Genetic Epidemiology SIG

SIG Corner Editor: João Barbosa Breda

Chair: Ananth Viswanathan
Co-chair: Fotis Topouzis
NGP Co-chair: Anthony Khawaja
NGP Co-chair: Panayiota Founti

1. Ongoing projects

The SIG and its members continue to engage in research and education in the area of large scale genomic and phenotypic datasets. Particularly as regards the latter, the SIG meeting following the EGS Florence meeting prompted the following ‘forward look’:

Refine the SIG focus to: Big data in glaucoma

Redefine Mission: To promote the knowledge and understanding of the emerging available large amount of digital data, including genomic data and other large-scale resources, to improve care for glaucoma patients.

Redefine action plan:

1) Focusing on

**• Real world data

• Genomic data

• Artificial intelligence

• Precision medicine**
2) Raising awareness around the above in international meetings, including the EGS meetings and the EGS Residents’ course.
3) Collaborating with other SIGs and sharing expertise

2. Provide a relevant breakthrough in the field

We have noted the following papers as being of potential interest to EGS members in our SIG area:

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, Simcoe M, Igo RP Jr, Song YE, Wojciechowski R, Cheng CY, Khaw PT, Pasquale LR, Haines JL, Foster PJ, Wiggs JL, Hammond CJ, Hysi PG16; UK Biobank Eye and Vision Consortium; NEIGHBORHOOD Consortium. Nat Genet. 2018 Jun;50(6):778-782. doi: 10.1038/s41588-018-0126-8. E

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. Choquet H, Paylakhi S, Kneeland SC, Thai KK, Hoffmann TJ, Yin J, Kvale MN, Banda Y, Tolman NG, Williams PA, Schaefer C, Melles RB, Risch N, John SWM, Nair KS, Jorgenson E. Nat Commun. 2018 Jun 11;9(1):2278. doi: 10.1038/s41467-018-04555-4.

MicroRNA-related polymorphisms in pseudoexfoliation syndrome, pseudoexfoliative glaucoma, and primary open-angle glaucoma. Anthoula Chatzikyriakidou, Panayiota Founti, Angeliki Melidou, Fani Minti, Emmanouil Bouras, Eleftherios Anastasopoulos, Theofanis Pappas, Anna-Bettina Haidich, Alexandros Lambropoulos & Fotis Topouzis Ophthalmic Genetics, 2018; 39:5, 603-609, doi: 10.1080/13816810.2018.1509352

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci Aung T, Ozaki M, Lee MC, ... Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29.

The search for EGS goal of “Paving the Way to Better Glaucoma Care” continues together with Outcome and other EGS Committees as well as SIGs, i.e. how to promote the best possible well-being and minimal glaucoma-induced visual disability in individuals with glaucoma within affordable healthcare systems. The views expressed are those of the author(s) and are not necessarily those of the EGS.