Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Henriët Springelkamp; Aniket Mishra; Pirro G Hysi; Puya Gharahkhani; René Höhn; Chiea-Chuen Khor; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn P Burdon; Timothy D Spector; Karl J Lackner; Seang-Mei Saw; Johannes R Vingerling; Nomdo M Jansonius; Caroline C W Klaver; Cornelia M van Duijn; Christopher J Hammond

doi:10.1002/gepi.21886

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Henriët Springelkamp, Aniket Mishra, Pirro G Hysi, Puya Gharahkhani, René Höhn, Chiea-Chuen Khor, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Albert Hofman, Tiger Zhou, Kathryn P Burdon, Timothy D Spector, Karl J Lackner, Seang-Mei Saw, Johannes R Vingerling, Nomdo M Jansonius, Caroline C W Klaver, Cornelia M van Duijn, Christopher J Hammond

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Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

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Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

Originele taal-2	Engels
Pagina's (van-tot)	207-16
Aantal pagina's	10
Tijdschrift	Genetic Epidemiology
Volume	39
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1002/gepi.21886
Status	Gepubliceerd - mrt. 2015

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Springelkamp, H., Mishra, A., Hysi, P. G., Gharahkhani, P., Höhn, R., Khor, C.-C., de Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Hofman, A., Zhou, T., Burdon, K. P., Spector, T. D., Lackner, K. J., Saw, S.-M., Vingerling, J. R., Jansonius, N. M., Klaver, C. C. W., van Duijn, C. M. (2015). Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genetic Epidemiology, 39(3), 207-16. https://doi.org/10.1002/gepi.21886

@article{2eefeb58d407485fb7755955b28f3f69,

title = "Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology",

abstract = "Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.",

keywords = "Asian Continental Ancestry Group, European Continental Ancestry Group, Genome-Wide Association Study, Glaucoma, Humans, Optic Disk, Optic Nerve Diseases, Quantitative Trait Loci",

author = "Henri{\"e}t Springelkamp and Aniket Mishra and Hysi, {Pirro G} and Puya Gharahkhani and Ren{\'e} H{\"o}hn and Chiea-Chuen Khor and {de Jong}, {Paulus T V M} and Oostra, {Ben A} and Uitterlinden, {Andr{\'e} G} and Albert Hofman and Tiger Zhou and Burdon, {Kathryn P} and Spector, {Timothy D} and Lackner, {Karl J} and Seang-Mei Saw and Vingerling, {Johannes R} and Jansonius, {Nomdo M} and Klaver, {Caroline C W} and {van Duijn}, {Cornelia M} and Hammond, {Christopher J}",

note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2015",

month = mar,

doi = "10.1002/gepi.21886",

language = "English",

volume = "39",

pages = "207--16",

journal = "Genetic Epidemiology",

issn = "0741-0395",

publisher = "Wiley-Liss Inc.",

number = "3",

}

Springelkamp, H, Mishra, A, Hysi, PG, Gharahkhani, P, Höhn, R, Khor, C-C, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, A, Zhou, T, Burdon, KP, Spector, TD, Lackner, KJ, Saw, S-M, Vingerling, JR, Jansonius, NM, Klaver, CCW, van Duijn, CM, Hammond, CJ 2015, 'Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology', Genetic Epidemiology, vol. 39, nr. 3, blz. 207-16. https://doi.org/10.1002/gepi.21886

TY - JOUR

T1 - Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

AU - Springelkamp, Henriët

AU - Mishra, Aniket

AU - Hysi, Pirro G

AU - Gharahkhani, Puya

AU - Höhn, René

AU - Khor, Chiea-Chuen

AU - de Jong, Paulus T V M

AU - Oostra, Ben A

AU - Uitterlinden, André G

AU - Hofman, Albert

AU - Zhou, Tiger

AU - Burdon, Kathryn P

AU - Spector, Timothy D

AU - Lackner, Karl J

AU - Saw, Seang-Mei

AU - Vingerling, Johannes R

AU - Jansonius, Nomdo M

AU - Klaver, Caroline C W

AU - van Duijn, Cornelia M

AU - Hammond, Christopher J

PY - 2015/3

Y1 - 2015/3

N2 - Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

AB - Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

KW - Asian Continental Ancestry Group

KW - European Continental Ancestry Group

KW - Genome-Wide Association Study

KW - Glaucoma

KW - Humans

KW - Optic Disk

KW - Optic Nerve Diseases

KW - Quantitative Trait Loci

U2 - 10.1002/gepi.21886

DO - 10.1002/gepi.21886

M3 - Article

C2 - 25631615

SN - 0741-0395

VL - 39

SP - 207

EP - 216

JO - Genetic Epidemiology

JF - Genetic Epidemiology

IS - 3

ER -

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

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