Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/56744
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
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jul-2017
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://cmuir.cmu.ac.th/jspui/handle/6653943832/56744
ISSN: 15461718
10614036
Appears in Collections:CMUL: Journal Articles

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