Journal article
Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States
Molecular vision, Vol.19, pp.1471-1481
2013
PMCID: PMC3712669
PMID: 23869166
Abstract
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. 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 meta-analyzed results from the GLAUGEN and NEIGHBOR data sets. We evaluated POAG overall as well as two subtypes of POAG defined as intraocular pressure (IOP) ≥22 mmHg (high-pressure glaucoma [HPG]) or IOP <22 mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women. Among women, the estrogen SNP pathway was associated with POAG overall (permuted p=0.006) and HPG (permuted p<0.001) but not NPG (permuted p=0.09). Interestingly, there was no relation between the estrogen SNP pathway and POAG when men were considered alone (permuted p>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). The estrogen SNP pathway was associated with POAG among women.
Details
- Title: Subtitle
- Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States
- Creators
- Louis R Pasquale - Department of Ophthalmology, Mass Eye & Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. Louis_Pasquale@meei.harvard.eduStephanie J LoomisRobert N WeinrebJae H KangBrian L YaspanJessica Cooke BaileyDouglas GaasterlandTerry GaasterlandRichard K LeeWilliam K Scott - University of Miami HospitalPaul R LichterDonald L BudenzYutao LiuTony RealiniDavid S FriedmanCatherine A McCartySayoko E MoroiLana OlsonJoel S SchumanKuldev SinghDouglas VollrathGadi WollsteinDonald J ZackMurray BrilliantArthur J SitWilliam G ChristenJohn FingertPeter KraftKang ZhangR Rand AllinghamMargaret A Pericak-VanceJulia E RichardsMichael A HauserJonathan L HainesJaney L Wiggs
- Resource Type
- Journal article
- Publication Details
- Molecular vision, Vol.19, pp.1471-1481
- Publisher
- United States
- PMID
- 23869166
- PMCID
- PMC3712669
- ISSN
- 1090-0535
- eISSN
- 1090-0535
- Grant note
- EY013178 / NEI NIH HHS EY18660 / NEI NIH HHS R56 EY011671 / NEI NIH HHS CA87969 / NCI NIH HHS EY011671 / NEI NIH HHS P30 EY014104 / NEI NIH HHS EY008208 / NEI NIH HHS R01 HL073389 / NHLBI NIH HHS R01 HL035464 / NHLBI NIH HHS HL073389 / NHLBI NIH HHS HHSN268200782096C / NHGRI NIH HHS U01 CA049449 / NCI NIH HHS EY144428 / NEI NIH HHS R01 EY018660 / NEI NIH HHS EY09611 / NEI NIH HHS EY010886 / NEI NIH HHS R01 EY015872 / NEI NIH HHS U10 EY012118 / NEI NIH HHS U01 HG004446 / NHGRI NIH HHS HG005259-01 / NHGRI NIH HHS P01 CA087969 / NCI NIH HHS R01 EY009611 / NEI NIH HHS HG004424 / NHGRI NIH HHS EY009847 / NEI NIH HHS EY144448 / NEI NIH HHS HL35464 / NHLBI NIH HHS R01 EY009847 / NEI NIH HHS EY015473 / NEI NIH HHS U01 HG004424 / NHGRI NIH HHS CA49449 / NCI NIH HHS R01 EY009580 / NEI NIH HHS R01 EY022306 / NEI NIH HHS HG004446 / NHGRI NIH HHS R01 EY013178 / NEI NIH HHS R01 EY019126 / NEI NIH HHS HG004608 / NHGRI NIH HHS EY009149 / NEI NIH HHS R01 EY011671 / NEI NIH HHS R03 EY015682 / NEI NIH HHS R01 EY022305 / NEI NIH HHS R01 EY015473 / NEI NIH HHS R01 EY015543 / NEI NIH HHS R01 EY008208 / NEI NIH HHS HHSN268200782096C / NHLBI NIH HHS EY13315 / NEI NIH HHS EY011008 / NEI NIH HHS EY015872 / NEI NIH HHS EY006827 / NEI NIH HHS UM1 CA167552 / NCI NIH HHS EY015682 / NEI NIH HHS U01 HG004608 / NHGRI NIH HHS EY012118 / NEI NIH HHS U01 HG004728 / NHGRI NIH HHS R01 EY013315 / NEI NIH HHS EY015543 / NEI NIH HHS EY09580 / NEI NIH HHS R01 CA049449 / NCI NIH HHS R01 EY010886 / NEI NIH HHS R01 EY011008 / NEI NIH HHS EY019126 / NEI NIH HHS R01 EY012118 / NEI NIH HHS HG004728 / NHGRI NIH HHS
- Language
- English
- Date published
- 2013
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9983979918302771
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