medRxivJClub
Plasma Proteogenomics Identifies RGMB as a Candidate for Primary Open-Angle Glaucoma Detected Only in East Asians
medRxiv · · Preprint · Open access
OKUNO, MIZOUE + 3 more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
RGMB is a suggestive plasma proteogenomic risk factor for primary open-angle glaucoma in East Asians (b_SMR = +0.277; HEIDI P > 0.05; PP4 = 0.684; rs1037599), without Bonferroni-significant support.
- Why it matters: Most East Asian POAG occurs at statistically normal IOP, so proteins linked to POAG via genetic signal not shared with IOP are needed to clarify non-IOP disease biology.
- What they did: The study integrated BioBank Japan POAG GWAS with a Japanese plasma pQTL resource (SomaScan v4) using SMR/HEIDI, colocalization (including a Genomic-SEM non-IOP POAG component), fine-mapping, multi-signal colocalization, and a formal heterogeneity test.
- The result: Four plasma proteins colocalized with POAG in East Asians only (none in both ancestries), RGMB showed no colocalization with European IOP or European POAG, and RGMB-neogenin-BMP axis components were expressed in trabecular meshwork cells.
The findingWhy it mattersWhat they didThe result
- Open access