Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration

Y Pan, Y Fu, PN Baird, RH Guymer, T Das… - Progress in Retinal and …, 2023 - Elsevier
Age-related macular degeneration (AMD) is the leading cause of severe irreversible central
vision loss in individuals over 65 years old. Genome-wide association studies (GWASs) …

Variability in retinal neuron populations and associated variations in mass transport systems of the retina in health and aging

MA Zouache - Frontiers in aging neuroscience, 2022 - frontiersin.org
Aging is associated with a broad range of visual impairments that can have dramatic
consequences on the quality of life of those impacted. These changes are driven by a …

HBEGF-TNF induce a complex outer retinal pathology with photoreceptor cell extrusion in human organoids

M Völkner, F Wagner, LM Steinheuer, M Carido… - Nature …, 2022 - nature.com
Human organoids could facilitate research of complex and currently incurable
neuropathologies, such as age-related macular degeneration (AMD) which causes …

Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium

BL Williams, NA Seager, JD Gardiner… - Proceedings of the …, 2021 - National Acad Sciences
Genome-wide association studies have identified the chromosome 10q26 (Chr10) locus,
which contains the age-related maculopathy susceptibility 2 (ARMS2) and high temperature …

[HTML][HTML] The phenotypic course of age-related macular degeneration for ARMS2/HTRA1: the EYE-RISK consortium

EF Thee, JM Colijn, A Cougnard-Grégoire… - Ophthalmology, 2022 - Elsevier
Purpose Age-related maculopathy susceptibility 2 (ARMS2) is considered the most
enigmatic of the genes for age-related macular degeneration (AMD). We investigated the …

Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression

MA Zouache, BT Richards, CM Pappas… - Nature …, 2024 - nature.com
Dysregulation of the alternative pathway (AP) of the complement system is a significant
contributor to age-related macular degeneration (AMD), a primary cause of irreversible …

Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci

CM Pappas, MA Zouache, S Matthews, CD Faust… - Human genomics, 2021 - Springer
Background Single-variant associations with age-related macular degeneration (AMD), one
of the most prevalent causes of irreversible vision loss worldwide, have been studied …

Complement factor H-related 3 enhanced inflammation and complement activation in human RPE cells

N Schäfer, A Rasras, DM Ormenisan… - Frontiers in …, 2021 - frontiersin.org
Complement Factor H-Related 3 (FHR-3) is a major regulator of the complement system,
which is associated with different diseases, such as age-related macular degeneration …

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank

N Tzoumas, D Kavanagh, HJ Cordell… - Human Molecular …, 2022 - academic.oup.com
To evaluate potential diagnostic and therapeutic biomarkers for age-related macular
degeneration (AMD), we identified 8433 UK Biobank participants with rare complement …

Progression of age-related macular degeneration among individuals homozygous for risk alleles on chromosome 1 (CFH-CFHR5) or chromosome 10 (ARMS2 …

S Schmitz-Valckenberg, M Fleckenstein… - JAMA …, 2022 - jamanetwork.com
Importance Age-related macular degeneration (AMD) is a common cause of irreversible
vision loss among individuals older than 50 years. Although considerable advances have …