Bonnemaijer, Pieter WM, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Gharahkhani, Puya, Vitart, Veronique, Khawaja, Anthony P, Simcoe, Mark, Hoehn, Rene, Cree, Angela J, Igo, Rob P et al (show 133 more authors)
(2019)
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
COMMUNICATIONS BIOLOGY, 2 (1).
435-.
|
Text
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.pdf - Published version Download (1MB) | Preview |
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 <i>PPP1R36-PLEKHG3</i> and rs1028727 near <i>SERPINE3</i> 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | International Glaucoma Genetics Consortium, NEIGHBORHOOD consortium, UK Biobank Eye and Vision Consortium, Optic Disk, Humans, Optic Nerve Diseases, Glaucoma, Genetic Predisposition to Disease, Case-Control Studies, Gene Expression Profiling, Computational Biology, Signal Transduction, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Genetic Association Studies, Molecular Sequence Annotation |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 14 Sep 2020 08:30 |
| Last Modified: | 18 Jan 2023 23:33 |
| DOI: | 10.1038/s42003-019-0634-9 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3100918 |
Dimensions
Dimensions
