Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.

ABSTRACT: Central serous chorioretinopathy is an eye disease characterized by fluid buildup under the central retina whose etiology is not well understood. Abnormal choroidal veins in central serous chorioretinopathy patients have been shown to have similarities with varicose veins. To identify potential mechanisms, we analyzed genotype data from 1,477 patients and 455,449 controls in FinnGen. We identified an association for a low-frequency (allele frequency = 0.5%) missense variant (rs113791087) in PTPRB, the gene encoding vascular endothelial protein tyrosine phosphatase (odds ratio=2.85, P = 4.5 × 10^-9). This was confirmed in a meta-analysis of 2,452 patients and 865,767 controls from 4 studies (odds ratio=3.06, P = 7.4 × 10^-15). Rs113791087 was associated with a 56% higher

SUBMITTER: Ramo JT 

PROVIDER: S-EPMC12049426 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature