R
R. Theodore Smith
Researcher at New York Eye and Ear Infirmary
Publications - 144
Citations - 10646
R. Theodore Smith is an academic researcher from New York Eye and Ear Infirmary. The author has contributed to research in topics: Macular degeneration & Drusen. The author has an hindex of 39, co-authored 139 publications receiving 9312 citations. Previous affiliations of R. Theodore Smith include University of Southern California & New York University.
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Journal ArticleDOI
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
Gregory S. Hageman,Don H. Anderson,Lincoln V. Johnson,Lisa S. Hancox,Andrew J Taiber,Lisa I. Hardisty,Jill L. Hageman,Heather Stockman,James D. Borchardt,Karen M. Gehrs,Richard J.H. Smith,Giuliana Silvestri,Stephen R. Russell,Caroline C W Klaver,Irene Barbazetto,Stanley Chang,Lawrence A. Yannuzzi,Gaetano R. Barile,John C. Merriam,R. Theodore Smith,Adam Olsh,Julie Bergeron,Jana Zernant,Joanna E. Merriam,Bert Gold,Michael Dean,Rando Allikmets +26 more
TL;DR: It is shown that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium, implicating HF1 function in the pathogenetic mechanisms underlying AMD.
Journal ArticleDOI
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
Bert Gold,Joanna E. Merriam,Jana Zernant,Lisa S. Hancox,Andrew J Taiber,Karen M. Gehrs,Kevin Cramer,Julia Neel,Julie Bergeron,Gaetano R. Barile,R. Theodore Smith,Gregory S. Hageman,Michael Dean,Rando Allikmets +13 more
TL;DR: Combined analysis of the C2 and BF haplotypes and CFH variants shows that variation in the two loci can predict the clinical outcome in 74% of the affected individuals and 56% ofThe controls, expanding and refine the understanding of the genetic risk for AMD.
Journal ArticleDOI
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche,Wilmar Igl,Jessica N. Cooke Bailey,Felix Grassmann,Sebanti Sengupta,Jennifer L. Bragg-Gresham,Kathryn P. Burdon,Scott J. Hebbring,Cindy Wen,Mathias Gorski,Ivana K. Kim,David Cho,Donald J. Zack,Donald J. Zack,Eric H. Souied,Hendrik P. N. Scholl,Hendrik P. N. Scholl,Elisa Bala,Kristine ELee,David J. Hunter,Rebecca J. Sardell,Paul Mitchell,Joanna E. Merriam,Valentina Cipriani,Valentina Cipriani,Joshua D. Hoffman,Tina Schick,Yara T. E. Lechanteur,Robyn H. Guymer,Matthew P. Johnson,Yingda Jiang,Chloe M. Stanton,Gabri'lle H.S. Buitendijk,Xiaowei Zhan,Xiaowei Zhan,Alan M. Kwong,Alexis Boleda,Matthew Brooks,Linn Gieser,Rinki Ratnapriya,Kari Branham,Johanna R. Foerster,John R. Heckenlively,Mohammad Othman,Brendan J. Vote,Helena Liang,Emmanuelle Souzeau,Ian L. McAllister,Timothy Isaacs,Janette Hall,Stewart Lake,David A. Mackey,David A. Mackey,David A. Mackey,Ian J. Constable,Jamie E Craig,Terrie Kitchner,Zhenglin Yang,Zhenglin Yang,Zhiguang Su,Hongrong Luo,Daniel Chen,Hong Ouyang,Ken Flagg,Danni Lin,Guanping Mao,Henry Ferreyra,Klaus Stark,Claudia N von Strachwitz,Armin Wolf,Caroline Brandl,G. Rudolph,Matthias Olden,Margaux A. Morrison,Denise J. Morgan,Matthew Schu,Jeeyun Ahn,Giuliana Silvestri,Evangelia E. Tsironi,Kyu Hyung Park,Lindsay A. Farrer,Anton Orlin,Alexander J. Brucker,Mingyao Li,Christine A. Curcio,Saddek Mohand-Sa'd,José-Alain Sahel,Isabelle Audo,Mustapha Benchaboune,Angela J. Cree,Christina A Rennie,S. V. Goverdhan,Michelle Grunin,Shira Hagbi-Levi,Peter A. Campochiaro,Nicholas Katsanis,Frank G. Holz,Frédéric Blond,Frédéric Blond,Frédéric Blond,Hél'ne Blanché,Jean Fran ois Deleuze,Robert P. Igo,Barbara Truitt,Neal S. Peachey,Neal S. Peachey,Stacy M. Meuer,Chelsea E. Myers,Emily L. Moore,Ronald Klein,Michael A. Hauser,Eric A. Postel,Monique D. Courtenay,Stephen G. Schwartz,Jaclyn L. Kovach,William K. Scott,Gerald Liew,Ava Grace Tan,Bamini Gopinath,John C. Merriam,R. Theodore Smith,R. Theodore Smith,Jane C. Khan,Jane C. Khan,Jane C. Khan,Humma Shahid,Humma Shahid,Anthony T. Moore,Anthony T. Moore,Anthony T. Moore,J Allie McGrath,Renee Laux,Milam A. Brantley,Anita Agarwal,Lebriz Ersoy,Albert Caramoy,Thomas Langmann,Nicole T.M. Saksens,Eiko Kde Jong,Carel B. Hoyng,Melinda Cain,Andrea J. Richardson,Tammy M. Martin,John Blangero,Daniel E. Weeks,Bal Dhillon,Cornelia M. van Duijn,Kimberly F. Doheny,Jane Romm,Caroline C W Klaver,Caroline Hayward,Michael B. Gorin,Michael L. Klein,Paul N. Baird,Anneke I. den Hollander,Sascha Fauser,John R. WYates,John R. WYates,John R. WYates,Rando Allikmets,Jie Jin Wang,Debra A. Schaumberg,Debra A. Schaumberg,Barbara E.K. Klein,Stephanie A. Hagstrom,Itay Chowers,Andrew J. Lotery,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Kang Zhang,Kang Zhang,Murray H. Brilliant,Alex W. Hewitt,Alex W. Hewitt,Alex W. Hewitt,Anand Swaroop,Emily Y. Chew,Margaret A. Pericak-Vance,Margaret M. DeAngelis,Dwight Stambolian,Jonathan L. Haines,Sudha K. Iyengar,Bernhard H. F. Weber,Gon'alo R. Abecasis,Iris M. Heid +185 more
TL;DR: The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
Journal ArticleDOI
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche,Lars G. Fritsche,Wei Chen,Wei Chen,Matthew Schu,Brian L. Yaspan,Yi Yu,Gudmar Thorleifsson,Donald J. Zack,Donald J. Zack,Satoshi Arakawa,Valentina Cipriani,Valentina Cipriani,Stephan Ripke,Stephan Ripke,Robert P. Igo,Gabriëlle H.S. Buitendijk,Xueling Sim,Xueling Sim,Daniel E. Weeks,Robyn H. Guymer,Joanna E. Merriam,Peter J. Francis,Gregory Hannum,Anita Agarwal,Ana Maria Armbrecht,Isabelle Audo,Tin Aung,Tin Aung,Gaetano R. Barile,Mustapha Benchaboune,Alan C. Bird,Alan C. Bird,Paul N. Bishop,Kari Branham,Matthew Brooks,Alexander J. Brucker,William Cade,Melinda Cain,Peter A. Campochiaro,Chi-Chao Chan,Ching-Yu Cheng,Ching-Yu Cheng,Emily Y. Chew,Kimberly A Chin,Itay Chowers,David Clayton,Radu Cojocaru,Yvette P. Conley,Belinda K. Cornes,Mark J. Daly,Baljean Dhillon,Albert O. Edwards,Evangelos Evangelou,Jesen Fagerness,Jesen Fagerness,Henry Ferreyra,James S. Friedman,Asbjorg Geirsdottir,Ronnie George,Christian Gieger,Neel Gupta,Stephanie A. Hagstrom,Simon P. Harding,Christos Haritoglou,John R. Heckenlively,Frank G. Holz,Guy Hughes,John P. A. Ioannidis,Tatsuro Ishibashi,Peronne Joseph,Gyungah Jun,Yoichiro Kamatani,Nicholas Katsanis,Claudia N. Keilhauer,Jane C. Khan,Jane C. Khan,Jane C. Khan,Ivana K. Kim,Yutaka Kiyohara,Barbara E.K. Klein,Ronald Klein,Jaclyn L. Kovach,Igor Kozak,Clara Lee,Kristine E. Lee,Peter Lichtner,Andrew J. Lotery,Thomas Meitinger,Paul Mitchell,Saddek Mohand-Said,Anthony T. Moore,Anthony T. Moore,Denise J. Morgan,Margaux A. Morrison,Chelsea E. Myers,Adam C. Naj,Yusuke Nakamura,Yukinori Okada,Anton Orlin,M. Carolina Ortube,Mohammad Othman,Chris Pappas,Kyu Hyung Park,Gayle J.T. Pauer,Neal S. Peachey,Neal S. Peachey,Olivier Poch,Rinki Ratna Priya,Robyn Reynolds,Andrea J. Richardson,Raymond Ripp,G. Rudolph,Euijung Ryu,José-Alain Sahel,Debra A. Schaumberg,Hendrik P. N. Scholl,Hendrik P. N. Scholl,Stephen G. Schwartz,William K. Scott,Humma Shahid,Humma Shahid,Haraldur Sigurdsson,Giuliana Silvestri,Theru A. Sivakumaran,R. Theodore Smith,Lucia Sobrin,Eric H Souied,Dwight Stambolian,Hreinn Stefansson,Gwen M. Sturgill-Short,Atsushi Takahashi,Nirubol Tosakulwong,Barbara Truitt,Evangelia E. Tsironi,André G. Uitterlinden,Cornelia M. van Duijn,Lingam Vijaya,Johannes R. Vingerling,Eranga N. Vithana,Eranga N. Vithana,Andrew R. Webster,Andrew R. Webster,H.-Erich Wichmann,Thomas W. Winkler,Tien Yin Wong,Tien Yin Wong,Tien Yin Wong,Alan F. Wright,Diana Zelenika,Ming Zhang,Ming Zhang,Ling Zhao,Kang Zhang,Kang Zhang,Michael L. Klein,Gregory S. Hageman,Mark Lathrop,Kari Stefansson,Kari Stefansson,Rando Allikmets,Paul N. Baird,Michael B. Gorin,Jie Jin Wang,Jie Jin Wang,Caroline C W Klaver,Johanna M. Seddon,Margaret A. Pericak-Vance,Sudha K. Iyengar,John R.W. Yates,John R.W. Yates,John R.W. Yates,Anand Swaroop,Anand Swaroop,Bernhard H. F. Weber,Michiaki Kubo,Margaret M. DeAngelis,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Jonathan L. Haines,Lindsay A. Farrer,Iris M. Heid,Gonçalo R. Abecasis +185 more
TL;DR: A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.
Journal ArticleDOI
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Benjamin M. Neale,Jesen Fagerness,Jesen Fagerness,Robyn Reynolds,Lucia Sobrin,Margaret M. Parker,Soumya Raychaudhuri,Soumya Raychaudhuri,Perciliz L. Tan,Edwin C. Oh,Joanna E. Merriam,Eric H. Souied,Paul S. Bernstein,Binxing Li,Jeanne M. Frederick,Kang Zhang,Kang Zhang,Milam A. Brantley,Aaron Y. Lee,Donald J. Zack,Betsy Campochiaro,Peter A. Campochiaro,Stephan Ripke,Stephan Ripke,R. Theodore Smith,Gaetano R. Barile,Nicholas Katsanis,Rando Allikmets,Mark J. Daly,Mark J. Daly,Johanna M. Seddon +30 more
TL;DR: A genome-wide association study of advanced age-related macular degeneration cases and controls using the Affymetrix 6.0 platform implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD.