Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States

Louis R. Pasquale, Stephanie J. Loomis, Robert N. Weinreb, Jae H. Kang, Brian L. Yaspan, Jessica Cooke Bailey, Douglas Gaasterland, Terry Gaasterland, Richard K. Lee, William K. Scott, Paul R. Lichter, Donald L. Budenz, Yutao Liu, Tony Realini, David S. Friedman, Catherine A. McCarty, Sayoko E. Moroi, Lana Olson, Joel S. Schuman, Kuldev SinghDouglas Vollrath, Gadi Wollstein, Donald J. Zack, Murray Brilliant, Arthur J. Sit, William G. Christen, John Fingert, Peter Kraft, Kang Zhang, R. Rand Allingham, Margaret A. Pericak-Vance, Julia E. Richards, Michael A. Hauser, Jonathan L. Haines, Janey L. Wiggs

Research output: Contribution to journalArticle

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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 <22mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women. Results: 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). Conclusions: The estrogen SNP pathway was associated with POAG among women.

Original languageEnglish (US)
Pages (from-to)1471-1481
Number of pages11
JournalMolecular Vision
Volume19
StatePublished - Jul 12 2013
Externally publishedYes

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Estrogens
Glaucoma
Genes
National Eye Institute (U.S.)
Single Nucleotide Polymorphism
Medical Genetics
Random Allocation
Intraocular Pressure
Catechol O-Methyltransferase
Primary Open Angle Glaucoma
Software
Pressure

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Pasquale, L. R., Loomis, S. J., Weinreb, R. N., Kang, J. H., Yaspan, B. L., Cooke Bailey, J., ... Wiggs, J. L. (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.

Estrogen pathway polymorphisms in relation to primary open angle glaucoma : An analysis accounting for gender from the United States. / Pasquale, Louis R.; Loomis, Stephanie J.; Weinreb, Robert N.; Kang, Jae H.; Yaspan, Brian L.; Cooke Bailey, Jessica; Gaasterland, Douglas; Gaasterland, Terry; Lee, Richard K.; Scott, William K.; Lichter, Paul R.; Budenz, Donald L.; Liu, Yutao; Realini, Tony; Friedman, David S.; McCarty, Catherine A.; Moroi, Sayoko E.; Olson, Lana; Schuman, Joel S.; Singh, Kuldev; Vollrath, Douglas; Wollstein, Gadi; Zack, Donald J.; Brilliant, Murray; Sit, Arthur J.; Christen, William G.; Fingert, John; Kraft, Peter; Zhang, Kang; Allingham, R. Rand; Pericak-Vance, Margaret A.; Richards, Julia E.; Hauser, Michael A.; Haines, Jonathan L.; Wiggs, Janey L.

In: Molecular Vision, Vol. 19, 12.07.2013, p. 1471-1481.

Research output: Contribution to journalArticle

Pasquale, LR, Loomis, SJ, Weinreb, RN, Kang, JH, Yaspan, BL, Cooke Bailey, J, Gaasterland, D, Gaasterland, T, Lee, RK, Scott, WK, Lichter, PR, Budenz, DL, Liu, Y, Realini, T, Friedman, DS, McCarty, CA, Moroi, SE, Olson, L, Schuman, JS, Singh, K, Vollrath, D, Wollstein, G, Zack, DJ, Brilliant, M, Sit, AJ, Christen, WG, Fingert, J, Kraft, P, Zhang, K, Allingham, RR, Pericak-Vance, MA, Richards, JE, Hauser, MA, Haines, JL & Wiggs, JL 2013, '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.
Pasquale LR, Loomis SJ, Weinreb RN, Kang JH, Yaspan BL, Cooke Bailey J et al. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States. Molecular Vision. 2013 Jul 12;19:1471-1481.
Pasquale, Louis R. ; Loomis, Stephanie J. ; Weinreb, Robert N. ; Kang, Jae H. ; Yaspan, Brian L. ; Cooke Bailey, Jessica ; Gaasterland, Douglas ; Gaasterland, Terry ; Lee, Richard K. ; Scott, William K. ; Lichter, Paul R. ; Budenz, Donald L. ; Liu, Yutao ; Realini, Tony ; Friedman, David S. ; McCarty, Catherine A. ; Moroi, Sayoko E. ; Olson, Lana ; Schuman, Joel S. ; Singh, Kuldev ; Vollrath, Douglas ; Wollstein, Gadi ; Zack, Donald J. ; Brilliant, Murray ; Sit, Arthur J. ; Christen, William G. ; Fingert, John ; Kraft, Peter ; Zhang, Kang ; Allingham, R. Rand ; Pericak-Vance, Margaret A. ; Richards, Julia E. ; Hauser, Michael A. ; Haines, Jonathan L. ; Wiggs, Janey L. / Estrogen pathway polymorphisms in relation to primary open angle glaucoma : An analysis accounting for gender from the United States. In: Molecular Vision. 2013 ; Vol. 19. pp. 1471-1481.
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title = "Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States",
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 <22mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women. Results: 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). Conclusions: The estrogen SNP pathway was associated with POAG among women.",
author = "Pasquale, {Louis R.} and Loomis, {Stephanie J.} and Weinreb, {Robert N.} and Kang, {Jae H.} and Yaspan, {Brian L.} and {Cooke Bailey}, Jessica and Douglas Gaasterland and Terry Gaasterland and Lee, {Richard K.} and Scott, {William K.} and Lichter, {Paul R.} and Budenz, {Donald L.} and Yutao Liu and Tony Realini and Friedman, {David S.} and McCarty, {Catherine A.} and Moroi, {Sayoko E.} and Lana Olson and Schuman, {Joel S.} and Kuldev Singh and Douglas Vollrath and Gadi Wollstein and Zack, {Donald J.} and Murray Brilliant and Sit, {Arthur J.} and Christen, {William G.} and John Fingert and Peter Kraft and Kang Zhang and Allingham, {R. Rand} and Pericak-Vance, {Margaret A.} and Richards, {Julia E.} and Hauser, {Michael A.} and Haines, {Jonathan L.} and Wiggs, {Janey L.}",
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T1 - Estrogen pathway polymorphisms in relation to primary open angle glaucoma

T2 - An analysis accounting for gender from the United States

AU - Pasquale, Louis R.

AU - Loomis, Stephanie J.

AU - Weinreb, Robert N.

AU - Kang, Jae H.

AU - Yaspan, Brian L.

AU - Cooke Bailey, Jessica

AU - Gaasterland, Douglas

AU - Gaasterland, Terry

AU - Lee, Richard K.

AU - Scott, William K.

AU - Lichter, Paul R.

AU - Budenz, Donald L.

AU - Liu, Yutao

AU - Realini, Tony

AU - Friedman, David S.

AU - McCarty, Catherine A.

AU - Moroi, Sayoko E.

AU - Olson, Lana

AU - Schuman, Joel S.

AU - Singh, Kuldev

AU - Vollrath, Douglas

AU - Wollstein, Gadi

AU - Zack, Donald J.

AU - Brilliant, Murray

AU - Sit, Arthur J.

AU - Christen, William G.

AU - Fingert, John

AU - Kraft, Peter

AU - Zhang, Kang

AU - Allingham, R. Rand

AU - Pericak-Vance, Margaret A.

AU - Richards, Julia E.

AU - Hauser, Michael A.

AU - Haines, Jonathan L.

AU - Wiggs, Janey L.

PY - 2013/7/12

Y1 - 2013/7/12

N2 - 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 <22mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women. Results: 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). Conclusions: The estrogen SNP pathway was associated with POAG among women.

AB - 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 <22mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women. Results: 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). Conclusions: The estrogen SNP pathway was associated with POAG among women.

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