Now showing items 1-20 of 23

    • Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses 

      Khawaja, Anthony P.; Cooke Bailey, Jessica N.; Kang, Jae Hee; Allingham, R. Rand; Hauser, Michael A.; Brilliant, Murray; Budenz, Donald L.; Christen, William G.; Fingert, John; Gaasterland, Douglas; Gaasterland, Terry; Kraft, Peter; Lee, Richard K.; Lichter, Paul R.; Liu, Yutao; Medeiros, Felipe; Moroi, Syoko E.; Richards, Julia E.; Realini, Tony; Ritch, Robert; Schuman, Joel S.; Scott, William K.; Singh, Kuldev; Sit, Arthur J.; Vollrath, Douglas; Wollstein, Gadi; Zack, Donald J.; Zhang, Kang; Pericak-Vance, Margaret; Weinreb, Robert N.; Haines, Jonathan L.; Pasquale, Louis R.; Wiggs, Janey L. (The Association for Research in Vision and Ophthalmology, 2016)
      Purpose Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in ...
    • Association of Dietary Nitrate Intake With Primary Open-Angle Glaucoma 

      Kang, Jae Hee; Willett, Walter C.; Rosner, Bernard Alfred; Buys, Emmanuel; Wiggs, Janey Lee; Pasquale, Louis (American Medical Association (AMA), 2016)
      IMPORTANCE Nitric oxide signaling alterations in outflow facility and retinal blood flow autoregulation are implicated in primary open-angle glaucoma (POAG). Nitric oxide donation has emerged as a POAG therapeutic target. ...
    • Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure Glaucoma 

      Chen, Xueli; Chen, Yuhong; Wiggs, Janey L.; Pasquale, Louis R.; Sun, Xinghuai; Fan, Bao Jian (Public Library of Science, 2016)
      Shorter axial length observed in patients with primary angle closure glaucoma (PACG) might be due to altered matrix metalloproteinase-9 (MMP9) activity resulting in ECM remodeling during eye growth and development. This ...
    • Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma 

      Yaspan, Brian L.; Hauser, Michael A.; Allingham, R. Rand; Olson, Lana M.; Abdrabou, Wael; Brodeur, Wendy; Budenz, Donald L.; Caprioli, Joseph; Crenshaw, Andrew; Crooks, Kristy; DelBono, Elizabeth; Doheny, Kimberly F.; Gaasterland, Douglas; Gaasterland, Terry; Laurie, Cathy; Lichter, Paul R.; Loomis, Stephanie; Liu, Yutao; Medeiros, Felipe A.; McCarty, Cathy; Mirel, Daniel; Moroi, Sayoko E.; Musch, David C.; Realini, Anthony; Rozsa, Frank W.; Schuman, Joel S.; Scott, Kathleen; Singh, Kuldev; Trager, Edward H.; VanVeldhuisen, Paul; Vollrath, Douglas; Wollstein, Gadi; Yoneyama, Sachiko; Zhang, Kang; Weinreb, Robert N.; Ernst, Jason; Masuda, Tomohiro; Zack, Don; Richards, Julia E.; Pericak-Vance, Margaret; Haines, Jonathan L.; Wiggs, Janey Lee; Kang, Jae Hee Hee; Fan, Baojian; Wang, Danyi; Friedman, David S.; Lee, Richard K.; Stein, Joshua D.; Kellis, Manolis; Pasquale, Louis (Public Library of Science, 2012)
      Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve ...
    • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn P; Fogarty, Rhys; Sharma, Shiwani; Hewitt, Alex W.; Martin, Sarah; Law, Matthew H.; Cremin, Katie; Bailey, Jessica N. Cooke; Loomis, Stephanie J.; Pasquale, Louis R.; Haines, Jonathan L.; Hauser, Michael A.; Viswanathan, Ananth C.; McGuffin, Peter; Topouzis, Fotis; Foster, Paul J.; Graham, Stuart L; Casson, Robert J; Chehade, Mark; White, Andrew J; Zhou, Tiger; Souzeau, Emmanuelle; Landers, John; Fitzgerald, Jude T; Klebe, Sonja; Ruddle, Jonathan B; Goldberg, Ivan; Healey, Paul R; Mills, Richard A.; Wang, Jie Jin; Montgomery, Grant W.; Martin, Nicholas G.; RadfordSmith, Graham; Whiteman, David C.; Brown, Matthew A.; Wiggs, Janey L.; Mackey, David A; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E. (2014)
      Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. ...
    • Detectable Clonal Mosaicism from Birth to Old Age and its Relationship to Cancer 

      Laurie, Cathy C.; Laurie, Cecelia A.; Doheny, Kimberly F.; Zelnick, Leila R.; McHugh, Caitlin P.; Ling, Hua; Hetrick, Kurt N.; Amos, Chris; Wei, Qingyi; Wang, Li-e; Hansel, Nadia N.; Mathias, Rasika; Daley, Denise; Beaty, Terri H.; Scott, Alan F.; Ruczinski, Ingo; Scharpf, Rob B.; Bierut, Laura J.; Hartz, Sarah M.; Landi, Maria Teresa; Freedman, Neal D.; Goldin, Lynn R.; Ginsburg, David; Desch, Karl C.; Strom, Sara S.; Blot, William J.; Ingles, Sue A.; Chanock, Stephen J.; Berndt, Sonja I.; Le Marchand, Loic; Monroe, Kristine R; Heit, John A.; de Andrade, Mariza; Armasu, Sebastian M.; Regnier, Cynthia; Lowe, William L.; Marazita, Mary L.; Feingold, Eleanor; Murray, Jeffrey C.; Melbye, Mads; Feenstra, Bjarke; Jarvik, Gail P.; McDavid, Andrew N.; Seshan, Venkatraman E.; Mirel, Daniel B.; Crenshaw, Andrew; Sharopova, Nataliya; Wise, Anastasia; Shen, Jess; Crosslin, David R.; Zheng, Xiuwen; Udren, Jenna I; Bennett, Siiri; Gogarten, Stephanie M.; Conomos, Matthew P.; Heagerty, Patrick; Manolio, Teri; Haiman, Christopher A.; Caporaso, Neil; Weir, Bruce S.; Rice, Kenneth; Kang, Jae Hee; Pugh, Elizabeth W.; Lee, Jeffrey E.; Barnes, Kathleen C.; Li, Jun; Signorello, Lisa B; Henderson, Brian E.; Hayes, M. Geoffrey; Wiggs, Janey Lee; Levine, David M.; Nelson, Sarah C.; Pasquale, Louis (Nature Publishing Group, 2012)
      Clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) was detected using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection ...
    • Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma 

      Ulmer Carnes, Megan; Liu, Yangfan P.; Allingham, R. Rand; Whigham, Benjamin T.; Havens, Shane; Garrett, Melanie E.; Qiao, Chunyan; Katsanis, Nicholas; Wiggs, Janey L.; Pasquale, Louis R.; Ashley-Koch, Allison; Oh, Edwin C.; Hauser, Michael A. (Public Library of Science, 2014)
      Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified ...
    • Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness 

      Desronvil, T.; Logan-Wyatt, D.; Abdrabou, W.; Triana, M.; Taheri, S.; Del Bono, E.; Olivier, M.; Jones, Richard Norman; Pasquale, Louis; Haines, J. L.; Fan, Baojian; Wiggs, Janey Lee (Molecular Vision, 2010)
      Purpose: One approach to identify genes that contribute to common complex ocular disorders such as primary open angle glaucoma (POAG) is to study the genetic determinates of endophenotypes that are defined by underlying ...
    • DNA Methylation Variants at HIF3A Locus, B-Vitamin Intake, and Long-term Weight Change: Gene-Diet Interactions in Two U.S. Cohorts 

      Huang, Tao; Zheng, Yan; Qi, Qibin; Xu, Min; Ley, Sylvia H.; Li, Yanping; Kang, Jae H.; Wiggs, Janey; Pasquale, Louis R.; Chan, Andrew T.; Rimm, Eric B.; Hunter, David J.; Manson, JoAnn E.; Willett, Walter C.; Hu, Frank B.; Qi, Lu (American Diabetes Association, 2015)
      The first epigenome-wide association study of BMI identified DNA methylation at an HIF3A locus associated with BMI. We tested the hypothesis that DNA methylation variants are associated with BMI according to intake of B ...
    • DNA Sequence Variants in the LOXL1 Gene are Associated with Pseudoexfoliation Glaucoma in a U.S. Clinic-Based Population with Broad Ethnic Diversity 

      del Bono, Elizabeth; Haines, Jonathan L; Fan, Baojian; Pasquale, Louis; Grosskreutz, Cynthia Lee; Rhee, Douglas J.; Chen, Teresa Chia-Ching; DeAngelis, Margaret M.; Kim, Ivana Kyung; Miller, Joan Whitten; Li, Tiansen; Wiggs, Janey Lee (BioMed Central, 2008)
      Background: Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using a U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNPs ...
    • Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium 

      Verma, Shefali Setia; Cooke Bailey, Jessica N.; Lucas, Anastasia; Bradford, Yuki; Linneman, James G.; Hauser, Michael A.; Pasquale, Louis R.; Peissig, Peggy L.; Brilliant, Murray H.; McCarty, Catherine A.; Haines, Jonathan L.; Wiggs, Janey L.; Vrabec, Tamara R.; Tromp, Gerard; Ritchie, Marylyn D. (Public Library of Science, 2016)
      Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with ...
    • 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.; Bailey, Jessica Cooke; 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. (Molecular Vision, 2013)
      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 ...
    • Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples 

      Loomis, Stephanie J.; Olson, Lana M.; Mirel, Daniel; Crenshaw, Andrew; Rahhal, Brandon; Tetreault, Stephanie; Kraft, Peter; Haines, Jonathan L.; Pasquale, Louis; Wiggs, Janey Lee; Parkin, Melissa; Tworoger, Shelley Slate; Kang, Jae Hee Hee (Libertas Academica, 2010)
      It is unclear if buccal cell samples contain sufficient human DNA with adequately sized fragments for high throughput genetic bioassays. Yet buccal cell sample collection is an attractive alternative to gathering blood ...
    • Fine Mapping of the GLC1K Juvenile Primary Open-Angle Glaucoma Locus and Exclusion of Candidate Genes 

      Sud, A.; Del Bono, E. A.; Haines, Jennifer; Wiggs, Janey Lee (Molecular Vision, 2008)
      Purpose: Primary open-angle glaucoma is a leading cause of blindness worldwide. We previously identified a region on chromosome 20p12 associated with juvenile-onset primary open-angle glaucoma (JOAG) that was designated ...
    • Fried food consumption, genetic risk, and body mass index: gene-diet interaction analysis in three US cohort studies 

      Qi, Qibin; Chu, Audrey Y; Kang, Jae H; Huang, Jinyan; Rose, Lynda M; Jensen, Majken K; Liang, Liming; Curhan, Gary C; Pasquale, Louis R; Wiggs, Janey L; De Vivo, Immaculata; Chan, Andrew T; Choi, Hyon K; Tamimi, Rulla M; Ridker, Paul M; Hunter, David J; Willett, Walter C; Rimm, Eric B; Chasman, Daniel I; Hu, Frank B; Qi, Lu (BMJ Publishing Group Ltd., 2014)
      Objective: To examine the interactions between genetic predisposition and consumption of fried food in relation to body mass index (BMI) and obesity. Design: Prospective cohort study. Setting: Health professionals in the ...
    • Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma 

      Cooke Bailey, Jessica N.; Loomis, Stephanie J.; Kang, Jae H.; Allingham, R. Rand; Gharahkhani, Puya; Khor, Chiea Chuen; Burdon, Kathryn P.; Aschard, Hugues; Chasman, Daniel I.; Igo, Robert P.; Hysi, Pirro G.; Glastonbury, Craig A.; Ashley-Koch, Allison; Brilliant, Murray; Brown, Andrew A.; Budenz, Donald L.; Buil, Alfonso; Cheng, Ching-Yu; Choi, Hyon; Christen, William G.; Curhan, Gary; De Vivo, Immaculata; Fingert, John H.; Foster, Paul J.; Fuchs, Charles; Gaasterland, Douglas; Gaasterland, Terry; Hewitt, Alex W.; Hu, Frank; Hunter, David J.; Khawaja, Anthony P.; Lee, Richard K.; Li, Zheng; Lichter, Paul R.; Mackey, David A.; McGuffin, Peter; Mitchell, Paul; Moroi, Sayoko E.; Perera, Shamira A.; Pepper, Keating W.; Qi, Qibin; Realini, Tony; Richards, Julia E.; Ridker, Paul M; Rimm, Eric; Ritch, Robert; Ritchie, Marylyn; Schuman, Joel S.; Scott, William K.; Singh, Kuldev; Sit, Arthur J.; Song, Yeunjoo E.; Tamimi, Rulla M.; Topouzis, Fotis; Viswanathan, Ananth C.; Verma, Shefali Setia; Vollrath, Douglas; Wang, Jie Jin; Weisschuh, Nicole; Wissinger, Bernd; Wollstein, Gadi; Wong, Tien Y.; Yaspan, Brian L.; Zack, Donald J.; Zhang, Kang; Weinreb, Robert N.; Pericak-Vance, Margaret A.; Small, Kerrin; Hammond, Christopher J.; Aung, Tin; Liu, Yutao; Vithana, Eranga N.; MacGregor, Stuart; Craig, Jamie E.; Kraft, Peter; Howell, Gareth; Hauser, Michael A.; Pasquale, Louis R.; Haines, Jonathan L.; Wiggs, Janey L. (2015)
      Primary open angle glaucoma (POAG) is a leading cause of blindness world-wide. To identify new susceptibility loci, we meta-analyzed GWAS results from 8 independent studies from the United States (3,853 cases and 33,480 ...
    • Investigation of Founder Effects for the Thr377Met Myocilin Mutation in Glaucoma Families from Differing Ethnic Backgrounds 

      Hewitt, Alex W.; Samples, John R.; Allingham, R. Rand; Järvelä, Irma; Kitsos, George; Krishnadas, Subbaiah R.; Richards, Julia E.; Lichter, Paul R.; Petersen, Michael B.; Sundaresan, Periasamy; Mackey, David A.; Wirtz, Mary K.; Wiggs, Janey Lee (Molecular Vision, 2007)
      Purpose: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds. Methods: Genomic DNA of 24 ...
    • Lack of Association of Polymorphisms in Homocysteine Metabolism Genes with Pseudoexfoliation Syndrome and Glaucoma 

      Fan, Baojian; Chen, Teresa Chia-Ching; Grosskreutz, Cynthia Lee; Pasquale, Louis; Rhee, Douglas J; DelBono, Elizabeth; Haines, Jonathan L.; Wiggs, Janey Lee (Molecular Vision, 2008)
      Purpose: To evaluate genes involved in homocysteine metabolism as secondary risk factors for pseudoexfoliation syndrome (PXFS) and the associated glaucoma (PXFG). Methods: One hundred eighty-six unrelated patients with ...
    • Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma 

      Liu, Yutao; Challa, Pratap; Herndon, Leon W.; Girkin, Christopher A.; Allingham, R. Rand; Hauser, Michael A.; Liu, Wenjing; Wiggs, Janey Lee (Molecular Vision, 2012)
      Purpose Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American ...
    • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process 

      Springelkamp, Henriët.; Höhn, René; Mishra, Aniket; Hysi, Pirro G.; Khor, Chiea-Chuen; Loomis, Stephanie J.; Bailey, Jessica N. Cooke; Gibson, Jane; Thorleifsson, Gudmar; Janssen, Sarah F.; Luo, Xiaoyan; Ramdas, Wishal D.; Vithana, Eranga; Nongpiur, Monisha E.; Montgomery, Grant W.; Xu, Liang; Mountain, Jenny E.; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Karssen, Lennart C.; Sim, Kar-Seng; van Leeuwen, Elisabeth M.; Iglesias, Adriana I.; Verhoeven, Virginie J. M.; Hauser, Michael A.; Loon, Seng-Chee; Despriet, Dominiek D. G.; Nag, Abhishek; Venturini, Cristina; Sanfilippo, Paul G.; Schillert, Arne; Kang, Jae H.; Landers, John; Jonasson, Fridbert; Cree, Angela J.; van Koolwijk, Leonieke M. E.; Rivadeneira, Fernando; Souzeau, Emmanuelle; Jonsson, Vesteinn; Menon, Geeta; Mitchell, Paul; Wang, Jie Jin; Rochtchina, Elena; Attia, John; Scott, Rodney; Holliday, Elizabeth G.; Wong, Tien-Yin; Baird, Paul N.; Xie, Jing; Inouye, Michael; Viswanathan, Ananth; Sim, Xueling; Weinreb, Robert N.; de Jong, Paulus T. V. M.; Oostra, Ben A.; Uitterlinden, André G.; Hofman, Albert; Ennis, Sarah; Thorsteinsdottir, Unnur; Burdon, Kathryn P.; Allingham, R. Rand; Brilliant, Murray H.; Budenz, Donald L.; Cooke Bailey, Jessica N.; Christen, William G.; Fingert, John; Friedman, David S.; Gaasterland, Douglas; Gaasterland, Terry; Haines, Jonathan L.; Kang, Jae Hee; Kraft, Peter; Lee, Richard K.; Lichter, Paul R.; Liu, Yutao; Moroi, Sayoko E.; Pasquale, Louis R.; Pericak-Vance, Margaret A.; Realini, Anthony; Richards, Julia E.; Schuman, Joel S.; Scott, William K.; Singh, Kuldev; Sit, Arthur J.; Vollrath, Douglas; Wiggs, Janey L.; Wollstein, Gadi; Zack, Donald J.; Zhang, Kang; Donnelly (Chair), Peter; Barroso (Deputy Chair), Ines; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Mathew (Chair), Christopher G.; Spector, Timothy D.; Mirshahi, Alireza; Saw, Seang-Mei; Vingerling, Johannes R.; Teo, Yik-Ying; Wolfs, Roger C. W.; Lemij, Hans G.; Tai, E-Shyong; Jansonius, Nomdo M.; Jonas, Jost B.; Cheng, Ching-Yu; Aung, Tin; Klaver, Caroline C. W.; Craig, Jamie E.; Macgregor, Stuart; Mackey, David A.; Lotery, Andrew J.; Stefansson, Kari; Bergen, Arthur A. B.; Young, Terri L.; Pfeiffer, Norbert; Hewitt, Alex W.; van Duijn, Cornelia M.; Hammond, Christopher J. (Nature Pub. Group, 2014)
      Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of ...