ArticlePloS one2018
Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Meta-regression of genome-wide association studies to estimate age-varying genetic effects.European journal of epidemiology · 2024Pooled it
- Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.BMC medical genomics · 2020Pooled it
- Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration.Journal of human genetics · 2020Pooled it
- Design and model choices shape inference of age-varying genetic effects on complex traits.Nature aging · 2026Article
- Article
- Markedly Lower Rates of Age-Related Macular Degeneration in Malta Compared to European Countries: Results from The Malta Eye Study, Indicating Possible Divergent Genetic Ancestry?Clinical ophthalmology (Auckland, N.Z.) · 2025Article
- Identifying X-chromosome variants associated with age-related macular degeneration.Human molecular genetics · 2024Article
- Thyroid Function, Diabetes, and Common Age-Related Eye Diseases: A Mendelian Randomization Study.Thyroid : official journal of the American Thyroid Association · 2024Article
- Validity and reliability of food frequency questionnaire used in age-related eye disease studies in Turkish adults.Journal of nutritional science · 2023Article
- Relative Telomere Length Is Associated With Age-Related Macular Degeneration in Women.Investigative ophthalmology & visual science · 2022Article
- Age-related macular degeneration.Nature reviews. Disease primers · 2021Review
- Age-Related Macular Degeneration: Epidemiology and Clinical Aspects.Advances in experimental medicine and biology · 2021Article
- Article
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
- Article
- [Gender medicine in ophthalmology : The "small difference" between women and men].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2020Article
- Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration.BMC medical genomics · 2020Article
- Genetic and environmental risk factors for extramacular drusen.Molecular vision · 2020Article
- The Regulation of NFE2L2 (NRF2) Signalling and Epithelial-to-Mesenchymal Transition in Age-Related Macular Degeneration Pathology.International journal of molecular sciences · 2019Review
- Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.Human genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Late-stage age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly with a complex etiology. The most important non-modifiable risk factors for onset and progression of late AMD are age and genetic risk factors, however, little is known about the interplay between genetics and age or sex. Here, we conducted a large-scale age- and sex-stratified genome-wide association study (GWAS) using 1000 Genomes imputed genome-wide and ExomeChip data (>12 million variants). The data were established by the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) from 16,144 late AMD cases and 17,832 controls. Our systematic search for interaction effects yielded significantly stronger effects among younger individuals at two known AMD loci (near CFH and ARMS2/HTRA1). Accounting for age and gene-age interaction using a joint test identified two additional AMD loci compared to the previous main effect scan. One of these two is a novel AMD GWAS locus, near the retinal clusterin-like protein (CLUL1) gene, and the other, near the retinaldehyde binding protein 1 (RLBP1), was recently identified in a joint analysis of nuclear and mitochondrial variants. Despite considerable power in our data, neither sex-dependent effects nor effects with opposite directions between younger and older individuals were observed. This is the first genome-wide interaction study to incorporate age, sex and their interaction with genetic effects for late AMD. Results diminish the potential for a role of sex in the etiology of late AMD yet highlight the importance and existence of age-dependent genetic effects.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.