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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/41856
Title: Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Authors: Tin Aung
Mineo Ozaki
Mei Chin Lee
Ursula Schlötzer-Schrehardt
Gudmar Thorleifsson
Takanori Mizoguchi
Robert P. Igo
Aravind Haripriya
Susan E. Williams
Yury S. Astakhov
Andrew C. Orr
Kathryn P. Burdon
Satoko Nakano
Kazuhiko Mori
Khaled Abu-Amero
Michael Hauser
Zheng Li
Gopalakrishnan Prakadeeswari
Jessica N.Cooke Bailey
Alina Popa Cherecheanu
Jae H. Kang
Sarah Nelson
Ken Hayashi
Shin Ichi Manabe
Shigeyasu Kazama
Tomasz Zarnowski
Kenji Inoue
Murat Irkec
Miguel Coca-Prados
Kazuhisa Sugiyama
Irma Järvelä
Patricio Schlottmann
S. Fabian Lerner
Hasnaa Lamari
Yildirim Nilgün
Mukharram Bikbov
Ki Ho Park
Soon Cheol Cha
Kenji Yamashiro
Juan C. Zenteno
Jost B. Jonas
Rajesh S. Kumar
Shamira A. Perera
Anita S.Y. Chan
Nino Kobakhidze
Ronnie George
Lingam Vijaya
Tan Do
Deepak P. Edward
Lourdes De Juan Marcos
Mohammad Pakravan
Sasan Moghimi
Ryuichi Ideta
Daniella Bach-Holm
Per Kappelgaard
Barbara Wirostko
Samuel Thomas
Daniel Gaston
Karen Bedard
Wenda L. Greer
Zhenglin Yang
Xueyi Chen
Lulin Huang
Jinghong Sang
Hongyan Jia
Liyun Jia
Chunyan Qiao
Hui Zhang
Xuyang Liu
Bowen Zhao
Ya Xing Wang
Liang Xu
Stéphanie Leruez
Pascal Reynier
George Chichua
Sergo Tabagari
Singapore Eye Research Institute
Singapore National Eye Centre
Yong Loo Lin School of Medicine
Ozaki Eye Hospital
University of Miyazaki
Duke-NUS Medical School Singapore
Universitätsklinik Erlangen und Medizinische Fakultät
deCODE genetics
Mizoguchi Eye Clinic
Case Western Reserve University
Aravind Eye Hospital
University of Witwatersrand
Pavlov University
Dalhousie University
Flinders University
University of Tasmania
Oita University
Kyoto Prefectural University of Medicine
King Saud University Medical College
University of Florida
Duke University Eye Center
Duke University Medical Center
A-Star, Genome Institute of Singapore
Aravind Medical Research Foundation
Universitatea de Medicina si Farmacie Carol Davila din Bucuresti
University Emergency Hospital
Brigham and Women's Hospital
University of Washington, Seattle
Hayashi Eye Hospital
Shinjo Eye Clinic
Medical University of Lublin
Inoue Eye Hospital
Hacettepe Üniversitesi
Universidad de Oviedo
Fernández-Vega Ophthalmological Institute
Yale University School of Medicine
Kanazawa University School of Medicine
Helsingin Yliopisto
Organización Médica de Investigación
Fundación para el estudio del Glaucoma
Clinique Spécialisée en Ophtalmologie Mohammedia
Eskişehir Osmangazi Üniversitesi
Ufa Eye Research Institute
Seoul National University Hospital
Yeungnam University, College of Medicine
Kyoto University
Otsu Red Cross Hospital
Instituto de Oftalmología Fundación Conde de Valenciana
Universidad Nacional Autónoma de México
Universität Heidelberg
Beijing Tongren Hospital
Narayana Nethralaya Eye Hospital
Chichua Medical Center Mzera, LLC
Medical Research Foundation, Chennai
Vietnam National Institute of Ophthalmology
King Khaled Eye Specialist Hospital
University of Illinois Eye Center
Hospital Universitario de Salamanca
Institute for Biomedical Research of Salamanca (IBSAL)
SBUMS Ophthalmic Research Center
University of Tehran
Ideta Eye Hospital
Rigshospitalet
University of Utah Health
University of Electronic Science and Technology of China
Xinjiang Medical University
Sichuan Provincial People's Hospital
Chinese Academy of Sciences
Jinan University
CHU Angers
Tbilisi State Medical University
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Universität Graz
Universität Tübingen
Aristotle University of Thessaloniki
Narayana Nethralaya Foundation
Santa Lucia Eye Hospital from Buenos Aires
Vision Research Foundation India
Shahid Beheshti University of Medical Sciences
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jul-2017
Citation: Nature Genetics. Vol.49, No.7 (2017), 993-1004
Abstract: © 2017 Nature America, Inc., part of Springer Nature. All rights reserved. Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85021706287&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/41856
ISSN: 15461718
10614036
Appears in Collections:Scopus 2016-2017

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