ArticleHuman molecular genetics2019
Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 8 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 8 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort.Alzheimer's research & therapy · 2024Pooled it
- Retina as a potential biomarker in schizophrenia spectrum disorders: a systematic review and meta-analysis of optical coherence tomography and electroretinography.Molecular psychiatry · 2024Pooled it
- Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders.Human genetics · 2023Pooled it
- Retinal layers and associated clinical factors in schizophrenia spectrum disorders: a systematic review and meta-analysis.Molecular psychiatry · 2022Pooled it
- New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.Frontiers in genetics · 2022Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled 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
- The eye as a canary in the coal mine: oculomics for psychiatry.Molecular psychiatry · 2026Article
- Apolipoprotein E2/2 (APOE2/2) Genotype Is Associated With Reduced Choroidal Thickness.Investigative ophthalmology & visual science · 2026Article
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development.medRxiv : the preprint server for health sciences · 2026Article
- Brain-heart-eye axis revealed by multi-organ imaging genetics and proteomics.Nature biomedical engineering · 2026Article
- Disease-associated microRNA, miR-9-2, regulates timing of retinal progenitor cell competence and maintenance of Müller glial identity.bioRxiv : the preprint server for biology · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Retina in Clinical High-Risk and First-Episode Psychosis.Schizophrenia bulletin · 2026Article
- Association between ABO and Rh blood groups and subtypes of age-related macular degeneration: A cross-sectional study.PloS one · 2026Article
- Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
- Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.Investigative ophthalmology & visual science · 2025Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The macula, located near the center of the retina in the human eye, is responsible for providing critical functions, such as central, sharp vision. Structural changes in the macula are associated with many ocular diseases, including age-related macular degeneration (AMD) and glaucoma. Although macular thickness is a highly heritable trait, there are no prior reported genome-wide association studies (GWASs) of it. Here we describe the first GWAS of macular thickness, which was measured by spectral-domain optical coherence tomography using 68 423 participants from the UK Biobank cohort. We identified 139 genetic loci associated with macular thickness at genome-wide significance (P < 5 × 10-8). The most significant loci were LINC00461 (P = 5.1 × 10-120), TSPAN10 (P = 1.2 × 10-118), RDH5 (P = 9.2 × 10-105) and SLC6A20 (P = 1.4 × 10-71). Results from gene expression demonstrated that these genes are highly expressed in the retina. Other hits included many previously reported AMD genes, such as NPLOC4 (P = 1.7 × 10-103), RAD51B (P = 9.1 × 10-14) and SLC16A8 (P = 1.7 × 10-8), further providing functional significance of the identified loci. Through cross-phenotype analysis, these genetic loci also exhibited pleiotropic effects with myopia, neurodegenerative diseases (e.g. Parkinson's disease, schizophrenia and Alzheimer's disease), cancer (e.g. breast, ovarian and lung cancers) and metabolic traits (e.g. body mass index, waist circumference and type 2 diabetes). Our findings provide the first insight into the genetic architecture of macular thickness and may further elucidate the pathogenesis of related ocular diseases, such as AMD.
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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.