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152. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error

Author

University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., CREAM Consortium, University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and CREAM Consortium

Published
2015

153. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G, primary, Igl, Wilmar, additional, Bailey, Jessica N Cooke, additional, Grassmann, Felix, additional, Sengupta, Sebanti, additional, Bragg-Gresham, Jennifer L, additional, Burdon, Kathryn P, additional, Hebbring, Scott J, additional, Wen, Cindy, additional, Gorski, Mathias, additional, Kim, Ivana K, additional, Cho, David, additional, Zack, Donald, additional, Souied, Eric, additional, Scholl, Hendrik P N, additional, Bala, Elisa, additional, Lee, Kristine E, additional, Hunter, David J, additional, Sardell, Rebecca J, additional, Mitchell, Paul, additional, Merriam, Joanna E, additional, Cipriani, Valentina, additional, Hoffman, Joshua D, additional, Schick, Tina, additional, Lechanteur, Yara T E, additional, Guymer, Robyn H, additional, Johnson, Matthew P, additional, Jiang, Yingda, additional, Stanton, Chloe M, additional, Buitendijk, Gabriëlle H S, additional, Zhan, Xiaowei, additional, Kwong, Alan M, additional, Boleda, Alexis, additional, Brooks, Matthew, additional, Gieser, Linn, additional, Ratnapriya, Rinki, additional, Branham, Kari E, additional, Foerster, Johanna R, additional, Heckenlively, John R, additional, Othman, Mohammad I, additional, Vote, Brendan J, additional, Liang, Helena Hai, additional, Souzeau, Emmanuelle, additional, McAllister, Ian L, additional, Isaacs, Timothy, additional, Hall, Janette, additional, Lake, Stewart, additional, Mackey, David A, additional, Constable, Ian J, additional, Craig, Jamie E, additional, Kitchner, Terrie E, additional, Yang, Zhenglin, additional, Su, Zhiguang, additional, Luo, Hongrong, additional, Chen, Daniel, additional, Ouyang, Hong, additional, Flagg, Ken, additional, Lin, Danni, additional, Mao, Guanping, additional, Ferreyra, Henry, additional, Stark, Klaus, additional, von Strachwitz, Claudia N, additional, Wolf, Armin, additional, Brandl, Caroline, additional, Rudolph, Guenther, additional, Olden, Matthias, additional, Morrison, Margaux A, additional, Morgan, Denise J, additional, Schu, Matthew, additional, Ahn, Jeeyun, additional, Silvestri, Giuliana, additional, Tsironi, Evangelia E, additional, Park, Kyu Hyung, additional, Farrer, Lindsay A, additional, Orlin, Anton, additional, Brucker, Alexander, additional, Li, Mingyao, additional, Curcio, Christine A, additional, Mohand-Saïd, Saddek, additional, Sahel, José-Alain, additional, Audo, Isabelle, additional, Benchaboune, Mustapha, additional, Cree, Angela J, additional, Rennie, Christina A, additional, Goverdhan, Srinivas V, additional, Grunin, Michelle, additional, Hagbi-Levi, Shira, additional, Campochiaro, Peter, additional, Katsanis, Nicholas, additional, Holz, Frank G, additional, Blond, Frédéric, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Igo, Robert P, additional, Truitt, Barbara, additional, Peachey, Neal S, additional, Meuer, Stacy M, additional, Myers, Chelsea E, additional, Moore, Emily L, additional, Klein, Ronald, additional, Hauser, Michael A, additional, Postel, Eric A, additional, Courtenay, Monique D, additional, Schwartz, Stephen G, additional, Kovach, Jaclyn L, additional, Scott, William K, additional, Liew, Gerald, additional, Tan, Ava G, additional, Gopinath, Bamini, additional, Merriam, John C, additional, Smith, R Theodore, additional, Khan, Jane C, additional, Shahid, Humma, additional, Moore, Anthony T, additional, McGrath, J Allie, additional, Laux, Reneé, additional, Brantley, Milam A, additional, Agarwal, Anita, additional, Ersoy, Lebriz, additional, Caramoy, Albert, additional, Langmann, Thomas, additional, Saksens, Nicole T M, additional, de Jong, Eiko K, additional, Hoyng, Carel B, additional, Cain, Melinda S, additional, Richardson, Andrea J, additional, Martin, Tammy M, additional, Blangero, John, additional, Weeks, Daniel E, additional, Dhillon, Bal, additional, van Duijn, Cornelia M, additional, Doheny, Kimberly F, additional, Romm, Jane, additional, Klaver, Caroline C W, additional, Hayward, Caroline, additional, Gorin, Michael B, additional, Klein, Michael L, additional, Baird, Paul N, additional, den Hollander, Anneke I, additional, Fauser, Sascha, additional, Yates, John R W, additional, Allikmets, Rando, additional, Wang, Jie Jin, additional, Schaumberg, Debra A, additional, Klein, Barbara E K, additional, Hagstrom, Stephanie A, additional, Chowers, Itay, additional, Lotery, Andrew J, additional, Léveillard, Thierry, additional, Zhang, Kang, additional, Brilliant, Murray H, additional, Hewitt, Alex W, additional, Swaroop, Anand, additional, Chew, Emily Y, additional, Pericak-Vance, Margaret A, additional, DeAngelis, Margaret, additional, Stambolian, Dwight, additional, Haines, Jonathan L, additional, Iyengar, Sudha K, additional, Weber, Bernhard H F, additional, Abecasis, Gonçalo R, additional, and Heid, Iris M, additional

Published
2015
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156. Age-Related Macular Degeneration in Ethnically Diverse Australia: Melbourne Collaborative Cohort Study

Author

Robman, Liubov D., primary, Islam, Fakir M. A., additional, Chong, Elaine W. T., additional, Adams, Madeleine K. M., additional, Simpson, Julie A., additional, Aung, Khin Zaw, additional, Makeyeva, Galina A., additional, Hopper, John L., additional, English, Dallas R., additional, Giles, Graham G., additional, Baird, Paul N., additional, and Guymer, Robyn H., additional

Published
2015
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159. A decade of age-related macular degeneration risk models: What have we learned from them and where are we going?

Author

Zhang, Michael and Baird, Paul N.

Subjects
*RETINAL degeneration, *INDIVIDUALIZED medicine, *ENVIRONMENTAL risk, *TIME measurements, *LOGISTIC regression analysis, *DIAGNOSIS
Abstract

The genomic revolution has revealed the complexity of multifactorial diseases, making the development of effective diagnostics extremely challenging. In turn, the prospect of precision medicine as applied through targeted therapeutic treatments continues to remain largely elusive. Age-related macular degeneration (AMD) as a complex disease falls under this category, despite it being one of the most well characterized multifactorial diseases. This reflects both the extent of identified genetic components and known environmental risk factors. Additional considerations in dissecting out the roles played by genetic and non-genetic risk factors arise through the rapid increase in prevalence of AMD with age and the varying time periods over which disease progression can occur, complicating efforts to discriminate between “progressors” and non-“progressors.” As a consequence, extensive research into the aetiology of AMD is yet to realize a clinically acceptable predictive test. This review covers the current climate of risk models in late AMD but will focus mainly on genetic risk factors as well as the types of models that have currently been employed in the AMD modelling literature. [ABSTRACT FROM PUBLISHER]

Published
2017
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164. Dietary Patterns and Their Associations with Age-Related Macular Degeneration

Author

Amirul Islam, Fakir M., primary, Chong, Elaine W., additional, Hodge, Allison M., additional, Guymer, Robyn H., additional, Aung, Khin Zaw, additional, Makeyeva, Galina A., additional, Baird, Paul N., additional, Hopper, John L., additional, English, Dallas R., additional, Giles, Graham G., additional, and Robman, Liubov D., additional

Published
2014
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169. Younger siblings, C-Reactive protein, and risk of age-related macular degeneration

Author

Cohn, Amy C, Busija, Lucy, Robman, Liubov D, Dimitrov, Peter N, Varsamidis, Mary, Lim, Lyndell L, Baird, Paul N, Guymer, Robyn H, Cohn, Amy C, Busija, Lucy, Robman, Liubov D, Dimitrov, Peter N, Varsamidis, Mary, Lim, Lyndell L, Baird, Paul N, and Guymer, Robyn H

Abstract

In this study, we examined the relationship between exposure to siblings and 1) the risk of age-related macular degeneration (AMD) and 2) C-reactive protein levels. We retrospectively analyzed pooled cross-sectional data from 2 studies: the Cardiovascular Health and Age-Related Maculopathy Study (2001–2002) and the Age-Related Maculopathy Statin Study (2004–2006). Associations between number of siblings and AMD were assessed by using multinomial logistic regression. Associations between number of siblings and C-reactive protein levels were examined by using a generalized linear model for γ distribution. A higher number of younger siblings was associated with significantly lower odds of early AMD in those with a family history of AMD (odds ratio = 0.2, 95% confidence interval: 0.1, 0.8) (P = 0.022) but was unrelated to AMD for those who had no family history of the disease (odds ratio = 1.0, 95% confidence interval: 0.9, 1.2) (P = 0.874). A higher number of younger siblings correlated with lower C-reactive protein levels (β = −0.19, 95% confidence interval: −0.38, −0.01) (P = 0.036). This supports the theory that immune modulation contributes to AMD pathogenesis and suggests that exposure to younger siblings might be protective when there is a family history of AMD.

Published
2013

170. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author

Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J

Abstract

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.

Published
2013

171. Proof of concept, randomized, placebo-controlled study of the effect of simvastatin on the course of age-related macular degeneration

Author

Guymer, Robyn H, Baird, Paul N, Varsamidis, Mary, Busija, Lucy, Dimitrov, Peter N, Aung, Khin Zaw, Makeyeva, Galina A, Richardson, Andrea J, Lim, Lyndell, Robman, Liubov D, Guymer, Robyn H, Baird, Paul N, Varsamidis, Mary, Busija, Lucy, Dimitrov, Peter N, Aung, Khin Zaw, Makeyeva, Galina A, Richardson, Andrea J, Lim, Lyndell, and Robman, Liubov D

Published
2013

174. Can HMG Co-A reductase inhibitors (“statins”) slow the progression of age-related macular degeneration? The Age-Related Maculopathy Statin Study (ARMSS)

Author

Guymer,Robyn H, Dimitrov,Peter N, Varsamidis,Mary, Lim,Lyndell L, Baird,Paul N, Vingrys,Algis J, Robman,Luba, Guymer,Robyn H, Dimitrov,Peter N, Varsamidis,Mary, Lim,Lyndell L, Baird,Paul N, Vingrys,Algis J, and Robman,Luba

Abstract

Robyn H Guymer1,3, Peter N Dimitrov1, Mary Varsamidis1, Lyndell L Lim1,3, Paul N Baird1, Algis J Vingrys2, Luba Robman1,31Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia; 2Department of Optometry and Visual Sciences, University of Melbourne, Melbourne, Victoria, Australia; 3Royal Victorian Eye and EAR Hospital, Melbourne, AustraliaAbstract: Age-related macular degeneration (AMD) is responsible for the majority of visual impairment in the Western world. The role of cholesterol-lowering medications, HMG Co-A reductase inhibitors or statins, in reducing the risk of AMD or of delaying its progression has not been fully investigated. A 3-year prospective randomized controlled trial of 40 mg simvastatin per day compared to placebo in subjects at high risk of AMD progression is described. This paper outlines the primary aims of the Age-Related Maculopathy Statin Study (ARMSS), and the methodology involved. Standardized clinical grading of macular photographs and comparison of serial macular digital photographs, using the International grading scheme, form the basis for assessment of primary study outcomes. In addition, macular function is assessed at each visit with detailed psychophysical measurements of rod and cone function. Information collected in this study will assist in the assessment of the potential value of HMG Co-A reductase inhibitors (statins) in reducing the risk of AMD progression.Keywords: age-related macular degeneration, progression, randomized controlled trial, HMG Co-A reductase inhibitor, statin, visual function

Published
2008

175. The Q368STOP Myocilin Mutation in a Population-based Cohort: The Blue Mountains Eye Study

Author

Baird, Paul N., Richardson, Andrea J., Craig, Jamie E., Rochtchina, Elena, Mackey, David A., and Mitchell, Paul

Subjects
Ophthalmology -- Analysis, Ophthalmology -- Genetic aspects, Health
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajo.2004.11.061 Byline: Paul N. Baird (a), Andrea J. Richardson (a), Jamie E. Craig (a)(b), Elena Rochtchina (c), David A. Mackey (a)(d), Paul Mitchell (d) Abstract: To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES). Author Affiliation: (a) Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria (b) Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia; (c) University of Sydney Department of Ophthalmology, Centre for Vision Research, Westmead Hospital, Westmead, New South Wales (d) The Menzies Centre for Population Health Research, University of Tasmania, Hobart, Tasmania, Australia. Article History: Accepted 29 November 2004 Article Note: (footnote) This authors received support from the Dorothy Edols Trust and the Australian National Health & Medical Research Council.

Published
2005

177. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Author

Zhan, Xiaowei, primary, Larson, David E, additional, Wang, Chaolong, additional, Koboldt, Daniel C, additional, Sergeev, Yuri V, additional, Fulton, Robert S, additional, Fulton, Lucinda L, additional, Fronick, Catrina C, additional, Branham, Kari E, additional, Bragg-Gresham, Jennifer, additional, Jun, Goo, additional, Hu, Youna, additional, Kang, Hyun Min, additional, Liu, Dajiang, additional, Othman, Mohammad, additional, Brooks, Matthew, additional, Ratnapriya, Rinki, additional, Boleda, Alexis, additional, Grassmann, Felix, additional, von Strachwitz, Claudia, additional, Olson, Lana M, additional, Buitendijk, Gabriëlle H S, additional, Hofman, Albert, additional, van Duijn, Cornelia M, additional, Cipriani, Valentina, additional, Moore, Anthony T, additional, Shahid, Humma, additional, Jiang, Yingda, additional, Conley, Yvette P, additional, Morgan, Denise J, additional, Kim, Ivana K, additional, Johnson, Matthew P, additional, Cantsilieris, Stuart, additional, Richardson, Andrea J, additional, Guymer, Robyn H, additional, Luo, Hongrong, additional, Ouyang, Hong, additional, Licht, Christoph, additional, Pluthero, Fred G, additional, Zhang, Mindy M, additional, Zhang, Kang, additional, Baird, Paul N, additional, Blangero, John, additional, Klein, Michael L, additional, Farrer, Lindsay A, additional, DeAngelis, Margaret M, additional, Weeks, Daniel E, additional, Gorin, Michael B, additional, Yates, John R W, additional, Klaver, Caroline C W, additional, Pericak-Vance, Margaret A, additional, Haines, Jonathan L, additional, Weber, Bernhard H F, additional, Wilson, Richard K, additional, Heckenlively, John R, additional, Chew, Emily Y, additional, Stambolian, Dwight, additional, Mardis, Elaine R, additional, Swaroop, Anand, additional, and Abecasis, Goncalo R, additional

Published
2013
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179. THE PREVALENCE AND RISK FACTORS OF EPIRETINAL MEMBRANES

Author

Aung, Khin Z., primary, Makeyeva, Galina, additional, Adams, Madeleine K., additional, Chong, Elaine W.-T., additional, Busija, Lucy, additional, Giles, Graham G., additional, English, Dallas R., additional, Hopper, John, additional, Baird, Paul N., additional, Guymer, Robyn H., additional, and Robman, Liubov D., additional

Published
2013
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180. Genetic Association of Refractive Error and Axial Length with 15q14 but Not 15q25 in the Blue Mountains Eye Study Cohort

Author

Schache, Maria, primary, Richardson, Andrea J., additional, Mitchell, Paul, additional, Wang, Jie Jin, additional, Rochtchina, Elena, additional, Viswanathan, Ananth C., additional, Wong, Tien Y., additional, Saw, Seang Mei, additional, Topouzis, Fotis, additional, Xie, Jing, additional, Sim, Xueling, additional, Holliday, Elizabeth G., additional, Attia, John, additional, Scott, Rodney J., additional, and Baird, Paul N., additional

Published
2013
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184. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Author

Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N. Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., 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, Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja, Mills, Richard A., Staffieri, Sandra E., Jonas, Jost B., Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H., Lucas, Sionne E. M., Beutel, Manfred E., Wilson, James F., Allingham, R. Rand, Brilliant, Murray H., Budenz, Donald L., Christen, William G., Fingert, John, Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Hauser, Michael A., Kraft, Peter, Lee, Richard K., Lichter, Paul R., Liu, Yutao, Loomis, Stephanie J., Moroi, Sayoko E., Pericak-Vance, Margaret A., Realini, Anthony, Richards, Julia E., Schuman, Joel S., Scott, William K., Singh, Kuldev, Sit, Arthur J., Vollrath, Douglas, Weinreb, Robert N., Wollstein, Gadi, Zack, Donald J., Zhang, Kang, Donnelly, Peter, Barroso, 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., 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, 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, Uitterlinden, André G., Vithana, Eranga N., Foster, Paul J., Hysi, Pirro G., Hewitt, Alex W., Khor, Chiea Chuen, Pasquale, Louis R., Montgomery, Grant W., Klaver, Caroline C. W., Aung, Tin, Pfeiffer, Norbert, Mackey, David A., Hammond, Christopher J., Cheng, Ching-Yu, Craig, Jamie E., Rabinowitz, Yaron S., Wiggs, Janey L., Burdon, Kathryn P., van Duijn, Cornelia M., and MacGregor, Stuart

Abstract

Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = −0.62, P = 5.30 × 10−5) but not between CCT and primary open-angle glaucoma (r = −0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.

Published
2018
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185. A genome-wide association study of corneal astigmatism: The CREAM Consortium

Author

Shah, Rupal L., Li, Qing, Zhao, Wanting, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Fan, Qiao, Yazar, Seyhan, Williams, Katie M., Verhoeven, Virginie J.M., Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J., Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, André, Rivadeneira, Fernando, Jaddoe, Vincent W.V., Hysi, Pirro G., Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R., Jonas, Jost B., Mitchell, Paul, Hammond, Christopher J., Höhn, René, Baird, Paul N., Wong, Tien-Yin, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A., Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C.W., Guggenheim, Jeremy A., and Bailey-Wilson, Joan E.

Abstract

Purpose To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08–1.16), p=5.55×10−9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans—claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

Published
2018

186. Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.

Author

Jwu Jin Khong, Burdon, Kathryn P., Yi Lu, Laurie, Kate, Leonardos, Lefta, Baird, Paul N., Sahebjada, Srujana, Walsh, John P., Gajdatsy, Adam, Ebeling, Peter R., Hamblin, Peter Shane, Wong, Rosemary, Forehan, Simon P., Fourlanos, Spiros, Roberts, Anthony P., Doogue, Matthew, Selva, Dinesh, Montgomery, Grant W., Macgregor, Stuart, and Craig, Jamie E.

Subjects
GRAVES' disease, GENOMES, AUTOIMMUNE diseases, GENETICS, RATING
Abstract

Background: Graves' disease is an autoimmune thyroid disease of complex inheritance. Multiple genetic susceptibility loci are thought to be involved in Graves' disease and it is therefore likely that these can be identified by genome wide association studies. This study aimed to determine if a genome wide association study, using a pooling methodology, could detect genomic loci associated with Graves' disease. Results: Nineteen of the top ranking single nucleotide polymorphisms including HLA-DQA1 and C6orf10, were clustered within the Major Histo-compatibility Complex region on chromosome 6p21, with rs1613056 reaching genome wide significance (p = 5 × 10-8). Technical validation of top ranking non-Major Histo-compatablity complex single nucleotide polymorphisms with individual genotyping in the discovery cohort revealed four single nucleotide polymorphisms with p ≤ 10-4. Rs17676303 on chromosome 1q23.1, located upstream of FCRL3, showed evidence of association with Graves' disease across the discovery, replication and combined cohorts. A second single nucleotide polymorphism rs9644119 downstream of DPYSL2 showed some evidence of association supported by finding in the replication cohort that warrants further study. Conclusions: Pooled genome wide association study identified a genetic variant upstream of FCRL3 as a susceptibility locus for Graves' disease in addition to those identified in the Major Histo-compatibility Complex. A second locus downstream of DPYSL2 is potentially a novel genetic variant in Graves' disease that requires further confirmation. [ABSTRACT FROM AUTHOR]

Published
2016
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188. Genetic Loci for Retinal Arteriolar Microcirculation

Author

Xueling, Sim, Jensen, Richard A., Kamran Ikram, M., Mary Frances Cotch, Xiaohui, Li, Stuart, Macgregor, Jing, Xie, Albert Vernon Smith, Eric, Boerwinkle, Paul, Mitchell, Ronald, Klein, Klein, Barbara E. K., Glazer, Nicole L., Thomas, Lumley, Barbara, Mcknight, Psaty, Bruce M., de Jong, Paulus T. V. M., Albert, Hofman, Fernando, Rivadeneira, Uitterlinden, Andre G., van Duijn, Cornelia M., Thor, Aspelund, Gudny, Eiriksdottir, Harris, Tamara B., Fridbert, Jonasson, Launer, Lenore J., John, Attia, Baird, Paul N., Stephen, Harrap, Holliday, Elizabeth G., Michael, Inouye, Elena, Rochtchina, Scott, Rodney J., Ananth, Viswanathan, Guo, Li, Smith, Nicholas L., Wiggins, Kerri L., Kuo, Jane Z., Taylor, Kent D., Hewitt, Alex W., Martin, Nicholas G., Montgomery, Grant W., Cong, Sun, Young, Terri L., Mackey, David A., van Zuydam, Natalie R., Doney, Alex S. F., Palmer, Colin N. A., Morris, Andrew D., Rotter, Jerome I., Shyong Tai, E., Vilmundur, Gudnason, Vingerling, Johannes R., Siscovick, David S., Jie Jin Wang, Wong, Tien Y., Donnelly, P, Barroso, I, Blackwell, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, Hs, Mathew, Cg, Palmer, Cn, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cc, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Mathew, C, Mccarthy, Mi, Newton Cheh, C, Johnson, T, Gateva, V, Tobin, Md, Bochud, M, Coin, L, Najjar, Ss, Zhao, Jh, Heath, Sc, Eyheramendy, S, Papadakis, K, Voight, Bf, Scott, Lj, Zhang, F, Farrall, M, Tanaka, T, Wallace, C, Chambers, Jc, Khaw, Kt, Nilsson, P, van der Harst, P, Polidoro, Silvia, Grobbee, De, Onland Moret NC, Bots, Ml, Wain, Lv, Elliott, Ks, Teumer, A, Luan, J, Lucas, G, Kuusisto, J, Burton, Pr, Hadley, D, Mcardle, Wl, Brown, M, Dominiczak, A, Newhouse, Sj, Samani, Nj, Webster, J, Zeggini, E, Beckmann, Js, Bergmann, S, Lim, N, Song, K, Vollenweider, P, Waeber, G, Waterworth, Dm, Yuan, X, Groop, L, Orho Melander, M, Allione, A, Di Gregorio, A, Guarrera, Simonetta, Panico, S, Ricceri, Fulvio, Romanazzi, V, Sacerdote, Carlotta, Vineis, Paolo, Sandhu, Ms, Luben, Rn, Crawford, Gj, Jousilahti, P, Perola, M, Boehnke, M, Bonnycastle, Ll, Collins, Fs, Jackson, Au, Mohlke, Kl, Stringham, Hm, Valle, Tt, Willer, Cj, Bergman, Rn, Morken, Ma, Döring, A, Gieger, C, Illig, T, Meitinger, T, Org, E, Pfeufer, A, Wichmann, He, Kathiresan, S, Marrugat, J, O'Donnell, Cj, Schwartz, Sm, Siscovick, Ds, Subirana, I, Freimer, Nb, Hartikainen, Al, O'Reilly, Pf, Peltonen, L, Pouta, A, de Jong PE, Snieder, H, van Gilst WH, Clarke, R, Goel, A, Hamsten, A, Peden, Jf, Seedorf, U, Syvänen, Ac, Tognoni, G, Lakatta, Eg, Sanna, S, Scheet, P, Schlessinger, D, Scuteri, A, Dörr, M, Ernst, F, Felix, Sb, Homuth, G, Lorbeer, R, Reffelmann, T, Rettig, R, Völker, U, Galan, P, Gut, Ig, Hercberg, S, Lathrop, Gm, Zeleneka, D, Soranzo, N, Williams, Fm, Zhai, G, Salomaa, V, Laakso, M, Elosua, R, Forouhi, Ng, Völzke, H, Uiterwaal, Cs, van der Schouw YT, Numans, Me, Matullo, Giuseppe, Navis, G, Berglund, G, Bingham, Sa, Kooner, Js, Connell, Jm, Bandinelli, S, Ferrucci, L, Watkins, H, Spector, Td, Tuomilehto, J, Altshuler, D, Strachan, Dp, Laan, M, Meneton, P, Wareham, Nj, Uda, M, Jarvelin, Mr, Mooser, V, Melander, O, Loos, Rj, Elliott, P, Abecasis, Gr, Caulfield, M, Munroe, P. B., Inouye, Michael [0000-0001-9413-6520], Apollo - University of Cambridge Repository, Cardiovascular Centre (CVC), Life Course Epidemiology (LCE), Wellcome Trust Case Control Consortium 2, Global BPGen Consortium, Donnelly, P., Barroso, I., Blackwell, J.M., Bramon, E., Brown, M.A., Casas, J.P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H.S., Mathew, C.G., Palmer, C.N., Plomin, R., Rautanen, A., Sawcer, S.J., Trembath, R.C., Viswanathan, A.C., Wood, N.W., Spencer, C.C., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Langford, C., Hunt, S.E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S.J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O.T., Liddle, J., Potter, S.C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Mathew, C., McCarthy, M.I., Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M.D., Bochud, M., Coin, L., Najjar, S.S., Zhao, J.H., Heath, S.C., Eyheramendy, S., Papadakis, K., Voight, B.F., Scott, L.J., Zhang, F., Farrall, M., Tanaka, T., Wallace, C., Chambers, J.C., Khaw, K.T., Nilsson, P., van der Harst, P., Polidoro, S., Grobbee, D.E., Onland-Moret, N.C., Bots, M.L., Wain, L.V., Elliott, K.S., Teumer, A., Luan, J.J., Lucas, G., Kuusisto, J., Burton, P.R., Hadley, D., McArdle, W.L., Brown, M., Dominiczak, A., Newhouse, S.J., Samani, N.J., Webster, J., Zeggini, E., Beckmann, J.S., Bergmann, S., Lim, N., Song, K., Vollenweider, P., Waeber, G., Waterworth, D.M., Yuan, X., Groop, L., Orho-Melander, M., Allione, A., Di Gregorio, A., Guarrera, S., Panico, S., Ricceri, F., Romanazzi, V., Sacerdote, C., Vineis, P., Sandhu, M.S., Luben, R.N., Crawford, G.J., Jousilahti, P., Perola, M., Boehnke, M., Bonnycastle, L.L., Collins, F.S., Jackson, A.U., Mohlke, K.L., Stringham, H.M., Valle, T.T., Willer, C.J., Bergman, R.N., Morken, M.A., Döring, A., Gieger, C., Illig, T., Meitinger, T., Org, E., Pfeufer, A., Wichmann, H.E., Kathiresan, S., Marrugat, J., O'Donnell, C.J., Schwartz, S.M., Siscovick, D.S., Subirana, I., Freimer, N.B., Hartikainen, A.L., O'Reilly, P.F., Peltonen, L., Pouta, A., de Jong, P.E., Snieder, H., van Gilst, W.H., Clarke, R., Goel, A., Hamsten, A., Peden, J.F., Seedorf, U., Syvänen, A.C., Tognoni, G., Lakatta, E.G., Sanna, S., Scheet, P., Schlessinger, D., Scuteri, A., Dörr, M., Ernst, F., Felix, S.B., Homuth, G., Lorbeer, R., Reffelmann, T., Rettig, R., Völker, U., Galan, P., Gut, I.G., Hercberg, S., Lathrop, G.M., Zeleneka, D., Soranzo, N., Williams, F.M., Zhai, G., Salomaa, V., Laakso, M., Elosua, R., Forouhi, N.G., Völzke, H., Uiterwaal, C.S., van der Schouw, Y.T., Numans, M.E., Matullo, G., Navis, G., Berglund, G., Bingham, S.A., Kooner, J.S., Connell, J.M., Bandinelli, S., Ferrucci, L., Watkins, H., Spector, T.D., Tuomilehto, J., Altshuler, D., Strachan, D.P., Laan, M., Meneton, P., Wareham, N.J., Uda, M., Jarvelin, M.R., Mooser, V., Melander, O., Loos, R.J., Elliott, P., Abecasis, G.R., Caulfield, M., Munroe, P.B., Ophthalmology, Epidemiology, Internal Medicine, Erasmus School of Social and Behavioural Sciences, and Obstetrics & Gynecology

Subjects
Male, Pathology, BLUE MOUNTAINS EYE, VESSEL DIAMETERS, lcsh:Medicine, MICROVASCULAR ABNORMALITIES, Genome-wide association study, Cardiovascular, Coronary artery disease, chemistry.chemical_compound, 0302 clinical medicine, genome-wide association, Microcirculation, Retinal Arteriolar Microcirculation, Myocardial infarction, lcsh:Science, Aged, 80 and over, Medicine(all), 0303 health sciences, Multidisciplinary, Agricultural and Biological Sciences(all), MEF2 Transcription Factors, Genomics, Middle Aged, 3. Good health, Arterioles, medicine.anatomical_structure, Medicine, Chromosomes, Human, Pair 5, Female, INCIDENT SEVERE HYPERTENSION, Research Article, medicine.medical_specialty, Genotype, Clinical Research Design, ANTIHYPERTENSIVE DRUG THERAPIES, Single-nucleotide polymorphism, White People, 03 medical and health sciences, Genome Analysis Tools, Vascular Biology, BEAVER DAM EYE, Genetics, Genome-Wide Association Studies, medicine, Humans, CORONARY-HEART-DISEASE, GENOME-WIDE ASSOCIATION, Biology, Aged, 030304 developmental biology, Retina, Models, Genetic, Biochemistry, Genetics and Molecular Biology(all), Vascular disease, business.industry, lcsh:R, Computational Biology, Retinal Vessels, Human Genetics, Retinal, medicine.disease, Ophthalmology, chemistry, Genetic Loci, VASCULAR CALIBER, 030221 ophthalmology & optometry, lcsh:Q, Meta-Analyses, GENE/ENVIRONMENT SUSCEPTIBILITY-REYKJAVIK, business, Genome-Wide Association Study
Abstract

Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in 18,722 unrelated individuals of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium and the Blue Mountain Eye Study, to identify genetic determinants associated with variations in retinal arteriolar caliber. Retinal vascular calibers were measured on digitized retinal photographs using a standardized protocol. One variant (rs2194025 on chromosome 5q14 near the myocyte enhancer factor 2C MEF2C gene) was associated with retinal arteriolar caliber in the meta-analysis of the discovery cohorts at genome-wide significance of P-value -8. This variant was replicated in an additional 3,939 individuals of European ancestry from the Australian Twins Study and Multi-Ethnic Study of Atherosclerosis (rs2194025, P-value = 2.11×10-12 in combined meta-analysis of discovery and replication cohorts). In independent studies of modest sample sizes, no significant association was found between this variant and clinical outcomes including coronary artery disease, stroke, myocardial infarction or hypertension. In conclusion, we found one novel loci which underlie genetic variation in microvasculature which may be relevant to vascular disease. The relevance of these findings to clinical outcomes remains to be determined.

Published
2013

190. Hypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration

Author

Wei, Lai, primary, Liu, Baoying, additional, Tuo, Jingsheng, additional, Shen, Defen, additional, Chen, Ping, additional, Li, Zhiyu, additional, Liu, Xunxian, additional, Ni, Jia, additional, Dagur, Pradeep, additional, Sen, H. Nida, additional, Jawad, Shayma, additional, Ling, Diamond, additional, Park, Stanley, additional, Chakrabarty, Sagarika, additional, Meyerle, Catherine, additional, Agron, Elvira, additional, Ferris, Frederick L., additional, Chew, Emily Y., additional, McCoy, J. Philip, additional, Blum, Emily, additional, Francis, Peter J., additional, Klein, Michael L., additional, Guymer, Robyn H., additional, Baird, Paul N., additional, Chan, Chi-Chao, additional, and Nussenblatt, Robert B., additional

Published
2012
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192. Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-related Macular Degeneration Subtypes

Author

Sobrin, Lucia, primary, Ripke, Stephan, additional, Yu, Yi, additional, Fagerness, Jesen, additional, Bhangale, Tushar R., additional, Tan, Perciliz L., additional, Souied, Eric H., additional, Buitendijk, Gabriëlle H.S., additional, Merriam, Joanna E., additional, Richardson, Andrea J., additional, Raychaudhuri, Soumya, additional, Reynolds, Robyn, additional, Chin, Kimberly A., additional, Lee, Aaron Y., additional, Leveziel, Nicolas, additional, Zack, Donald J., additional, Campochiaro, Peter, additional, Smith, R. Theodore, additional, Barile, Gaetano R., additional, Hogg, Ruth E., additional, Chakravarthy, Usha, additional, Behrens, Timothy W., additional, Uitterlinden, André G., additional, van Duijn, Cornelia M., additional, Vingerling, Johannes R., additional, Brantley, Milam A., additional, Baird, Paul N., additional, Klaver, Caroline C.W., additional, Allikmets, Rando, additional, Katsanis, Nicholas, additional, Graham, Robert R., additional, Ioannidis, John P.A., additional, Daly, Mark J., additional, and Seddon, Johanna M., additional

Published
2012
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193. Can genetic associations change with age? CFH and age-related macular degeneration

Author

Adams, Madeleine K.M., primary, Simpson, Julie A., additional, Richardson, Andrea J., additional, Guymer, Robyn H., additional, Williamson, Elizabeth, additional, Cantsilieris, Stuart, additional, English, Dallas R., additional, Aung, Khin Zaw, additional, Makeyeva, Galina A., additional, Giles, Graham G., additional, Hopper, John, additional, Robman, Liubov D., additional, and Baird, Paul N., additional

Published
2012
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194. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., primary, Hysi, Pirro G., additional, Saw, Seang-Mei, additional, Vitart, Veronique, additional, Mirshahi, Alireza, additional, Guggenheim, Jeremy A., additional, Cotch, Mary Frances, additional, Yamashiro, Kenji, additional, Baird, Paul N., additional, Mackey, David A., additional, Wojciechowski, Robert, additional, Ikram, M. Kamran, additional, Hewitt, Alex W., additional, Duggal, Priya, additional, Janmahasatian, Sarayut, additional, Khor, Chiea-Chuen, additional, Fan, Qiao, additional, Zhou, Xin, additional, Young, Terri L., additional, Tai, E-Shyong, additional, Goh, Liang-Kee, additional, Li, Yi-Ju, additional, Aung, Tin, additional, Vithana, Eranga, additional, Teo, Yik-Ying, additional, Tay, Wanting, additional, Sim, Xueling, additional, Rudan, Igor, additional, Hayward, Caroline, additional, Wright, Alan F., additional, Polasek, Ozren, additional, Campbell, Harry, additional, Wilson, James F., additional, Fleck, Brian W., additional, Nakata, Isao, additional, Yoshimura, Nagahisa, additional, Yamada, Ryo, additional, Matsuda, Fumihiko, additional, Ohno-Matsui, Kyoko, additional, Nag, Abhishek, additional, McMahon, George, additional, Pourcain, Beate St., additional, Lu, Yi, additional, Rahi, Jugnoo S., additional, Cumberland, Phillippa M., additional, Bhattacharya, Shomi, additional, Simpson, Claire L., additional, Atwood, Larry D., additional, Li, Xiaohui, additional, Raffel, Leslie J., additional, Murgia, Federico, additional, Portas, Laura, additional, Despriet, Dominiek D. G., additional, van Koolwijk, Leonieke M. E., additional, Wolfram, Christian, additional, Lackner, Karl J., additional, Tönjes, Anke, additional, Mägi, Reedik, additional, Lehtimäki, Terho, additional, Kähönen, Mika, additional, Esko, Tõnu, additional, Metspalu, Andres, additional, Rantanen, Taina, additional, Pärssinen, Olavi, additional, Klein, Barbara E., additional, Meitinger, Thomas, additional, Spector, Timothy D., additional, Oostra, Ben A., additional, Smith, Albert V., additional, de Jong, Paulus T. V. M., additional, Hofman, Albert, additional, Amin, Najaf, additional, Karssen, Lennart C., additional, Rivadeneira, Fernando, additional, Vingerling, Johannes R., additional, Eiríksdóttir, Guðný, additional, Gudnason, Vilmundur, additional, Döring, Angela, additional, Bettecken, Thomas, additional, Uitterlinden, André G., additional, Williams, Cathy, additional, Zeller, Tanja, additional, Castagné, Raphaële, additional, Oexle, Konrad, additional, van Duijn, Cornelia M., additional, Iyengar, Sudha K., additional, Mitchell, Paul, additional, Wang, Jie Jin, additional, Höhn, René, additional, Pfeiffer, Norbert, additional, Bailey-Wilson, Joan E., additional, Stambolian, Dwight, additional, Wong, Tien-Yin, additional, Hammond, Christopher J., additional, and Klaver, Caroline C. W., additional

Published
2012
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198. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Author

Spain, Sarah L., primary, Carvajal-Carmona, Luis G., additional, Howarth, Kimberley M., additional, Jones, Angela M., additional, Su, Zhan, additional, Cazier, Jean-Baptiste, additional, Williams, Jennet, additional, Aaltonen, Lauri A., additional, Pharoah, Paul, additional, Kerr, David J., additional, Cheadle, Jeremy, additional, Li, Li, additional, Casey, Graham, additional, Vodicka, Pavel, additional, Sieber, Oliver, additional, Lipton, Lara, additional, Gibbs, Peter, additional, Martin, Nicholas G., additional, Montgomery, Grant W., additional, Young, Joanne, additional, Baird, Paul N., additional, Morreau, Hans, additional, van Wezel, Tom, additional, Ruiz-Ponte, Clara, additional, Fernandez-Rozadilla, Ceres, additional, Carracedo, Angel, additional, Castells, Antoni, additional, Castellvi-Bel, Sergi, additional, Dunlop, Malcolm, additional, Houlston, Richard S., additional, and Tomlinson, Ian P.M., additional

Published
2011
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199. Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studies

Author

McKay, Gareth J., primary, Patterson, Chris C., additional, Chakravarthy, Usha, additional, Dasari, Shilpa, additional, Klaver, Caroline C., additional, Vingerling, Johannes R., additional, Ho, Lintje, additional, de Jong, Paulus T.V.M., additional, Fletcher, Astrid E., additional, Young, Ian S., additional, Seland, Johan H., additional, Rahu, Mati, additional, Soubrane, Gisele, additional, Tomazzoli, Laura, additional, Topouzis, Fotis, additional, Vioque, Jesus, additional, Hingorani, Aroon D., additional, Sofat, Reecha, additional, Dean, Michael, additional, Sawitzke, Julie, additional, Seddon, Johanna M., additional, Peter, Inga, additional, Webster, Andrew R., additional, Moore, Anthony T., additional, Yates, John R.W., additional, Cipriani, Valentina, additional, Fritsche, Lars G., additional, Weber, Bernhard H.F., additional, Keilhauer, Claudia N., additional, Lotery, Andrew J., additional, Ennis, Sarah, additional, Klein, Michael L., additional, Francis, Peter J., additional, Stambolian, Dwight, additional, Orlin, Anton, additional, Gorin, Michael B., additional, Weeks, Daniel E., additional, Kuo, Chia-Ling, additional, Swaroop, Anand, additional, Othman, Mohammad, additional, Kanda, Atsuhiro, additional, Chen, Wei, additional, Abecasis, Goncalo R., additional, Wright, Alan F., additional, Hayward, Caroline, additional, Baird, Paul N., additional, Guymer, Robyn H., additional, Attia, John, additional, Thakkinstian, Ammarin, additional, and Silvestri, Giuliana, additional

Published
2011
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200. Identification of Urinary Biomarkers for Age-Related Macular Degeneration

Author

Guymer, Robyn H., primary, Tao, Lingwei W., additional, Goh, Jonathan K., additional, Liew, Danny, additional, Ischenko, Olga, additional, Robman, Liubov D., additional, Aung, KhinZaw, additional, Cipriani, Tania, additional, Cain, Melinda, additional, Richardson, Andrea J., additional, Baird, Paul N., additional, and Langham, Robyn, additional

Published
2011
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