Browsing by Author "Pasquale, Louis"

Now showing items 1-20 of 29

    • 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 ...

    • A common variant near TGFBR3 is associated with primary open angle glaucoma 

      Li, Zheng; Allingham, R. Rand; Nakano, Masakazu; Jia, Liyun; Chen, Yuhong; Ikeda, Yoko; Mani, Baskaran; Chen, Li-Jia; Kee, Changwon; Garway-Heath, David F.; Sripriya, Sarangapani; Fuse, Nobuo; Abu-Amero, Khaled K.; Huang, Chukai; Namburi, Prasanthi; Burdon, Kathryn; Perera, Shamira A.; Gharahkhani, Puya; Lin, Ying; Ueno, Morio; Ozaki, Mineo; Mizoguchi, Takanori; Krishnadas, Subbiah Ramasamy; Osman, Essam A.; Lee, Mei Chin; Chan, Anita S.Y.; Tajudin, Liza-Sharmini A.; Do, Tan; Goncalves, Aurelien; Reynier, Pascal; Zhang, Hong; Bourne, Rupert; Goh, David; Broadway, David; Husain, Rahat; Negi, Anil K.; Su, Daniel H; Ho, Ching-Lin; Blanco, Augusto Azuara; Leung, Christopher K.S.; Wong, Tina T.; Yakub, Azhany; Liu, Yutao; Nongpiur, Monisha E.; Han, Jong Chul; Hon, Do Nhu; Shantha, Balekudaru; Zhao, Bowen; Sang, Jinghong; Zhang, NiHong; Sato, Ryuichi; Yoshii, Kengo; Panda-Jonas, Songhomita; Ashley Koch, Allison E.; Herndon, Leon W.; Moroi, Sayoko E.; Challa, Pratap; Foo, Jia Nee; Bei, Jin-Xin; Zeng, Yi-Xin; Simmons, Cameron P.; Bich Chau, Tran Nguyen; Sharmila, Philomenadin Ferdinamarie; Chew, Merwyn; Lim, Blanche; Tam, Pansy O.S.; Chua, Elaine; Ng, Xiao Yu; Yong, Victor H.K.; Chong, Yaan Fun; Meah, Wee Yang; Vijayan, Saravanan; Seongsoo, Sohn; Xu, Wang; Teo, Yik Ying; Cooke Bailey, Jessica N.; Kang, Jae H.; Haines, Jonathan L.; Cheng, Ching Yu; Saw, Seang-Mei; Tai, E-Shyong; Richards, Julia E.; Ritch, Robert; Gaasterland, Douglas E.; Pasquale, Louis R.; Liu, Jianjun; Jonas, Jost B.; Milea, Dan; George, Ronnie; Al-Obeidan, Saleh A.; Mori, Kazuhiko; Macgregor, Stuart; Hewitt, Alex W.; Girkin, Christopher A.; Zhang, Mingzhi; Sundaresan, Periasamy; Vijaya, Lingam; Mackey, David A.; Wong, Tien Yin; Craig, Jamie E.; Sun, Xinghuai; Kinoshita, Shigeru; Wiggs, Janey L.; Khor, Chiea-Chuen; Yang, Zhenglin; Pang, Chi Pui; Wang, Ningli; Hauser, Michael A.; Tashiro, Kei; Aung, Tin; Vithana, Eranga N. (Oxford University Press, 2015)
      Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with ...

    • 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. ...

    • Comparison of Peristat Online Perimetry with the Humphrey Perimetry in a Clinic-Based Setting 

      Lowry, Eugene A.; Hou, Jing; Hennein, Lauren; Chang, Robert T.; Lin, Shan; Keenan, Jeremy; Wang, Sean K.; Ianchulev, Sean; Pasquale, Louis R.; Han, Ying (The Association for Research in Vision and Ophthalmology, 2016)
      Purpose We determined the receiver operating characteristic (ROC) curves for Peristat online perimetry at detecting varying degrees of glaucoma and the correlation between Peristat online perimetry and Humphrey visual ...

    • A Cross-Sectional Survey of the Association between Bilateral Topical Prostaglandin Analogue Use and Ocular Adnexal Features 

      Shah, Mamta; Lee, Grace; Lefebvre, Daniel Robert; Kronberg, Benjamin; Loomis, Stephanie; Brauner, Stacey; Turalba, Angela Valera; Rhee, Douglas J; Freitag, Suzanne Kay; Pasquale, Louis (Public Library of Science, 2013)
      We studied the relation between prostaglandin analogue use and ocular adnexal features. We used a prospective, cross-sectional study involving 157 current, 15 past, and 171 never users of prostaglandin analogues. Patients ...

    • 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 ...

    • Exploring Genome-Wide – Dietary Heme Iron Intake Interactions and the Risk of Type 2 Diabetes 

      Pasquale, Louis; Loomis, Stephanie J.; Aschard, Hugues; Kang, Jae H.; Cornelis, Marilyn C.; Qi, Lu; Kraft, Phillip L.; Hu, Frank B. (Frontiers Research Foundation, 2013)
      Aims/hypothesis: Genome-wide association studies have identified over 50 new genetic loci for type 2 diabetes (T2D). Several studies conclude that higher dietary heme iron intake increases the risk of T2D. Therefore we ...

    • 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 ...

    • 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 ...

    • Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry 

      Ahmad, Shafqat; Rukh, Gull; Varga, Tibor V.; Ali, Ashfaq; Kurbasic, Azra; Shungin, Dmitry; Ericson, Ulrika; Koivula, Robert W.; Chu, Audrey Y.; Rose, Lynda M.; Ganna, Andrea; Qi, Qibin; Stančáková, Alena; Sandholt, Camilla H.; Elks, Cathy E.; Curhan, Gary; Jensen, Majken K.; Tamimi, Rulla M.; Allin, Kristine H.; Jørgensen, Torben; Brage, Soren; Langenberg, Claudia; Aadahl, Mette; Grarup, Niels; Linneberg, Allan; Paré, Guillaume; Magnusson, Patrik K. E.; Pedersen, Nancy L.; Boehnke, Michael; Hamsten, Anders; Mohlke, Karen L.; Pasquale, Louis T.; Pedersen, Oluf; Scott, Robert A.; Ridker, Paul M.; Ingelsson, Erik; Laakso, Markku; Hansen, Torben; Qi, Lu; Wareham, Nicholas J.; Chasman, Daniel I.; Hallmans, Göran; Hu, Frank B.; Renström, Frida; Orho-Melander, Marju; Franks, Paul W. (Public Library of Science, 2013)
      Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. ...

    • 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 ...

    • Glaucoma Screening in the Haitian Afro-Caribbean Population of South Florida 

      Bokman, Christine L.; Pasquale, Louis R.; Parrish, Richard K.; Lee, Richard K. (Public Library of Science, 2014)
      Objective: To evaluate the presence of clinical signs consistent with suspected glaucoma in Haitian Afro-Caribbean individuals residing in South Florida who do not receive regular eye examinations. Design: Retrospective, ...