Journal article

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Pieter WM Bonnemaijer, Elisabeth M van Leeuwen, Adriana I Iglesias, Puya Gharahkhani, Veronique Vitart, Anthony P Khawaja, Mark Simcoe, Rene Hoehn, Angela J Cree, Rob P Igo, Kathryn P Burdon, Jamie E Craig, Alex W Hewitt, Jost Jonas, Chiea-Cheun Khor, Francesca Pasutto, David A Mackey, Paul Mitchell, Aniket Mishra, Calvin Pang Show all



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 PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genom..

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