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

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Vision Pub Date : 2022-01-01

Susette Lauwen, Bjorn Bakker, Eiko K de Jong, Sascha Fauser, Carel B Hoyng, Dirk J Lefeber, Anneke I den Hollander

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Abstract

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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老年性黄斑变性患者血凝素水平分析。

目的:一项蛋白质数量性状位点(pQTL)分析最近揭示了补体因子H (CFH)位点的遗传变异与血凝素(HPX)水平之间的密切关联。在本研究中，我们旨在测定年龄相关性黄斑变性(AMD)患者的HPX血浆水平，并与对照组进行比较。我们还研究了CFH位点的遗传变异是否与HPX血浆水平相关。方法:采用酶联免疫吸附法定量测定200例晚期AMD患者和200例对照组患者的HPX水平，并进行比较。此外，我们还分析了CFH位点上3个HPX相关变异(rs61818956、rs10494745和rs10801582)和4个amd相关变异(rs794362 [rs187328863的代用基因]、rss570618、rs10922109和rs61818924 [rs61818925的代用基因])的HPX水平。结果:AMD组与对照组HPX水平相近。CFH位点的三个变异，之前与HPX水平相关，在我们的数据集中没有显示与HPX水平相关。CFH位点amd相关变异的不同基因型组间HPX水平无显著差异。结论:在本研究中，HPX水平与CFH位点的AMD或AMD相关变异无关。先前的一项pQTL研究发现，CFH位点的变异与HPX水平相关，但在本研究中也未得到证实。

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来源期刊

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.