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Special Issue April 2021

IMI 2021 Yearly Digest

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Monica Jong; Jost B. Jonas; James S. Wolffsohn; David A. Berntsen; Pauline Cho; Danielle Clarkson-Townsend; Daniel I. Flitcroft; Kate L. Gifford; Annechien E. G. Haarman; Machelle T. Pardue; Kathryn Richdale; Padmaja Sankaridurg; Milly S. Tedja; Christine F. Wildsoet; Joan E. Bailey-Wilson; Jeremy A. Guggenheim; Christopher J. Hammond; Jaakko Kaprio; Stuart MacGregor; David A. Mackey; Anthony M. Musolf; Caroline C. W. Klaver; Virginie J. M. Verhoeven; Veronique Vitart; Earl L. Smith, III
TAGS: myopia
Invest. Ophthalmol. Vis. Sci.. 2021; 62(5):7. doi: https://doi.org/10.1167/iovs.62.5.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

Janey Wiggs; Puya Gharahkhani; Eric Jorgenson; Pirro G Hysi; Anthony Khawaja; Sarah Pendergrass; Xikun Han; David Mackey; Christopher Hammond; Michael A Hauser; Louis R Pasquale; Caroline Klaver; Michiaki Kubo; Tin Aung; Jamie E Craig; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1890. doi:

ARVO Annual Meeting Abstract June 2020

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

Ayub Qassim; Mona S Awadalla; Sean Mullany; Mark Hassall; owen siggs; Emmanuelle Souzeau; Thi Nguyen; Henry Marshall; Xikun Han; Angela Schulz; Anna Galanopoulos; Stuart L Graham; Alex W Hewitt; Stuart MacGregor; John Landers; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3491. doi:

ARVO Annual Meeting Abstract July 2019

Genetic risk scores of the largest multi-trait GWAS meta-analysis on refractive errors

Caroline C W Klaver; Milly S. Tedja; Xikun Han; Virginie JM Verhoeven; Nick Ericksson; Nick Furlotte; Najaf Amin; Cornelia van Duijn; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3143. doi:

ARVO Annual Meeting Abstract July 2019

The correlation between Glaucoma polygenic risk score and IOP measured by Icare® HOME tonometry within and outside of office hours.

Mona S Awadalla; Mark Hassall; Ayub Qassim; thi thi nguyen; Xikun Han; Stuart MacGregor; John Landers; Jamie E Craig; David A Mackey; Alex W Hewitt

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2408. doi:

ARVO Annual Meeting Abstract July 2019

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

Jamie E Craig; Ayub Qassim; Xikun Han; Mark Hassall; Robert James Casson; Stuart L Graham; David A Mackey; Colin Willoughby; Kathryn P Burdon; John Landers; Emmanuelle Souzeau; Janey L Wiggs; Alex W Hewitt; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1619. doi:

ARVO Annual Meeting Abstract July 2019

Glaucoma polygenic risk score predicts treatment intensity and RNFL loss in glaucoma suspects

Ayub Qassim; Mark Hassall; Xikun Han; Henry Nicholas Marshall; Mona S Awadalla; Stuart L Graham; Paul R Healey; Ashish Agar; John Landers; Anna Galanopoulos; Robert James Casson; Alex W Hewitt; Stuart MacGregor; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2832. doi:

Genetics July 2019

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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Adriana I. Iglesias; Jue Sheng Ong; Anthony P. Khawaja; Puya Gharahkhani; Milly S. Tedja; Virginie J. M. Verhoeven; Pieter W. M. Bonnemaijer; Roger C. W. Wolfs; Terri L. Young; Nomdo M. Jansonius; Jamie E. Craig; Dwight Stambolian; Cornelia M. van Duijn; Stuart MacGregor; Caroline C. W. Klaver; for the International Glaucoma Genetics Consortium (IGGC) and Consortium for Refractive Error and Myopia (CREAM)
TAGS: myopia, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3142-3149. doi: https://doi.org/10.1167/iovs.18-26231

Includes: Supplemental Content

Genetics August 2018

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

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Sherin Shaaban; Sarah MacKinnon; Caroline Andrews; Sandra E. Staffieri; Gail D. E. Maconachie; Wai-Man Chan; Mary C. Whitman; Sarah U. Morton; Seyhan Yazar; Stuart MacGregor; James E. Elder; Elias I. Traboulsi; Irene Gottlob; Alex W. Hewitt; Strabismus Genetics Research Consortium; David G. Hunter; David A. Mackey; Elizabeth C. Engle
TAGS: cohort studies, disease susceptibility, esotropia, genetics, genome-wide association study, parent, single nucleotide polymorphism, meta-analysis, strabismus, genome
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4054-4064. doi: https://doi.org/10.1167/iovs.18-24082

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Adriana I Iglesias; Jue Sheng Ong; Puya Gharahkhani; Dwight Stambolian; Caroline C W Klaver; Stuart MacGregor; Cornelia van Duijn

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1827. doi:

ARVO Annual Meeting Abstract July 2018

A genome-wide association study for keratoconus identifies novel risk loci

Kathryn P Burdon; Bennet McComish; Paul N. Baird; Yelena Bykhovskaya; Andrea Richardson-Wynd; Colin E Willoughby; Xiaohui Li; Srujana Sahebjada; Stuart MacGregor; Sionne Lucas; Jerome I Rotter; Richard A Mills; Alex W. Hewitt; Yaron Rabinowitz; Jamie E. Craig

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4470. doi:

ARVO Annual Meeting Abstract July 2018

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Jamie E. Craig; Alex W. Hewitt; David Mackey; Stuart L Graham; Paul R Healey; Andrew JR White; John Landers; Robert Casson; Emmanuelle Souzeau; Kathryn P Burdon; Puya Gharahkhani; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1177. doi:

Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, cornea, family, genetic pedigree, genome-wide association study, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: https://doi.org/10.1167/iovs.17-23536

Includes: Supplemental Content

Glaucoma February 2018

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

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Jessica N. Cooke Bailey; Puya Gharahkhani; Jae H. Kang; Mariusz Butkiewicz; David A. Sullivan; Robert N. Weinreb; Hugues Aschard; R. Rand Allingham; Allison Ashley-Koch; Richard K. Lee; Sayoko E. Moroi; Murray H. Brilliant; Gadi Wollstein; Joel S. Schuman; John H. Fingert; Donald L. Budenz; Tony Realini; Terry Gaasterland; William K. Scott; Kuldev Singh; Arthur J. Sit; Robert P. Igo, Jr; Yeunjoo E. Song; Lisa Hark; Robert Ritch; Douglas J. Rhee; Douglas Vollrath; Donald J. Zack; Felipe Medeiros; Thasarat S. Vajaranant; Daniel I. Chasman; William G. Christen; Margaret A. Pericak-Vance; Yutao Liu; Peter Kraft; Julia E. Richards; Bernard A. Rosner; Michael A. Hauser; Jamie E. Craig; Kathryn P. Burdon; Alex W. Hewitt; David A. Mackey; Jonathan L. Haines; Stuart MacGregor; Janey L. Wiggs; Louis R. Pasquale; for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
TAGS: genes, glaucoma, metabolism, open-angle glaucoma, testosterone, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: https://doi.org/10.1167/iovs.17-22708

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

Stuart MacGregor; Milly S. Tedja; Robert Wojciechowski; Pirro G Hysi; Virginie JM Verhoeven; Christopher J Hammond; Adriana I Iglesias; David A Mackey; Cornelia van Duijn; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1226. doi:

ARVO Annual Meeting Abstract June 2017

Meta-analyses of two large GWAS show a high genetic correlation between myopia age-at-onset and refractive error during adulthood and older age.

Robert Wojciechowski; Pirro G Hysi; Milly S. Tedja; Virginie JM Verhoeven; Jeremy A Guggenheim; Stuart MacGregor; Christopher J Hammond; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1227. doi:

ARVO Annual Meeting Abstract June 2017

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Jamie E Craig; Puya Gharahkhani; Alex W Hewitt; Kathryn P Burdon; David A Mackey; Stuart L Graham; Paul R Healey; Tiger Zhou; Owen Siggs; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2135. doi:

ARVO Annual Meeting Abstract June 2017

Association of ANGPT1 with Primary Open Angle Glaucoma

Jessica Cooke Bailey; Puya Gharahkhani; Stuart W Tompson; Tomokazu Souma; Owen Siggs; Terri L Young; Angelo P Tanna; Louis R Pasquale; Susan E Quaggin; Stuart MacGregor; Jamie E Craig; Jonathan L Haines; Janey L. Wiggs

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3822. doi:

Genetics March 2017

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

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Tiger Zhou; Emmanuelle Souzeau; Owen M. Siggs; John Landers; Richard Mills; Ivan Goldberg; Paul R. Healey; Stuart Graham; Alex W. Hewitt; David A. Mackey; Anna Galanopoulos; Robert J. Casson; Jonathan B. Ruddle; Jonathan Ellis; Paul Leo; Matthew A. Brown; Stuart MacGregor; Shiwani Sharma; Kathryn P. Burdon; Jamie E. Craig
TAGS: genes, glaucoma, open-angle glaucoma, mutation, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1537-1544. doi: https://doi.org/10.1167/iovs.16-21049

Includes: Supplemental Content

Letters to the Editor November 2016

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population

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Kathryn P. Burdon; Soo K. Ng; Stuart MacGregor; Jamie E. Craig
TAGS: cdkn2b gene, japanese, low tension glaucoma
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6418. doi: https://doi.org/10.1167/iovs.16-20917

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IMI 2021 Yearly Digest

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

Genetic risk scores of the largest multi-trait GWAS meta-analysis on refractive errors

The correlation between Glaucoma polygenic risk score and IOP measured by Icare® HOME tonometry within and outside of office hours.

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

Glaucoma polygenic risk score predicts treatment intensity and RNFL loss in glaucoma suspects

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Assessing the genetic overlap between myopia and primary open-angle glaucoma

A genome-wide association study for keratoconus identifies novel risk loci

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

Meta-analyses of two large GWAS show a high genetic correlation between myopia age-at-onset and refractive error during adulthood and older age.

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Association of ANGPT1 with Primary Open Angle Glaucoma

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population

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