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4 results on '"Vollrath, D."'

1. Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Author

Bailey, JNC, Yaspan, BL, Pasquale, LR, Hauser, MA, Kang, JH, Loomis, SJ, Brilliant, M, Budenz, DL, Christen, WG, Fingert, J, Gaasterland, D, Gaasterland, T, Kraft, P, Lee, RK, Lichter, PR, Liu, Y, McCarty, CA, Moroi, SE, Richards, JE, Realini, T, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Wollstein, G, Zack, DJ, Zhang, K, Pericak-Vance, MA, Allingham, RR, Weinreb, RN, Haines, JL, and Wiggs, JL

Subjects
Genetics & Heredity, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine
Abstract

Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3,108 cases and 3,430 controls, we assessed biologic pathways as annotated in the KEGG database for association with risk of POAG. After correction for genic overlap among pathways, we found 4 pathways, butanoate metabolism (hsa00650), hematopoietic cell lineage (hsa04640), lysine degradation (hsa00310) and basal transcription factors (hsa03022) related to POAG with permuted p

Published
2014

2. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

Author

Kang, JH, Loomis, SJ, Yaspan, BL, Bailey, JC, Weinreb, RN, Lee, RK, Lichter, PR, Budenz, DL, Liu, Y, Realini, T, Gaasterland, D, Gaasterland, 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, Forman, JP, Buys, ES, Kraft, P, Zhang, K, Allingham, RR, Pericak-Vance, MA, Richards, JE, Hauser, MA, Haines, JL, Wiggs, JL, and Pasquale, LR

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Aging, Neurosciences, Genetics, Eye Disease and Disorders of Vision, Neurodegenerative, Clinical Research, Cardiovascular, AMP-Activated Protein Kinases, Aged, Case-Control Studies, Caveolin 1, Dynamin II, Dynamins, Endothelium, Vascular, Female, GTP-Binding Proteins, Genetic Predisposition to Disease, Genotype, Glaucoma, Open-Angle, Humans, Inositol 1, 4, 5-Trisphosphate Receptors, Intraocular Pressure, Male, Middle Aged, Muscle, Smooth, Vascular, Nitric Oxide Synthase Type III, Polymorphism, Single Nucleotide, Receptor, Endothelin B, Receptors, Endothelin, Signal Transduction, Clinical Sciences, Immunology, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

AimsVascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG.MethodsWe used Illumina 660W-Quad array genotype data and pooled P-values from 3108 POAG cases and 3430 controls from the combined National Eye Institute Glaucoma Human Genetics Collaboration consortium and Glaucoma Genes and Environment studies. Using information from previous literature and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, we compiled single-nucleotide polymorphisms (SNPs) in 186 vascular tone-regulating genes. We used the 'Pathway Analysis by Randomization Incorporating Structure' analysis software, which performed 1000 permutations to compare the overall pathway and selected genes with comparable randomly generated pathways and genes in their association with POAG.ResultsThe vascular tone pathway was not associated with POAG overall or POAG subtypes, defined by the type of visual field loss (early paracentral loss (n=224 cases) or only peripheral loss (n=993 cases)) (permuted P≥0.20). In gene-based analyses, eight were associated with POAG overall at permuted P

Published
2014

3. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Author

Kang, JH, Loomis, SJ, Yaspan, BL, Bailey, JC, Weinreb, RN, Lee, RK, Lichter, PR, Budenz, DL, Liu, Y, Realini, T, Gaasterland, D, Gaasterland, 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, Forman, JP, Buys, ES, Kraft, P, Zhang, K, Allingham, RR, Pericak-Vance, MA, Richards, JE, Hauser, MA, Haines, JL, Wiggs, JL, and Pasquale, LR

Subjects
Muscle, Smooth, Vascular, Endothelium, Vascular, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Dynamins, Dynamin II, GTP-Binding Proteins, Receptors, Endothelin, Receptor, Endothelin B, Case-Control Studies, Signal Transduction, Intraocular Pressure, Genotype, Polymorphism, Single Nucleotide, Aged, Middle Aged, Female, Male, Caveolin 1, Nitric Oxide Synthase Type III, Inositol 1, 4, 5-Trisphosphate Receptors, AMP-Activated Protein Kinases, Aging, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Genetics, Neurodegenerative, Cardiovascular, Clinical Sciences, Immunology, Opthalmology and Optometry, Ophthalmology & Optometry
Abstract

AimsVascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG.MethodsWe used Illumina 660W-Quad array genotype data and pooled P-values from 3108 POAG cases and 3430 controls from the combined National Eye Institute Glaucoma Human Genetics Collaboration consortium and Glaucoma Genes and Environment studies. Using information from previous literature and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, we compiled single-nucleotide polymorphisms (SNPs) in 186 vascular tone-regulating genes. We used the 'Pathway Analysis by Randomization Incorporating Structure' analysis software, which performed 1000 permutations to compare the overall pathway and selected genes with comparable randomly generated pathways and genes in their association with POAG.ResultsThe vascular tone pathway was not associated with POAG overall or POAG subtypes, defined by the type of visual field loss (early paracentral loss (n=224 cases) or only peripheral loss (n=993 cases)) (permuted P≥0.20). In gene-based analyses, eight were associated with POAG overall at permuted P

Published
2014

4. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Author

Kang, JH, Loomis, SJ, Yaspan, BL, Bailey, JC, Weinreb, RN, Lee, RK, Lichter, PR, Budenz, DL, Liu, Y, Realini, T, Gaasterland, D, Gaasterland, 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, Forman, JP, Buys, ES, Kraft, P, Zhang, K, Allingham, RR, Pericak-Vance, MA, Richards, JE, Hauser, MA, Haines, JL, Wiggs, JL, and Pasquale, LR

Subjects
Muscle, Smooth, Vascular, Endothelium, Vascular, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Dynamins, GTP-Binding Proteins, Receptors, Endothelin, Receptor, Endothelin B, Case-Control Studies, Signal Transduction, Intraocular Pressure, Genotype, Polymorphism, Single Nucleotide, Aged, Middle Aged, Female, Male, Caveolin 1, Nitric Oxide Synthase Type III, Inositol 1, 4, 5-Trisphosphate Receptors, AMP-Activated Protein Kinases, Muscle, Smooth, Vascular, Endothelium, Glaucoma, Open-Angle, Receptors, Endothelin, Receptor, Endothelin B, Polymorphism, Single Nucleotide, Inositol 1, 4, 5-Trisphosphate Receptors, Ophthalmology & Optometry, Clinical Sciences, Immunology, Opthalmology and Optometry
Abstract

AimsVascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG.MethodsWe used Illumina 660W-Quad array genotype data and pooled P-values from 3108 POAG cases and 3430 controls from the combined National Eye Institute Glaucoma Human Genetics Collaboration consortium and Glaucoma Genes and Environment studies. Using information from previous literature and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, we compiled single-nucleotide polymorphisms (SNPs) in 186 vascular tone-regulating genes. We used the 'Pathway Analysis by Randomization Incorporating Structure' analysis software, which performed 1000 permutations to compare the overall pathway and selected genes with comparable randomly generated pathways and genes in their association with POAG.ResultsThe vascular tone pathway was not associated with POAG overall or POAG subtypes, defined by the type of visual field loss (early paracentral loss (n=224 cases) or only peripheral loss (n=993 cases)) (permuted P≥0.20). In gene-based analyses, eight were associated with POAG overall at permuted P

Published
2014

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