title: Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
abstract: We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10⁻¹⁰). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
authors.affiliation: deCODE genetics Inc, Reykjavik, Iceland. gudmar.thorleifsson@decode.is
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: G Bragi
authors.initials: GB
authors.lastname: Walters
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: Agnar
authors.initials: A
authors.lastname: Helgason
authors.forename: Andrew
authors.initials: A
authors.lastname: DeWan
authors.forename: Asgeir
authors.initials: A
authors.lastname: Sigurdsson
authors.forename: Adalbjorg
authors.initials: A
authors.lastname: Jonasdottir
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Kristinn P
authors.initials: KP
authors.lastname: Magnusson
authors.forename: Hreinn
authors.initials: H
authors.lastname: Stefansson
authors.forename: Dennis S C
authors.initials: DS
authors.lastname: Lam
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: Gudrun J
authors.initials: GJ
authors.lastname: Gudmundsdottir
authors.forename: Laura
authors.initials: L
authors.lastname: Southgate
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Maria Soffia
authors.initials: MS
authors.lastname: Gottfredsdottir
authors.forename: Micheala A
authors.initials: MA
authors.lastname: Aldred
authors.forename: Paul
authors.initials: P
authors.lastname: Mitchell
authors.forename: David
authors.initials: D
authors.lastname: St Clair
authors.forename: David A
authors.initials: DA
authors.lastname: Collier
authors.forename: Nelson
authors.initials: N
authors.lastname: Tang
authors.forename: Orn
authors.initials: O
authors.lastname: Sveinsson
authors.forename: Stuart
authors.initials: S
authors.lastname: Macgregor
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.forename: Angela J
authors.initials: AJ
authors.lastname: Cree
authors.forename: Jane
authors.initials: J
authors.lastname: Gibson
authors.forename: Alex
authors.initials: A
authors.lastname: Macleod
authors.forename: Aby
authors.initials: A
authors.lastname: Jacob
authors.forename: Sarah
authors.initials: S
authors.lastname: Ennis
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
authors.forename: Juliana C N
authors.initials: JC
authors.lastname: Chan
authors.forename: Wojciech S S
authors.initials: WS
authors.lastname: Karwatowski
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Hammond
authors.forename: Kristjan
authors.initials: K
authors.lastname: Thordarson
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Zhang
authors.forename: Claes
authors.initials: C
authors.lastname: Wadelius
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lotery
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
authors.forename: Josephine
authors.initials: J
authors.lastname: Hoh
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.forename: Fridbert
authors.initials: F
authors.lastname: Jonasson
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D051242:Caveolin 1 / Q000235:genetics*; D051243:Caveolin 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C495540:CAV1 protein, human; C495544:CAV2 protein, human; D051242:Caveolin 1; D051243:Caveolin 2