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Graefe's Archive for Clinical and Experimental Ophthalmology

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Open Access 01-06-2020 | Retinal Disorders

The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers

Authors: Mingyue Luo, Xinyu Zhao, Jingyuan Yang, Youxin Chen

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 6/2020

Abstract

Purpose

Genetic studies have identified the association of some single-nucleotide polymorphisms (SNPs) with polypoidal choroidal vasculopathy (PCV), but little is known about whether these SNPs are related to PCV clinical features as well. We performed this study to examine the association of 12 SNPs with PCV clinical phenotypes.

Methods

Sixty-nine PCV eyes of 69 patients were included. Genomic DNA was extracted from peripheral blood. Agilent SureSelect Human ALL Exon V6 was used to sequence the 12 SNPs previously reported to associate with PCV. Baseline best-corrected visual acuity (BCVA), sub-foveal choroidal thickness (SFCT), choroid maximum vascular diameter (MVD), choroidal vascular hyperpermeability (CVH), and greatest linear dimension (GLD) of entire lesion were measured and compared between patients of different genotypes. Fisher’s exact test and Mann-Whitney U test were mainly used to compare categorical variables and continuous variables respectively.

Results

HTRA1 rs2293870 was a protective factor of PCV or AMD in the fellow eye (P = 0.040) and was related with greater SFCT in PCV eye after multiple linear regression (P = 0.043). C3 rs17030 was associated with smaller GLD (P = 0.033). CFH rs2274700 was related to lower MVD (P = 0.043) and was a protective factor for CVH (P = 0.034).

Conclusion

Multiple PCV-associated SNPs are associated with PCV clinical phenotypes. The involvement of several synonymous SNPs calls for further research on the role of transcriptional alterations and trans-regulation of distant signaling pathways in PCV pathogenesis.

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Title: The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers
Authors: Mingyue Luo
Xinyu Zhao
Jingyuan Yang
Youxin Chen
Publication date: 01-06-2020
Publisher: Springer Berlin Heidelberg
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 6/2020
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-020-04702-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

The association of polypoidal choroidal vasculopathy clinical phenotypes with previously reported genetic markers

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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