuan-Thanh-An and Hoyng, Carel B. and Inglehearn, Chris F. and Mckibbin, Martin and Lamey, Tina M. and Thompson, Jennifer A. and Chen, Fred K. and Mclaren, Terri L. and Altalbishi, Alaa and Panneman, Daan M. and Boonen, Erica G. M. and Banfi, Sandro and Bocquet, Beatrice and Meunier, Isabelle and De Baere, Elfride and Koenekoop, Robert and Oldak, Monika and Rivolta, Carlo and Roberts, Lisa and Ramesar, Raj and Strupaite-Sileikiene, Rasa and Kohl, Susanne and Farrar, G. Jane and van Vugt, Marion and van Setten, Jessica and Roosing, Susanne and van den Born, L. Ingeborgh and Boon, Camiel J. F. and Genderen, Maria M. van and Kuiper, Jonas J. W.}},
  issn         = {{0146-0404}},
  journal      = {{INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE}},
  keywords     = {{MACULAR DEGENERATION,RETINITIS-PIGMENTOSA,ASSOCIATION,MUTATIONS,DISTINCT,PATIENT,VARIANTS,COMMON,LOCI,GENE,inherited retinal dystrophy,CRB1,proteomics,complement,CFH,inflammation}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{11}},
  title        = {{Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies}},
  url          = {{http://doi.org/10.1167/iovs.66.2.55}},
  volume       = {{66}},
  year         = {{2025}},
}
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