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PMID: 20835238 Published · ppublish English Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Nature genetics ·Vol. 42 ·No. 10 ·2010-10-00 ·Pages 906-9

Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K

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.

MeSH Terms
Adult Aged Aged, 80 and over Case-Control Studies Caveolin 1/genetics Caveolin 2/genetics Chromosomes, Human, Pair 7/genetics Female Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Genotype Glaucoma, Open-Angle/genetics,pathology Humans Male Middle Aged Polymorphism, Single Nucleotide/genetics
Chemicals
CAV1 protein, human CAV2 protein, human Caveolin 1 Caveolin 2
Authors & Affiliations
47 authors, click to expand affiliations / ORCID
Thorleifsson Gudmar
deCODE genetics Inc, Reykjavik, Iceland. [email protected]
Walters G Bragi
Hewitt Alex W
Masson Gisli
Helgason Agnar
DeWan Andrew
Sigurdsson Asgeir
Jonasdottir Adalbjorg
Gudjonsson Sigurjon A
Magnusson Kristinn P
Stefansson Hreinn
Lam Dennis S C
Tam Pancy O S
Gudmundsdottir Gudrun J
Southgate Laura
Burdon Kathryn P
Gottfredsdottir Maria Soffia
Aldred Micheala A
Mitchell Paul
St Clair David
Collier David A
Tang Nelson
Sveinsson Orn
Macgregor Stuart
Martin Nicholas G
Cree Angela J
Gibson Jane
Macleod Alex
Jacob Aby
Ennis Sarah
Young Terri L
Chan Juliana C N
Karwatowski Wojciech S S
Hammond Christopher J
Thordarson Kristjan
Zhang Mingzhi
Wadelius Claes
Lotery Andrew J
Trembath Richard C
Pang Chi Pui
Hoh Josephine
Craig Jamie E
Kong Augustine
Mackey David A
Jonasson Fridbert
Thorsteinsdottir Unnur
Stefansson Kari
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.661
Email
[email protected]
Published
2010-10-00
Epub
2010-00-12
Pages
906-9
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC3222888
Subset
IM
Grants
NEI NIH HHS · R01 EY018246 · United States
NEI NIH HHS · 1R01EY018246 · United States
NEI NIH HHS · R01 EY014685 · United States
Wellcome Trust · United Kingdom
NEI NIH HHS · R01 EY018246-03 · United States
External Links
PubMed source DOI: 10.1038/ng.661 PMC Full Text View journal details
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