AI Article Synopsis
- - The study focuses on using genome-wide association studies to analyze related traits for primary open-angle glaucoma (POAG), particularly looking at optic nerve head (ONH) parameters like cup area and disc area.
- - It identifies new genetic variants linked to ONH traits that have significant implications for POAG, and these variants have been confirmed in independent Asian cohorts.
- - However, the validation of these findings is complicated due to the diversity within POAG groups, suggesting that multi-trait analysis is an effective method for discovering new genetic factors.
Article Abstract
A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in and rs1028727 near at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881308 | PMC |
| http://dx.doi.org/10.1038/s42003-019-0634-9 | DOI Listing |
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