|
|
| PMID |
|
|
| 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. |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| received |
2010/01/06 |
| accepted |
2010/08/18 |
| aheadofprint |
2010/09/12 |
| entrez |
2010/09/14 06:00 |
| pubmed |
2010/09/14 06:00 |
| medline |
2010/10/29 06:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Thorleifsson G |
|
Thorleifsson |
Gudmar |
G |
|
deCODE genetics Inc, Reykjavik, Iceland. gudmar.thorleifsson@decode.is |
| Walters GB |
|
Walters |
G Bragi |
GB |
|
|
| Hewitt AW |
|
Hewitt |
Alex W |
AW |
|
|
| Masson G |
|
Masson |
Gisli |
G |
|
|
| Helgason A |
|
Helgason |
Agnar |
A |
|
|
| DeWan A |
|
DeWan |
Andrew |
A |
|
|
| Sigurdsson A |
|
Sigurdsson |
Asgeir |
A |
|
|
| Jonasdottir A |
|
Jonasdottir |
Adalbjorg |
A |
|
|
| Gudjonsson SA |
|
Gudjonsson |
Sigurjon A |
SA |
|
|
| Magnusson KP |
|
Magnusson |
Kristinn P |
KP |
|
|
| Stefansson H |
|
Stefansson |
Hreinn |
H |
|
|
| Lam DS |
|
Lam |
Dennis S C |
DS |
|
|
| Tam PO |
|
Tam |
Pancy O S |
PO |
|
|
| Gudmundsdottir GJ |
|
Gudmundsdottir |
Gudrun J |
GJ |
|
|
| Southgate L |
|
Southgate |
Laura |
L |
|
|
| Burdon KP |
|
Burdon |
Kathryn P |
KP |
|
|
| Gottfredsdottir MS |
|
Gottfredsdottir |
Maria Soffia |
MS |
|
|
| Aldred MA |
|
Aldred |
Micheala A |
MA |
|
|
| Mitchell P |
|
Mitchell |
Paul |
P |
|
|
| St Clair D |
|
St Clair |
David |
D |
|
|
| Collier DA |
|
Collier |
David A |
DA |
|
|
| Tang N |
|
Tang |
Nelson |
N |
|
|
| Sveinsson O |
|
Sveinsson |
Orn |
O |
|
|
| Macgregor S |
|
Macgregor |
Stuart |
S |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Cree AJ |
|
Cree |
Angela J |
AJ |
|
|
| Gibson J |
|
Gibson |
Jane |
J |
|
|
| Macleod A |
|
Macleod |
Alex |
A |
|
|
| Jacob A |
|
Jacob |
Aby |
A |
|
|
| Ennis S |
|
Ennis |
Sarah |
S |
|
|
| Young TL |
|
Young |
Terri L |
TL |
|
|
| Chan JC |
|
Chan |
Juliana C N |
JC |
|
|
| Karwatowski WS |
|
Karwatowski |
Wojciech S S |
WS |
|
|
| Hammond CJ |
|
Hammond |
Christopher J |
CJ |
|
|
| Thordarson K |
|
Thordarson |
Kristjan |
K |
|
|
| Zhang M |
|
Zhang |
Mingzhi |
M |
|
|
| Wadelius C |
|
Wadelius |
Claes |
C |
|
|
| Lotery AJ |
|
Lotery |
Andrew J |
AJ |
|
|
| Trembath RC |
|
Trembath |
Richard C |
RC |
|
|
| Pang CP |
|
Pang |
Chi Pui |
CP |
|
|
| Hoh J |
|
Hoh |
Josephine |
J |
|
|
| Craig JE |
|
Craig |
Jamie E |
JE |
|
|
| Kong A |
|
Kong |
Augustine |
A |
|
|
| Mackey DA |
|
Mackey |
David A |
DA |
|
|
| Jonasson F |
|
Jonasson |
Fridbert |
F |
|
|
| Thorsteinsdottir U |
|
Thorsteinsdottir |
Unnur |
U |
|
|
| Stefansson K |
|
Stefansson |
Kari |
K |
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 42 |
| ISSUE: 10 |
| TITLE: Nature genetics |
| ISOABBREVIATION: Nat. Genet. |
| YEAR: 2010 |
| MONTH: Oct |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1546-1718 |
| ISSNTYPE: Electronic |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: Nat Genet |
| COUNTRY: United States |
| ISSNLINKING: 1061-4036 |
| NLMUNIQUEID: 9216904 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| 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. |
|
| COMMENTS AND CORRECTIONS |
|
| REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
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|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| 1R01EY018246 |
NEI NIH HHS |
United States |
| R01 EY014685 |
NEI NIH HHS |
United States |
| R01 EY018246 |
NEI NIH HHS |
United States |
| R01 EY018246-03 |
NEI NIH HHS |
United States |
|
Wellcome Trust |
United Kingdom |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Adult |
|
| Aged |
|
| Aged, 80 and over |
|
| Case-Control Studies |
|
| Caveolin 1 |
genetics |
| Caveolin 2 |
genetics |
| Chromosomes, Human, Pair 7 |
genetics |
| Female |
genetics |
| Genetic Predisposition to Disease |
genetics |
| Genome, Human |
genetics |
| Genome-Wide Association Study |
genetics |
| Genotype |
genetics |
| Glaucoma, Open-Angle |
pathology |
| Humans |
pathology |
| Male |
pathology |
| Middle Aged |
pathology |
| Polymorphism, Single Nucleotide |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
CAV1 protein, human |
| 0 |
CAV2 protein, human |
| 0 |
Caveolin 1 |
| 0 |
Caveolin 2 |
|
| OTHER ID's |
|
| OTHERID |
SOURCE |
| NIHMS290105 |
NLM |
| PMC3222888 |
NLM |
|
|
