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Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States
- Source :
- Scopus-Elsevier, University of Michigan Symplectic Elements, Molecular Vision, Pasquale, LR; Loomis, SJ; Weinreb, RN; Kang, JH; Yaspan, BL; Cooke Bailey, J; et al.(2013). Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States. Molecular Vision, 19, 1471-1481. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4tv8d9d0
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Abstract
- Purpose: Circulating estrogen levels are relevant in glaucoma phenotypic traits. We assessed the association between an estrogen metabolism single nucleotide polymorphism (SNP) panel in relation to primary open angle glaucoma (POAG), accounting for gender. Methods: We included 3,108 POAG cases and 3,430 controls of both genders from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium genotyped on the Illumina 660W-Quad platform. We assessed the relation between the SNP panels representative of estrogen metabolism and POAG using pathway-and gene-based approaches with the Pathway Analysis by Randomization Incorporating Structure (PARIS) software. PARIS executes a permutation algorithm to assess statistical significance relative to the pathways and genes of comparable genetic architecture. These analyses were performed using the metaanalyzed results from the GLAUGEN and NEIGHBOR data sets. We evaluated POAG overall as well as two subtypes of POAG defined as intraocular pressure (IOP) ≥22mmHg (high-pressure glaucoma [HPG]) or IOP 0.99). Among women, gene-based analyses revealed that the catechol-O-methyltransferase gene showed strong associations with HTG (permuted gene p≤0.001) and NPG (permuted gene p=0.01). Conclusions: The estrogen SNP pathway was associated with POAG among women. © 2013 Molecular Vision.
- Subjects :
- Male
Aging
genetic structures
Neurodegenerative
Ophthalmology & Optometry
Polymorphism, Single Nucleotide
Opthalmology and Optometry
Genetics
Humans
Genetic Predisposition to Disease
Polymorphism
Eye Disease and Disorders of Vision
Intraocular Pressure
Sex Characteristics
Neurosciences
Glaucoma
Estrogens
Single Nucleotide
Estrogen
eye diseases
United States
Open-Angle
Case-Control Studies
Female
sense organs
Glaucoma, Open-Angle
Metabolic Networks and Pathways
Research Article
Signal Transduction
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier, University of Michigan Symplectic Elements, Molecular Vision, Pasquale, LR; Loomis, SJ; Weinreb, RN; Kang, JH; Yaspan, BL; Cooke Bailey, J; et al.(2013). Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States. Molecular Vision, 19, 1471-1481. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4tv8d9d0
- Accession number :
- edsair.pmid.dedup....fb6490decaa6e3c0d9f205e402f11d53