ArticleEuropean journal of human genetics : EJHG2011
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.BMC genomics · 2023Pooled it
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- FOXP2-Dependent Vulnerability of RGCs Under Acute Ocular Hypertension.Molecular neurobiology · 2025Article
- Exfoliation syndrome genetics in the era of post-GWAS.Vision research · 2025Review
- Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene.Human molecular genetics · 2024Article
- Is pseudoexfoliation glaucoma a neurodegenerative disorder?Journal of biosciences · 2021Review
- De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation.European journal of human genetics : EJHG · 2019Article
- Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome.International ophthalmology · 2019Article
- Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.Journal of ophthalmology · 2019Article
- Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies.Current neuropharmacology · 2018Review
- Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry.Molecular vision · 2018Article
- Whole-genome resequencing of 100 healthy individuals using DNA pooling.Experimental and therapeutic medicine · 2016Article
- Article
- Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.Clinical ophthalmology (Auckland, N.Z.) · 2016Article
- A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.Nature genetics · 2015Article
- Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.Current eye research · 2015Article
- Genome-wide association studies: applications and insights gained in Ophthalmology.Eye (London, England) · 2014Review
- Disentangling pooled triad genotypes for association studies.Annals of human genetics · 2014Article
- Genetics of exfoliation syndrome and glaucoma.International ophthalmology clinics · 2014Review
- An evaluation of allele frequency estimation accuracy using pooled sequencing data.International journal of computational biology and drug design · 2013Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic and nongenetic factors contribute to development of pseudoexfoliation (PEX) syndrome, a complex, age-related, generalized matrix process frequently associated with glaucoma. To identify specific genetic variants underlying its etiology, we performed a genome-wide association study (GWAS) using a DNA-pooling approach. Therefore, equimolar amounts of DNA samples of 80 subjects with PEX syndrome, 80 with PEX glaucoma (PEXG) and 80 controls were combined into separate pools and hybridized to 500K SNP arrays (Affymetrix). Array probe intensity data were analyzed and visualized with expressly developed software tools GPFrontend and GPGraphics in combination with GenePool software. For replication, independent German cohorts of 610 unrelated patients with PEX/PEXG and 364 controls as well as Italian cohorts of 249 patients and 190 controls were used. Of 19, 17 SNPs showing significant allele frequency difference in DNA pools were confirmed by individual genotyping. Further single genotyping at CNTNAP2 locus revealed association between PEX/PEXG for two SNPs, which was confirmed in an independent German but not the Italian cohort. Both SNPs remained significant in the combined German cohorts even after Bonferroni correction (rs2107856: P(c)=0.0108, rs2141388: P(c)=0.0072). CNTNAP2 was found to be ubiquitously expressed in all human ocular tissues, particularly in retina, and localized to cell membranes of epithelial, endothelial, smooth muscle, glial and neuronal cells. Confirming efficiency of GWAS with DNA-pooling approach by detection of the known LOXL1 locus, our study data show evidence for association of CNTNAP2 with PEX syndrome and PEXG in German patients.
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