A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci
| العنوان: | A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci |
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| المؤلفون: | Todd E. Scheetz, James C. Folk, H. Culver Boldt, Edwin M. Stone, Terry A. Braun, Stephen R. Russell, Wallace L.M. Alward, Markus H. Kuehn, John H. Fingert, Val C. Sheffield, Abbot F. Clark, Thomas L. Casavant, Kai Wang, Kevin L. Knudtson |
| المصدر: | PLoS ONE, Vol 8, Iss 3, p e58657 (2013) PLoS ONE |
| بيانات النشر: | Public Library of Science (PLoS), 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Male, Anatomy and Physiology, genetic structures, Glaucoma, lcsh:Medicine, Genome-wide association study, Bioinformatics, Cornea, Macular Degeneration, 0302 clinical medicine, lcsh:Science, 0303 health sciences, Multidisciplinary, Complement component 7, Middle Aged, Complement C7, Medicine, Female, Glaucoma, Open-Angle, Research Article, medicine.medical_specialty, Open angle glaucoma, Genotype, Molecular Sequence Data, Quantitative Trait Loci, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Quantitative Trait, Heritable, Ocular System, Ophthalmology, medicine, Genetics, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Inherited Eye Disorders, Amino Acid Sequence, Allele, Risk factor, Alleles, 030304 developmental biology, Aged, lcsh:R, Human Genetics, Macular degeneration, medicine.disease, eye diseases, Macular Disorders, Genetics of Disease, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Sequence Alignment, Population Genetics, Genome-Wide Association Study |
| الوصف: | Glaucoma and age-related macular degeneration (AMD) are the two leading causes of visual loss in the United States. We utilized a novel study design to perform a genome-wide association for both primary open angle glaucoma (POAG) and AMD. This study design utilized a two-stage process for hypothesis generation and validation, in which each disease cohort was utilized as a control for the other. A total of 400 POAG patients and 400 AMD patients were ascertained and genotyped at 500,000 loci. This study identified a novel association of complement component 7 (C7) to POAG. Additionally, an association of central corneal thickness, a known risk factor for POAG, was found to be associated with ribophorin II (RPN2). Linked monogenic loci for POAG and AMD were also evaluated for evidence of association, none of which were found to be significantly associated. However, several yielded putative associations requiring validation. Our data suggest that POAG is more genetically complex than AMD, with no common risk alleles of large effect. |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19c6e05cb2184d62705a51b3a57cb303Test http://europepmc.org/articles/PMC3594156?pdf=renderTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....19c6e05cb2184d62705a51b3a57cb303 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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