Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

A. Strange; C. Bellenguez; X. Sim; R. Luben; P.G. Hysi; W.D. Ramdas; L.M. van Koolwijk; C. Freeman; M. Pirinen; Z. Su; G. Band; D. Vukcevic; Cordelia Langford; P. Deloukas; S. Hunt; E. Gray; S. Dronov; S.C. Potter; A. Tashakkori-Ghanbaria; S. Edkins; S.J. Bumpstead; J.M. Blackwell; E. Bramon; M. A. Brown; J.P. Casas; A. Corvin; A. Duncanson; J.A. Jankowski; H.S. Markus; C.G. Mathew; C.N. Palmer; R. Plomin; A. Rautanen; S.J. Sawcer; R.C. Trembath; N.W. Wood; I. Barroso; L.P. Leena Peltonen; P. Healey; P. McGuffin; F. Topouzis; C.C. Klaver; C.M. van Duijn; D.A. Mackey; T.L. Young; C. J. Hammond; K.-T. Khaw; N. Wareham; J.J. Wang; T.Y. Wong; P.J. Foster; P. Mitchell; C.C. Spencer; P. Donnelly; A.C. Viswanathan; Robert  Pearson

doi:10.1093/hmg/ddt293

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

A. Strange
, C. Bellenguez
, X. Sim
, R. Luben
, P.G. Hysi
, W.D. Ramdas
, L.M. van Koolwijk
, C. Freeman
, M. Pirinen
, Z. Su
, G. Band
, D. Vukcevic
, Cordelia Langford
, P. Deloukas
, S. Hunt
, E. Gray
, S. Dronov
, S.C. Potter
, A. Tashakkori-Ghanbaria
, S. Edkins

S.J. Bumpstead, J.M. Blackwell, E. Bramon, M. A. Brown, J.P. Casas, A. Corvin, A. Duncanson, J.A. Jankowski, H.S. Markus, C.G. Mathew, C.N. Palmer, R. Plomin, A. Rautanen, S.J. Sawcer, R.C. Trembath, N.W. Wood, I. Barroso, L.P. Leena Peltonen, P. Healey, P. McGuffin, F. Topouzis, C.C. Klaver, C.M. van Duijn, D.A. Mackey, T.L. Young, C. J. Hammond, K.-T. Khaw, N. Wareham, J.J. Wang, T.Y. Wong, P.J. Foster, P. Mitchell, C.C. Spencer, P. Donnelly, A.C. Viswanathan, Robert Pearson

Research output: Contribution to journal › Article › peer-review

31 Citations (Scopus)

Abstract

To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P = 1.10 × 10). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

Original language	English
Pages (from-to)	4653-4660
Number of pages	8
Journal	Human Molecular Genetics
Volume	22
Issue number	22
DOIs	https://doi.org/10.1093/hmg/ddt293
Publication status	Published - 2013

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Strange, A., Bellenguez, C., Sim, X., Luben, R., Hysi, P. G., Ramdas, W. D., van Koolwijk, L. M., Freeman, C., Pirinen, M., Su, Z., Band, G., Vukcevic, D., Langford, C., Deloukas, P., Hunt, S., Gray, E., Dronov, S., Potter, S. C., Tashakkori-Ghanbaria, A., ... Pearson, R. (2013). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Human Molecular Genetics, 22(22), 4653-4660. https://doi.org/10.1093/hmg/ddt293

@article{69f5287268634cde99878d84038a61e9,

title = "Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus",

abstract = "To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P = 1.10 × 10). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95\%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.",

author = "A. Strange and C. Bellenguez and X. Sim and R. Luben and P.G. Hysi and W.D. Ramdas and \{van Koolwijk\}, L.M. and C. Freeman and M. Pirinen and Z. Su and G. Band and D. Vukcevic and Cordelia Langford and P. Deloukas and S. Hunt and E. Gray and S. Dronov and S.C. Potter and A. Tashakkori-Ghanbaria and S. Edkins and S.J. Bumpstead and J.M. Blackwell and E. Bramon and Brown, \{M. A.\} and J.P. Casas and A. Corvin and A. Duncanson and J.A. Jankowski and H.S. Markus and C.G. Mathew and C.N. Palmer and R. Plomin and A. Rautanen and S.J. Sawcer and R.C. Trembath and N.W. Wood and I. Barroso and \{Leena Peltonen\}, L.P. and P. Healey and P. McGuffin and F. Topouzis and C.C. Klaver and \{van Duijn\}, C.M. and D.A. Mackey and T.L. Young and Hammond, \{C. J.\} and K.-T. Khaw and N. Wareham and J.J. Wang and T.Y. Wong and P.J. Foster and P. Mitchell and C.C. Spencer and P. Donnelly and A.C. Viswanathan and Robert Pearson",

year = "2013",

doi = "10.1093/hmg/ddt293",

language = "English",

volume = "22",

pages = "4653--4660",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "22",

}

Strange, A, Bellenguez, C, Sim, X, Luben, R, Hysi, PG, Ramdas, WD, van Koolwijk, LM, Freeman, C, Pirinen, M, Su, Z, Band, G, Vukcevic, D, Langford, C, Deloukas, P, Hunt, S, Gray, E, Dronov, S, Potter, SC, Tashakkori-Ghanbaria, A, Edkins, S, Bumpstead, SJ, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Duncanson, A, Jankowski, JA, Markus, HS, Mathew, CG, Palmer, CN, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Wood, NW, Barroso, I, Leena Peltonen, LP, Healey, P, McGuffin, P, Topouzis, F, Klaver, CC, van Duijn, CM, Mackey, DA, Young, TL, Hammond, CJ, Khaw, K-T, Wareham, N, Wang, JJ, Wong, TY, Foster, PJ, Mitchell, P, Spencer, CC, Donnelly, P, Viswanathan, AC & Pearson, R 2013, 'Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus', Human Molecular Genetics, vol. 22, no. 22, pp. 4653-4660. https://doi.org/10.1093/hmg/ddt293

TY - JOUR

T1 - Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

AU - Strange, A.

AU - Bellenguez, C.

AU - Sim, X.

AU - Luben, R.

AU - Hysi, P.G.

AU - Ramdas, W.D.

AU - van Koolwijk, L.M.

AU - Freeman, C.

AU - Pirinen, M.

AU - Su, Z.

AU - Band, G.

AU - Vukcevic, D.

AU - Langford, Cordelia

AU - Deloukas, P.

AU - Hunt, S.

AU - Gray, E.

AU - Dronov, S.

AU - Potter, S.C.

AU - Tashakkori-Ghanbaria, A.

AU - Edkins, S.

AU - Bumpstead, S.J.

AU - Blackwell, J.M.

AU - Bramon, E.

AU - Brown, M. A.

AU - Casas, J.P.

AU - Corvin, A.

AU - Duncanson, A.

AU - Jankowski, J.A.

AU - Markus, H.S.

AU - Mathew, C.G.

AU - Palmer, C.N.

AU - Plomin, R.

AU - Rautanen, A.

AU - Sawcer, S.J.

AU - Trembath, R.C.

AU - Wood, N.W.

AU - Barroso, I.

AU - Leena Peltonen, L.P.

AU - Healey, P.

AU - McGuffin, P.

AU - Topouzis, F.

AU - Klaver, C.C.

AU - van Duijn, C.M.

AU - Mackey, D.A.

AU - Young, T.L.

AU - Hammond, C. J.

AU - Khaw, K.-T.

AU - Wareham, N.

AU - Wang, J.J.

AU - Wong, T.Y.

AU - Foster, P.J.

AU - Mitchell, P.

AU - Spencer, C.C.

AU - Donnelly, P.

AU - Viswanathan, A.C.

AU - Pearson, Robert

PY - 2013

Y1 - 2013

N2 - To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P = 1.10 × 10). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

AB - To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P = 1.10 × 10). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

U2 - 10.1093/hmg/ddt293

DO - 10.1093/hmg/ddt293

M3 - Article

C2 - 23836780

AN - SCOPUS:84887010281

SN - 0964-6906

VL - 22

SP - 4653

EP - 4660

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 22

ER -

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

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