title: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
abstract: Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
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authors.affiliation: 1] Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA. [2] Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Wallace L M
authors.initials: WL
authors.lastname: Alward
authors.affiliation: Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University Heidelberg, Heidelberg, Germany.
authors.forename: Jost B
authors.identifier: 0000000329725227
authors.initials: JB
authors.lastname: Jonas
authors.affiliation: Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Xu
authors.affiliation: New York University School of Medicine, Manhattan Eye, Ear and Throat Hospital, New York, New York, USA.
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Liebmann
authors.affiliation: Division of Medical Sciences, Humphrey Oei Institute of Cancer Research, National Cancer Centre of Singapore, Singapore.
authors.forename: Balram
authors.initials: B
authors.lastname: Chowbay
authors.affiliation: Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
authors.forename: Elke
authors.initials: E
authors.lastname: Schaeffeler
authors.affiliation: 1] Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany. [2] Department of Clinical Pharmacology, University Hospital, Tübingen, Germany. [3] German Cancer Consortium (DKTK), German Cancer Research Center, Heidelberg, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Schwab
authors.affiliation: Fundación para el Estudio del Glaucoma, Buenos Aires, Argentina.
authors.forename: Fabian
authors.initials: F
authors.lastname: Lerner
authors.affiliation: Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors.forename: Ningli
authors.initials: N
authors.lastname: Wang
authors.affiliation: 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [3] Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Surgery, Section of Ophthalmology, University of Siena, Siena, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Frezzotti
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kinoshita
authors.affiliation: 1] Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA. [2] Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
authors.affiliation: Department of Ophthalmology, Faculty of Medical Science, University of Fukui, Fukui, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Inatani
authors.affiliation: Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Tashiro
authors.affiliation: Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
authors.forename: André
authors.identifier: 0000000263016363
authors.initials: A
authors.lastname: Reis
authors.affiliation: 1] King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. [2] Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Deepak P
authors.initials: DP
authors.lastname: Edward
authors.affiliation: 1] Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA. [2] Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Louis R
authors.initials: LR
authors.lastname: Pasquale
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kubota
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
authors.affiliation: Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
authors.forename: Francesca
authors.initials: F
authors.lastname: Pasutto
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece.
authors.forename: Fotis
authors.initials: F
authors.lastname: Topouzis
authors.affiliation: 1] Department of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia. [2] St. Petersburg Academic University, St. Petersburg, Russia.
authors.forename: Michael
authors.initials: M
authors.lastname: Dubina
authors.affiliation: Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
authors.affiliation: Howard Hughes Medical Institute, Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Simon W M
authors.initials: SW
authors.lastname: John
authors.affiliation: Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Ritch
authors.affiliation: 1] Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA. [2] Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.affiliation: 1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.
authors.forename: Chiea-Chuen
authors.initials: CC
authors.lastname: Khor
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D015220:Calcium Channels / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping; D017889:Exfoliation Syndrome / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics; D057809:HEK293 Cells; D006367:HeLa Cells; D006801:Humans; D007564:Japan / Q000453:epidemiology; D061986:MCF-7 Cells; D051379:Mice; D008810:Mice, Inbred C57BL; D020641:Polymorphism, Single Nucleotide; D014407:Tumor Cells, Cultured; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type