Search

Your search keyword '"Simcoe, Mark"' showing total 3 results
Start Over Author "Simcoe, Mark" Publisher nature publishing group uk
3 results on '"Simcoe, Mark"'

1. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Author

Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., and Hysi, Pirro G.

Published
2021
Full Text
View/download PDF

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

Author

Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP, Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng CY, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, and Duijn CMV

Subjects
Case-Control Studies, Computational Biology, Gene Expression Profiling, Genetic Association Studies, Genetic Predisposition to Disease, Glaucoma diagnosis, Glaucoma genetics, Humans, Molecular Sequence Annotation, Optic Nerve Diseases genetics, Optic Nerve Diseases pathology, Polymorphism, Single Nucleotide, Signal Transduction, Genome-Wide Association Study, Optic Disk metabolism, Quantitative Trait Loci, Quantitative Trait, Heritable
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 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., Competing Interests: Competing interestsThe authors declare no competing interests., (© The Author(s) 2019.)

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results