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

Publication ,  Journal Article
Bonnemaijer, PWM; Leeuwen, EMV; Iglesias, AI; Gharahkhani, P; Vitart, V; Khawaja, AP; Simcoe, M; Höhn, R; Cree, AJ; Igo, RP; Gerhold-Ay, A ...
Published in: Commun Biol
2019

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 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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Published In

Commun Biol

DOI

EISSN

2399-3642

Publication Date

2019

Volume

2

Start / End Page

435

Location

England

Related Subject Headings

  • Signal Transduction
  • Quantitative Trait, Heritable
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Optic Nerve Diseases
  • Optic Disk
  • Molecular Sequence Annotation
  • Humans
  • Glaucoma
  • Genome-Wide Association Study
 

Citation

APA
Chicago
ICMJE
MLA
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Bonnemaijer, P. W. M., Leeuwen, E. M. V., Iglesias, A. I., Gharahkhani, P., Vitart, V., Khawaja, A. P., … Duijn, C. M. V. (2019). Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol, 2, 435. https://doi.org/10.1038/s42003-019-0634-9
Bonnemaijer, Pieter W. M., Elisabeth M van Leeuwen, Adriana I. Iglesias, Puya Gharahkhani, Veronique Vitart, Anthony P. Khawaja, Mark Simcoe, et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Commun Biol 2 (2019): 435. https://doi.org/10.1038/s42003-019-0634-9.
Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, et al. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019;2:435.
Bonnemaijer, Pieter W. M., et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Commun Biol, vol. 2, 2019, p. 435. Pubmed, doi:10.1038/s42003-019-0634-9.
Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP, International Glaucoma Genetics Consortium, NEIGHBORHOOD consortium, UK Biobank Eye and Vision Consortium, Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng C-Y, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, Duijn CMV. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019;2:435.

Published In

Commun Biol

DOI

EISSN

2399-3642

Publication Date

2019

Volume

2

Start / End Page

435

Location

England

Related Subject Headings

  • Signal Transduction
  • Quantitative Trait, Heritable
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Optic Nerve Diseases
  • Optic Disk
  • Molecular Sequence Annotation
  • Humans
  • Glaucoma
  • Genome-Wide Association Study