Literature DB >> 28250457

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

Thomas S Scerri1,2, Anna Quaglieri1,2, Carolyn Cai3, Jana Zernant3, Nori Matsunami4, Lisa Baird4, Lea Scheppke5, Roberto Bonelli1,2, Lawrence A Yannuzzi3,6, Martin Friedlander5,7, Catherine A Egan8, Marcus Fruttiger9, Mark Leppert4, Rando Allikmets3,10, Melanie Bahlo1,2,11.   

Abstract

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10-8) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10-17; rs715 at 2q34, P = 9.97 × 10-14; rs477992 at 1p12, P = 2.60 × 10-12) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10-6) and serine (P = 2.48 × 10-4) between MacTel cases and controls.

Entities:  

Mesh：

Year:  2017        PMID： 28250457     DOI： 10.1038/ng.3799

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  102 in total

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Authors:  Markus Zweier; Anne Gregor; Christiane Zweier; Hartmut Engels; Heinrich Sticht; Eva Wohlleber; Emilia K Bijlsma; Susan E Holder; Martin Zenker; Eva Rossier; Ute Grasshoff; Diana S Johnson; Lisa Robertson; Helen V Firth; Arif B Ekici; André Reis; Anita Rauch
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

2.  Neurovascular crosstalk between interneurons and capillaries is required for vision.

Authors:  Yoshihiko Usui; Peter D Westenskow; Toshihide Kurihara; Edith Aguilar; Susumu Sakimoto; Liliana P Paris; Carli Wittgrove; Daniel Feitelberg; Mollie S H Friedlander; Stacey K Moreno; Michael I Dorrell; Martin Friedlander
Journal:  J Clin Invest       Date:  2015-04-27       Impact factor: 14.808

3.  Retinal astrocytes are immigrants from the optic nerve.

Authors:  T Watanabe; M C Raff
Journal:  Nature       Date:  1988-04-28       Impact factor: 49.962

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Journal:  Nat Genet       Date:  2010-06-20       Impact factor: 38.330

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Authors:  Traci E Clemons; Mark C Gillies; Emily Y Chew; Alan C Bird; Tunde Peto; Jie Jin Wang; Paul Mitchell; Wishal D Ramdas; Johannes R Vingerling
Journal:  Ophthalmic Epidemiol       Date:  2013-04       Impact factor: 1.648

6.  A basic introduction to fixed-effect and random-effects models for meta-analysis.

Authors:  Michael Borenstein; Larry V Hedges; Julian P T Higgins; Hannah R Rothstein
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7.  Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.

Authors:  Stephen R Williams; Qiong Yang; Fang Chen; Xuan Liu; Keith L Keene; Paul Jacques; Wei-Min Chen; Galit Weinstein; Fang-Chi Hsu; Alexa Beiser; Liewei Wang; Ebony Bookman; Kimberly F Doheny; Philip A Wolf; Michelle Zilka; Jacob Selhub; Sarah Nelson; Stephanie M Gogarten; Bradford B Worrall; Sudha Seshadri; Michèle M Sale
Journal:  PLoS Genet       Date:  2014-03-20       Impact factor: 5.917

8.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

9.  Genetic loci for retinal arteriolar microcirculation.

Authors:  Xueling Sim; Richard A Jensen; M Kamran Ikram; Mary Frances Cotch; Xiaohui Li; Stuart MacGregor; Jing Xie; Albert Vernon Smith; Eric Boerwinkle; Paul Mitchell; Ronald Klein; Barbara E K Klein; Nicole L Glazer; Thomas Lumley; Barbara McKnight; Bruce M Psaty; Paulus T V M de Jong; Albert Hofman; Fernando Rivadeneira; Andre G Uitterlinden; Cornelia M van Duijn; Thor Aspelund; Gudny Eiriksdottir; Tamara B Harris; Fridbert Jonasson; Lenore J Launer; John Attia; Paul N Baird; Stephen Harrap; Elizabeth G Holliday; Michael Inouye; Elena Rochtchina; Rodney J Scott; Ananth Viswanathan; Guo Li; Nicholas L Smith; Kerri L Wiggins; Jane Z Kuo; Kent D Taylor; Alex W Hewitt; Nicholas G Martin; Grant W Montgomery; Cong Sun; Terri L Young; David A Mackey; Natalie R van Zuydam; Alex S F Doney; Colin N A Palmer; Andrew D Morris; Jerome I Rotter; E Shyong Tai; Vilmundur Gudnason; Johannes R Vingerling; David S Siscovick; Jie Jin Wang; Tien Y Wong
Journal:  PLoS One       Date:  2013-06-12       Impact factor: 3.240

10.  Discovery and refinement of loci associated with lipid levels.

Authors:  Cristen J Willer; Ellen M Schmidt; Sebanti Sengupta; Michael Boehnke; Panos Deloukas; Sekar Kathiresan; Karen L Mohlke; Erik Ingelsson; Gonçalo R Abecasis; Gina M Peloso; Stefan Gustafsson; Stavroula Kanoni; Andrea Ganna; Jin Chen; Martin L Buchkovich; Samia Mora; Jacques S Beckmann; Jennifer L Bragg-Gresham; Hsing-Yi Chang; Ayşe Demirkan; Heleen M Den Hertog; Ron Do; Louise A Donnelly; Georg B Ehret; Tõnu Esko; Mary F Feitosa; Teresa Ferreira; Krista Fischer; Pierre Fontanillas; Ross M Fraser; Daniel F Freitag; Deepti Gurdasani; Kauko Heikkilä; Elina Hyppönen; Aaron Isaacs; Anne U Jackson; Åsa Johansson; Toby Johnson; Marika Kaakinen; Johannes Kettunen; Marcus E Kleber; Xiaohui Li; Jian'an Luan; Leo-Pekka Lyytikäinen; Patrik K E Magnusson; Massimo Mangino; Evelin Mihailov; May E Montasser; Martina Müller-Nurasyid; Ilja M Nolte; Jeffrey R O'Connell; Cameron D Palmer; Markus Perola; Ann-Kristin Petersen; Serena Sanna; Richa Saxena; Susan K Service; Sonia Shah; Dmitry Shungin; Carlo Sidore; Ci Song; Rona J Strawbridge; Ida Surakka; Toshiko Tanaka; Tanya M Teslovich; Gudmar Thorleifsson; Evita G Van den Herik; Benjamin F Voight; Kelly A Volcik; Lindsay L Waite; Andrew Wong; Ying Wu; Weihua Zhang; Devin Absher; Gershim Asiki; Inês Barroso; Latonya F Been; Jennifer L Bolton; Lori L Bonnycastle; Paolo Brambilla; Mary S Burnett; Giancarlo Cesana; Maria Dimitriou; Alex S F Doney; Angela Döring; Paul Elliott; Stephen E Epstein; Gudmundur Ingi Eyjolfsson; Bruna Gigante; Mark O Goodarzi; Harald Grallert; Martha L Gravito; Christopher J Groves; Göran Hallmans; Anna-Liisa Hartikainen; Caroline Hayward; Dena Hernandez; Andrew A Hicks; Hilma Holm; Yi-Jen Hung; Thomas Illig; Michelle R Jones; Pontiano Kaleebu; John J P Kastelein; Kay-Tee Khaw; Eric Kim; Norman Klopp; Pirjo Komulainen; Meena Kumari; Claudia Langenberg; Terho Lehtimäki; Shih-Yi Lin; Jaana Lindström; Ruth J F Loos; François Mach; Wendy L McArdle; Christa Meisinger; Braxton D Mitchell; Gabrielle Müller; Ramaiah Nagaraja; Narisu Narisu; Tuomo V M Nieminen; Rebecca N Nsubuga; Isleifur Olafsson; Ken K Ong; Aarno Palotie; Theodore Papamarkou; Cristina Pomilla; Anneli Pouta; Daniel J Rader; Muredach P Reilly; Paul M Ridker; Fernando Rivadeneira; Igor Rudan; Aimo Ruokonen; Nilesh Samani; Hubert Scharnagl; Janet Seeley; Kaisa Silander; Alena Stančáková; Kathleen Stirrups; Amy J Swift; Laurence Tiret; Andre G Uitterlinden; L Joost van Pelt; Sailaja Vedantam; Nicholas Wainwright; Cisca Wijmenga; Sarah H Wild; Gonneke Willemsen; Tom Wilsgaard; James F Wilson; Elizabeth H Young; Jing Hua Zhao; Linda S Adair; Dominique Arveiler; Themistocles L Assimes; Stefania Bandinelli; Franklyn Bennett; Murielle Bochud; Bernhard O Boehm; Dorret I Boomsma; Ingrid B Borecki; Stefan R Bornstein; Pascal Bovet; Michel Burnier; Harry Campbell; Aravinda Chakravarti; John C Chambers; Yii-Der Ida Chen; Francis S Collins; Richard S Cooper; John Danesh; George Dedoussis; Ulf de Faire; Alan B Feranil; Jean Ferrières; Luigi Ferrucci; Nelson B Freimer; Christian Gieger; Leif C Groop; Vilmundur Gudnason; Ulf Gyllensten; Anders Hamsten; Tamara B Harris; Aroon Hingorani; Joel N Hirschhorn; Albert Hofman; G Kees Hovingh; Chao Agnes Hsiung; Steve E Humphries; Steven C Hunt; Kristian Hveem; Carlos Iribarren; Marjo-Riitta Järvelin; Antti Jula; Mika Kähönen; Jaakko Kaprio; Antero Kesäniemi; Mika Kivimaki; Jaspal S Kooner; Peter J Koudstaal; Ronald M Krauss; Diana Kuh; Johanna Kuusisto; Kirsten O Kyvik; Markku Laakso; Timo A Lakka; Lars Lind; Cecilia M Lindgren; Nicholas G Martin; Winfried März; Mark I McCarthy; Colin A McKenzie; Pierre Meneton; Andres Metspalu; Leena Moilanen; Andrew D Morris; Patricia B Munroe; Inger Njølstad; Nancy L Pedersen; Chris Power; Peter P Pramstaller; Jackie F Price; Bruce M Psaty; Thomas Quertermous; Rainer Rauramaa; Danish Saleheen; Veikko Salomaa; Dharambir K Sanghera; Jouko Saramies; Peter E H Schwarz; Wayne H-H Sheu; Alan R Shuldiner; Agneta Siegbahn; Tim D Spector; Kari Stefansson; David P Strachan; Bamidele O Tayo; Elena Tremoli; Jaakko Tuomilehto; Matti Uusitupa; Cornelia M van Duijn; Peter Vollenweider; Lars Wallentin; Nicholas J Wareham; John B Whitfield; Bruce H R Wolffenbuttel; Jose M Ordovas; Eric Boerwinkle; Colin N A Palmer; Unnur Thorsteinsdottir; Daniel I Chasman; Jerome I Rotter; Paul W Franks; Samuli Ripatti; L Adrienne Cupples; Manjinder S Sandhu; Stephen S Rich
Journal:  Nat Genet       Date:  2013-10-06       Impact factor: 38.330
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  37 in total

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2.  Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort.

Authors:  X Raymond Gao; Hua Huang; Heejin Kim
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3.  Progression characteristics of ellipsoid zone loss in macular telangiectasia type 2.

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4.  Genetic Penetrance of Macular Telangiectasia Type 2.

Authors:  Cecinio C Ronquillo; Kimberley Wegner; Charles M Calvo; Paul S Bernstein
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5.  Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.

Authors:  Timothy J Cherry; Marty G Yang; David A Harmin; Peter Tao; Andrew E Timms; Miriam Bauwens; Rando Allikmets; Evan M Jones; Rui Chen; Elfride De Baere; Michael E Greenberg
Journal:  Proc Natl Acad Sci U S A       Date:  2020-04-07       Impact factor: 11.205

6.  Primate model of chronic retinal neovascularization and vascular leakage.

Authors:  Chintan Patel; Robin Goody; Wenzheng Hu; Anish Kurian; Donnicia James; Richard Torres; Lori-Ann Christie; Thomas Hohman; Matthew Lawrence
Journal:  Exp Eye Res       Date:  2020-04-07       Impact factor: 3.467

7.  Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution.

Authors:  Jacob S Heng; Amir Rattner; Genevieve L Stein-O'Brien; Briana L Winer; Bryan W Jones; Hilary J Vernon; Loyal A Goff; Jeremy Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-15       Impact factor: 11.205

8.  Disruption of De Novo Serine Synthesis in Müller Cells Induced Mitochondrial Dysfunction and Aggravated Oxidative Damage.

Authors:  Ting Zhang; Mark C Gillies; Michele C Madigan; Weiyong Shen; Jianhai Du; Ulrike Grünert; Fanfan Zhou; Michelle Yam; Ling Zhu
Journal:  Mol Neurobiol       Date:  2018-01-30       Impact factor: 5.590

9.  Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

Authors:  Marin L Gantner; Kevin Eade; Martina Wallace; Michal K Handzlik; Regis Fallon; Jennifer Trombley; Roberto Bonelli; Sarah Giles; Sarah Harkins-Perry; Tjebo F C Heeren; Lydia Sauer; Yoichiro Ideguchi; Michelle Baldini; Lea Scheppke; Michael I Dorrell; Maki Kitano; Barbara J Hart; Carolyn Cai; Takayuki Nagasaki; Mehmet G Badur; Mali Okada; Sasha M Woods; Catherine Egan; Mark Gillies; Robyn Guymer; Florian Eichler; Melanie Bahlo; Marcus Fruttiger; Rando Allikmets; Paul S Bernstein; Christian M Metallo; Martin Friedlander
Journal:  N Engl J Med       Date:  2019-09-11       Impact factor: 91.245

10.  Global Connections to Study Idiopathic Macular Telangiectasia Type 2.

Authors:  Emily Y Chew; Martin Friedlander
Journal:  Retina       Date:  2018-01       Impact factor: 4.256
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