ArticleMolecular vision2017
Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Article
- The hypothetical molecular mechanism of the ethnic variations in the manifestation of age-related macular degeneration; focuses on the functions of the most significant susceptibility genes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Review
- Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities.International journal of general medicine · 2024Review
- CRISPR editing demonstrates rs10490924 raised oxidative stress in iPSC-derived retinal cells from patients withProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Myeloid cells in retinal and brain degeneration.The FEBS journal · 2022Review
- Interplay between HTRA1 and classical signalling pathways in organogenesis and diseases.Saudi journal of biological sciences · 2022Review
- Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.Developmental cell · 2022Article
- Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degeneration.Experimental eye research · 2021Review
- Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels ofProceedings of the National Academy of Sciences of the United States of America · 2021Article
- The interplay of oxidative stress and ARMS2-HTRA1 genetic risk in neovascular AMD.Vessel plus · 2021Article
- Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.Investigative ophthalmology & visual science · 2020Article
- Association Between Perifoveal Drusen Burden Determined by OCT and Genetic Risk in Early and Intermediate Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2019Article
- Asian age-related macular degeneration: from basic science research perspective.Eye (London, England) · 2019Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
purposeA region within chromosome 10q26 has a set of single nucleotide polymorphisms (SNPs) that define a haplotype that confers high risk for age-related macular degeneration (AMD). We used a bioinformatics approach to search for genes in this region that may be responsible for risk for AMD by assessing levels of gene expression in individuals carrying different haplotypes and by searching for open chromatin regions in the retinal pigment epithelium (RPE) that might include one or more of the SNPs.
methodsWe surveyed the PubMed and the 1000 Genomes databases to find all common (minor allele frequency > 0.01) SNPs in 10q26 strongly associated with AMD. We used the HaploReg and LDlink databases to find sets of SNPs with alleles in linkage disequilibrium and used the Genotype-Tissue Expression (GTEx) database to search for correlations between genotypes at individual SNPs and the relative level of expression of the genes. We also accessed Encyclopedia of DNA Elements (ENCODE) to find segments of open chromatin in the region with the AMD-associated SNPs. Predicted transcription factor binding motifs were identified using HOMER, PROMO, and RegulomeDB software programs.
resultsThere are 34 polymorphisms within a 30-kb region that are in strong linkage disequilibrium (r
conclusionsSNPs in chromosome 10q26 that influence the expression of only
Indexed as
Identifiers
28659708PMC5479693W2625356388What OpenQuestion holds
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.