Analysis of hemopexin plasma levels in patients with age-related macular degeneration

PURPOSE: A protein quantitative trait locus (pQTL) analysis recently revealed a strong association between hemopexin (HPX) levels and genetic variants at the complement factor H (CFH) locus. In this study, we aimed to determine HPX plasma levels in patients with age-related macular degeneration (AMD...

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Autores principales: Lauwen, Susette, Bakker, Bjorn, de Jong, Eiko K., Fauser, Sascha, Hoyng, Carel B., Lefeber, Dirk J., den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115365/
https://www.ncbi.nlm.nih.gov/pubmed/37089696
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author Lauwen, Susette
Bakker, Bjorn
de Jong, Eiko K.
Fauser, Sascha
Hoyng, Carel B.
Lefeber, Dirk J.
den Hollander, Anneke I.
author_facet Lauwen, Susette
Bakker, Bjorn
de Jong, Eiko K.
Fauser, Sascha
Hoyng, Carel B.
Lefeber, Dirk J.
den Hollander, Anneke I.
author_sort Lauwen, Susette
collection PubMed
description PURPOSE: A protein quantitative trait locus (pQTL) analysis recently revealed a strong association between hemopexin (HPX) levels and genetic variants at the complement factor H (CFH) locus. In this study, we aimed to determine HPX plasma levels in patients with age-related macular degeneration (AMD) and to compare them with those in controls. We also investigated whether genetic variants at the CFH locus are associated with HPX plasma levels. METHODS: HPX levels were quantified in 200 advanced AMD cases and 200 controls using an enzyme-linked immunosorbent assay and compared between the two groups. Furthermore, HPX levels were analyzed per genotype group of three HPX-associated variants (rs61818956, rs10494745, and rs10801582) and four AMD-associated variants (rs794362 [proxy for rs187328863], rs570618, rs10922109, and rs61818924 [proxy for rs61818925]) at the CFH locus. RESULTS: HPX levels were similar in the control group compared with the AMD group. The three variants at the CFH locus, which were previously associated with the HPX levels, showed no association with the HPX levels in our data set. No significant differences in HPX levels were detected between the different genotype groups of AMD-associated variants at the CFH locus. CONCLUSIONS: In this study, HPX levels were not associated with AMD or AMD-associated variants at the CFH locus. The finding of a previous pQTL study that variants at the CFH locus were associated with HPX levels was also not confirmed in this study.
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spelling pubmed-101153652023-04-20 Analysis of hemopexin plasma levels in patients with age-related macular degeneration Lauwen, Susette Bakker, Bjorn de Jong, Eiko K. Fauser, Sascha Hoyng, Carel B. Lefeber, Dirk J. den Hollander, Anneke I. Mol Vis Research Article PURPOSE: A protein quantitative trait locus (pQTL) analysis recently revealed a strong association between hemopexin (HPX) levels and genetic variants at the complement factor H (CFH) locus. In this study, we aimed to determine HPX plasma levels in patients with age-related macular degeneration (AMD) and to compare them with those in controls. We also investigated whether genetic variants at the CFH locus are associated with HPX plasma levels. METHODS: HPX levels were quantified in 200 advanced AMD cases and 200 controls using an enzyme-linked immunosorbent assay and compared between the two groups. Furthermore, HPX levels were analyzed per genotype group of three HPX-associated variants (rs61818956, rs10494745, and rs10801582) and four AMD-associated variants (rs794362 [proxy for rs187328863], rs570618, rs10922109, and rs61818924 [proxy for rs61818925]) at the CFH locus. RESULTS: HPX levels were similar in the control group compared with the AMD group. The three variants at the CFH locus, which were previously associated with the HPX levels, showed no association with the HPX levels in our data set. No significant differences in HPX levels were detected between the different genotype groups of AMD-associated variants at the CFH locus. CONCLUSIONS: In this study, HPX levels were not associated with AMD or AMD-associated variants at the CFH locus. The finding of a previous pQTL study that variants at the CFH locus were associated with HPX levels was also not confirmed in this study. Molecular Vision 2022-12-31 /pmc/articles/PMC10115365/ /pubmed/37089696 Text en Copyright © 2022 Molecular Vision. https://creativecommons.org/licenses/by-nc-nd/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Lauwen, Susette
Bakker, Bjorn
de Jong, Eiko K.
Fauser, Sascha
Hoyng, Carel B.
Lefeber, Dirk J.
den Hollander, Anneke I.
Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title_full Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title_fullStr Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title_full_unstemmed Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title_short Analysis of hemopexin plasma levels in patients with age-related macular degeneration
title_sort analysis of hemopexin plasma levels in patients with age-related macular degeneration
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115365/
https://www.ncbi.nlm.nih.gov/pubmed/37089696
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