Varaico: Literature-Extracted Genetic Variants

Gene:ARMS2
Variant:p.A69S
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ARMS2

NM_001099667.3:p.A69S

Associated Papers

How do genetic polymorphisms influence the efficacy of age-related macular degeneration treatments? A systematic review and meta-analysis.

Chen KY et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2026

Impact of age-related maculopathy susceptibility 2, high-temperature requirement A serine peptidase 1, and complement factor H genetic variants on clinical phenotypes of age-related macular degeneration.

Ranga D et al.

Indian Journal of Ophthalmology, 2026

Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women.

Kim SK et al.

Diagnostics (basel, Switzerland), 2026

International Consensus and Guidelines on Diagnosing and Managing Pachydrusen from APVRS, AEEC, APOIS, AAPPO, and ARI.

Sasaki M et al.

American Journal of Ophthalmology, 2026

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.

Farashi S et al.

Nature Communications, 2025

Defective chaperone-mediated autophagy in the retinal pigment epithelium of age-related macular degeneration patients.

Jiménez-Loygorri JI et al.

Embo Molecular Medicine, 2025

41168502 (PubMed )
Supplement: 44321_2025_329_MOESM2_ESM.xlsx › TableEV2

Identification and functional characterization of an AMD associated c-ABL binding SNP streak within the ARMS2 gene promoter region.

Zhang PW et al.

Biorxiv : the Preprint Server for Biology, 2025

Gender-Specific Associations of CYP4F2 (rs1558139) Gene Polymorphism and Serum Levels in Early and Exudative Age-Related Macular Degeneration.

Vilkeviciute A et al.

Cureus, 2025

Loss of CFHR5 function reduces the risk for age-related macular degeneration.

Reeve MP et al.

Nature Communications, 2025

Genetic Associations of Rod- and Cone-Mediated Vision in Aging and Age-Related Macular Degeneration.

Curcio CA et al.

Investigative Ophthalmology & Visual Science, 2025

Genetic Factors Associated with Intraocular Inflammation After Brolucizumab Administration in Patients with Exudative Age-Related Macular Degeneration.

Yoneyama S et al.

Genes, 2025

HTRA1 and complement activation in neovascular age-related macular degeneration.

Tanaka K et al.

Japanese Journal of Ophthalmology, 2025

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.

Ratnapriya R et al.

Experimental Eye Research, 2025

Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.

Cui J et al.

Bmj Open Ophthalmology, 2025

Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic.

Furundaoturan O et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2025

Ablation of Htra1 leads to sub-RPE deposits and photoreceptor abnormalities.

Biswas P et al.

Jci Insight, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.

Gorman BR et al.

Nature Genetics, 2024

Nutritional Genomics: Implications for Age-Related Macular Degeneration.

Figueiredo I et al.

Nutrients, 2024

Recycling the recyclers: lysophagy emerges as a new pharmacological target for retinal degeneration.

Jiménez-Loygorri JI et al.

Autophagy, 2024

Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature.

Carlà MM et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.

Farashi S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The Impact of ARMS2 (rs10490924), VEGFA (rs3024997), TNFRSF1B (rs1061622), TNFRSF1A (rs4149576), and IL1B1 (rs1143623) Polymorphisms and Serum Levels on Age-Related Macular Degeneration Development and Therapeutic Responses.

Cebatoriene D et al.

International Journal of Molecular Sciences, 2024

Relationship between CCL2 gene 2518A/G (rs1024611) polymorphism and age-related macular degeneration susceptibility: meta-analysis and trial sequential analysis.

Tian H et al.

International Ophthalmology, 2024

Genetic Insights into Age-Related Macular Degeneration.

Bhumika et al.

Biomedicines, 2024

Genetic and Epigenetic Biomarkers Linking Alzheimer's Disease and Age-Related Macular Degeneration.

Kaštelan S et al.

International Journal of Molecular Sciences, 2024

ANO2 Genetic Variants and Anti-VEGF Treatment Response in Neovascular AMD: A Pharmacogenetic Substudy of VIEW 1 and VIEW 2.

Guymer RH et al.

Investigative Ophthalmology & Visual Science, 2024

Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes.

Vilkeviciute A et al.

International Journal of Molecular Sciences, 2024

CFH Haploinsufficiency and Complement Alterations in Early-Onset Macular Degeneration.

Lim RR et al.

Investigative Ophthalmology & Visual Science, 2024

38683564 (PubMed )
Supplement: iovs-65-4-43_s002.pdf

Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians.

Nguyen J et al.

Frontiers in Bioscience (scholar Edition), 2024

C-reactive protein-complement factor H axis as a biomarker of activity in early and intermediate age-related macular degeneration.

Giralt L et al.

Frontiers in Immunology, 2024

Association of the Complement Factor H Y402H Polymorphism and Response to Anti-Vascular Endothelial Growth Factor Treatment in Age-Related Macular Degeneration: An Updated Meta-Analysis.

Roshanshad A et al.

Ophthalmic Research, 2024

Genetic and molecular biomarkers for geographic atrophy.

Riley-Gillis B et al.

Acta Ophthalmologica, 2023

Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.

Giannopoulos K et al.

European Journal of Ophthalmology, 2023

Regulatable Complement Inhibition of the Alternative Pathway Mitigates Wet Age-Related Macular Degeneration Pathology in a Mouse Model.

Parsons NB et al.

Translational Vision Science & Technology, 2023

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Ophthalmology Science, 2023

CRISPR editing demonstrates rs10490924 raised oxidative stress in iPSC-derived retinal cells from patients with ARMS2/HTRA1-related AMD.

Chang YJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Association of HERPUD1 genetic variant rs2217332 with age-related macular degeneration and polypoidal choroidal vasculopathy in an Indian cohort.

Alagappan LP et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023

Influence of Clinical and Genetic Factors on the Progression of Age-Related Macular Degeneration: A 3-Year Follow-Up.

Krytkowska E et al.

Journal of Clinical Medicine, 2023

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.

Shih CH et al.

Frontiers in Genetics, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration.

Gogna N et al.

Advances in Experimental Medicine and Biology, 2023

Geographic atrophy: pathophysiology and current therapeutic strategies.

Rajanala K et al.

Frontiers in Ophthalmology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."