The genetics of human ageing

D Melzer, LC Pilling, L Ferrucci - Nature Reviews Genetics, 2020 - nature.com
The past two centuries have witnessed an unprecedented rise in human life expectancy.
Sustaining longer lives with reduced periods of disability will require an understanding of the …

Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

[HTML][HTML] The Rotterdam Study: 2016 objectives and design update

A Hofman, GGO Brusselle, SD Murad… - European journal of …, 2015 - Springer
Abstract The Rotterdam Study is a prospective cohort study ongoing since 1990 in the city of
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …

[HTML][HTML] A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

H Choquet, S Paylakhi, SC Kneeland, KK Thai… - Nature …, 2018 - nature.com
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet
much of the genetic risk remains unaccounted for, especially in African-Americans who have …

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

H Springelkamp, AI Iglesias, A Mishra… - Human molecular …, 2017 - academic.oup.com
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable
disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease …

EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma

ERA Collantes, MS Delfin, B Fan… - Human …, 2022 - Wiley Online Library
Juvenile open‐angle glaucoma (JOAG) is a severe type of glaucoma with onset before age
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …

[HTML][HTML] A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

H Choquet, KK Thai, J Yin, TJ Hoffmann… - Nature …, 2017 - nature.com
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of
blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci …

[HTML][HTML] The pathophysiological significance of fibulin-3

I Livingstone, VN Uversky, D Furniss, A Wiberg - Biomolecules, 2020 - mdpi.com
Fibulin-3 (also known as EGF-containing fibulin extracellular matrix protein 1 (EFEMP1)) is a
secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the …

[HTML][HTML] Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

F Grassmann, C Kiel, ME Zimmermann, M Gorski… - Genome medicine, 2017 - Springer
Background Age-related macular degeneration (AMD) is a common condition of vision loss
with disease development strongly influenced by environmental and genetic factors …

[HTML][HTML] Commonalities of optic nerve injury and glaucoma-induced neurodegeneration: Insights from transcriptome-wide studies

J Wang, FL Struebing, EE Geisert - Experimental eye research, 2021 - Elsevier
Glaucoma is a collection of diseases that lead to an irreversible vision loss due to damage of
retinal ganglion cells (RGCs). Although the underlying events leading to RGC death are not …