ArticleNeuromolecular medicine2015
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Article in Neuromolecular medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- DAPL1 restrains RPE PANoptosis in experimental AMD by inhibiting GRP75-mediated mitochondria-associated endoplasmic reticulum membranes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- DAPL1 is activated by Np63 and GRα and regulates lipid metabolism.Journal of molecular medicine (Berlin, Germany) · 2026Article
- DAPL1 inhibits epithelial-mesenchymal transition of retinal pigment epithelial cells by regulating the TGF-β/MITF pathway.Experimental eye research · 2025Article
- A Dapl1Science advances · 2025Article
- DAPL1 Identified as a Novel Prognostic Biomarker in Breast Cancer: Insights from Comprehensive in Silico Analysis.Iranian journal of biotechnology · 2025Article
- Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.BMJ open ophthalmology · 2025Article
- Stratification of the Extent of Visual Impairment Identifies Sex-Specific Degenerative Changes in Retinal Structure and Function during Aging.Journal of integrative neuroscience · 2025Article
- Death associated protein like 1 acts as a novel tumor suppressor in melanoma by increasing the stability of P21 protein.Molecular and cellular biochemistry · 2025Article
- Immunogenetic and Environmental Factors in Age-Related Macular Disease.International journal of molecular sciences · 2024Review
- Oxidative Stress and Antioxidants in Age-Related Macular Degeneration.Antioxidants (Basel, Switzerland) · 2023Review
- Tissue-Specific Sex Difference in Mouse Eye and Brain Metabolome Under Fed and Fasted States.Investigative ophthalmology & visual science · 2023Article
- DAPL1 prevents epithelial-mesenchymal transition in the retinal pigment epithelium and experimental proliferative vitreoretinopathy.Cell death & disease · 2023Article
- Bioinformatic analysis identifies potential key genes in the pathogenesis of age-related macular degeneration.Indian journal of ophthalmology · 2022Article
- Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells.Genes · 2022Article
- Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing.Scientific reports · 2021Article
- Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.Human molecular genetics · 2021Article
- [Gender medicine in ophthalmology : The "small difference" between women and men].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2020Article
- The role of sex in the genomics of human complex traits.Nature reviews. Genetics · 2019Review
- Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.Clinical epigenetics · 2019Article
- Y chromosome mosaicism is associated with age-related macular degeneration.European journal of human genetics : EJHG · 2019Article
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 3 countries.
Funding
Abstract
Age-related macular degeneration (AMD) is the leading cause of blindness among white caucasians over the age of 50 years with a prevalence rate expected to increase markedly with an anticipated increase in the life span of the world population. To further expand our knowledge of the genetic architecture of the disease, we pursued a candidate gene approach assessing 25 genes and a total of 109 variants. Of these, synonymous single nucleotide polymorphism (SNP) rs17810398 located in death-associated protein-like 1 (DAPL1) was found to be associated with AMD in a joint analysis of 3,229 cases and 2,835 controls from five studies [combined PADJ = 1.15 × 10(-6), OR 1.332 (1.187-1.496)]. This association was characterized by a highly significant sex difference (Pdiff = 0.0032) in that it was clearly confined to females with genome-wide significance [PADJ = 2.62 × 10(-8), OR 1.541 (1.324-1.796); males: PADJ = 0.382, OR 1.084 (0.905-1.298)]. By targeted resequencing of risk and non-risk associated haplotypes in the DAPL1 locus, we identified additional potentially functional risk variants, namely a common 897-bp deletion and a SNP predicted to affect a putative binding site of an exonic splicing enhancer. We show that the risk haplotype correlates with a reduced retinal transcript level of two, less frequent, non-canonical DAPL1 isoforms. DAPL1 plays a role in epithelial differentiation and may be involved in apoptotic processes thereby suggesting a possible novel pathway in AMD pathogenesis.
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Registered trials
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