Evidence map›Paper›PMID 24572674›Full record

ArticleOphthalmology2014

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Stephanie J Loomis, Jae H Kang, Robert N Weinreb, Brian L Yaspan, Jessica N Cooke Bailey, Douglas Gaasterland, Terry Gaasterland, Richard K Lee, Paul R Lichter, Donald L Budenz and 24 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 71 papers.

0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed
8.6field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

71 citing papers in PubMed, 111 citations in OpenAlex.

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11 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

34 authors at 19 institutions in 1 country.

Stephanie J LoomisDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Jae H KangDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Robert N WeinrebDepartment of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, La Jolla, California.
Brian L YaspanGenentech, Inc., San Francisco, California.
Jessica N Cooke BaileyCenter for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee.
Douglas GaasterlandEye Doctors of Washington, Chevy Chase, Maryland.
Terry GaasterlandScripps Genome Center, University of California at San Diego, La Jolla, California.
Richard K LeeBascom Palmer Eye Institute and Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
Paul R LichterDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
Donald L BudenzDepartment of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina.
Yutao LiuDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina; Department of Medicine, Duke University Medical Center, Durham, North Carolina.
Tony RealiniDepartment of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia.
David S FriedmanWilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland.
Catherine A McCartyEssentia Institute of Rural Health, Duluth, Minnesota.
Sayoko E MoroiDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
Lana OlsonCenter for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee.
Joel S SchumanDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania.
Kuldev SinghDepartment of Ophthalmology, Stanford University, Palo Alto, California.
Douglas VollrathDepartment of Genetics, Stanford University, Palo Alto, California.
Gadi WollsteinDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania.
Donald J ZackWilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland.
Murray BrilliantCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin.
Arthur J SitDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
William G ChristenDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
John FingertDepartments of Ophthalmology and Anatomy/Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Peter KraftDepartments of Epidemiology and Biostatistics, Harvard School of Public Health, Harvard University, Boston, Massachusetts.
Kang ZhangDepartment of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, La Jolla, California.
R Rand AllinghamDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina.
Margaret A Pericak-VanceBascom Palmer Eye Institute and Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
Julia E RichardsDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
Michael A HauserDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina; Department of Medicine, Duke University Medical Center, Durham, North Carolina.
Jonathan L HainesCenter for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee.
Louis R PasqualeDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts. Electronic address: janey_wiggs@meei.harvard.edu.
Harvard University · USCenter for Human Genetics · USDuke Medical Center · USUniversity of Michigan–Ann Arbor · USMassachusetts Eye and Ear Infirmary · USUniversity of California, San Diego · USUniversity of Miami · USUniversity of Pittsburgh · USEssentia Health · USJohns Hopkins Hospital · USJohns Hopkins University · USMayo Clinic · USPalo Alto University · USScripps Institution of Oceanography · USStanford University · USUniversity of Iowa · USUniversity of North Carolina at Chapel Hill · USVanderbilt University · USWest Virginia University · US

Funding

Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Structural dynamics of developing auditory circuitsP20RR015574 · NCRR · WEST VIRGINIA UNIVERSITY · PI LEWIS, JAMES W · 2000 to 2009
$18.1M
Novel Glaucoma Diagnostics for Structure and Function - Renewal - 1R01EY013178 · NEI · WILLS EYE HEALTH SYSTEM · PI Joel S Schuman · 2000 to 2026
$17.5M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
SNP discoveryP01HL073042 · NHLBI · DUKE UNIVERSITY · PI NEVINS, JOSEPH R · 2002 to 2006
$13.5M
Unifying Genetics Epidemiology of Macular DegenerationR01EY012118 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI AGARWAL, ANITA, HAINES, JONATHAN L · 2006 to 2015
$12.2M
Cancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5M
BIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3M
Diagnostic Innovations in Glaucoma:Structural AssessmentR01EY011008 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZANGWILL, LINDA M · 1995 to 2015
$8.7M
Gene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3M
NCATS NIH HHS UL1 TR000427NCI NIH HHS CA49449NCI NIH HHS CA87969NCI NIH HHS P01 CA087969NCI NIH HHS R01 CA049449NCI NIH HHS U01 CA049449NCI NIH HHS UM1 CA167552NCRR NIH HHS P20 RR015574NCRR NIH HHS RR015574NEI NIH HHS 3R01EY015872-05S1NEI NIH HHS EY006827NEI NIH HHS EY008208NEI NIH HHS EY009149NEI NIH HHS EY009847NEI NIH HHS EY010886NEI NIH HHS EY011008NEI NIH HHS EY011671NEI NIH HHS EY012118NEI NIH HHS EY013178NEI NIH HHS EY015473NEI NIH HHS EY015543NEI NIH HHS EY015682NEI NIH HHS EY015872NEI NIH HHS EY022766NEI NIH HHS EY09580NEI NIH HHS EY13315NEI NIH HHS EY144428NEI NIH HHS EY144448NEI NIH HHS EY18660NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY008208NEI NIH HHS R01 EY009580NEI NIH HHS R01 EY009847NEI NIH HHS R01 EY010886NEI NIH HHS R01 EY011008NEI NIH HHS R01 EY011405NEI NIH HHS R01 EY011671NEI NIH HHS R01 EY012118NEI NIH HHS R01 EY013178NEI NIH HHS R01 EY013315NEI NIH HHS R01 EY014428NEI NIH HHS R01 EY014448NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY015543NEI NIH HHS R01 EY015872NEI NIH HHS R01 EY018660NEI NIH HHS R01 EY019126NEI NIH HHS R01 EY022305NEI NIH HHS R01 EY022306NEI NIH HHS R01 EY023512NEI NIH HHS R03 EY015682NEI NIH HHS R21 EY022766NEI NIH HHS R56 EY011671NEI NIH HHS U10 EY009149NEI NIH HHS U10 EY010379NEI NIH HHS U10 EY012118NHGRI NIH HHS HG004608NHGRI NIH HHS HG004728NHGRI NIH HHS HG005259-01NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01-HG004424NHGRI NIH HHS U01 HG004446NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG004728NHLBI NIH HHS HL073389NHLBI NIH HHS HL73042NHLBI NIH HHS P01 HL073042NHLBI NIH HHS R01 HL073389
6 · The paper itself

Abstract

purposeThe CAV1/CAV2 (caveolin 1 and caveolin 2) genomic region previously was associated with primary open-angle glaucoma (POAG), although replication among independent studies has been variable. The aim of this study was to assess the association between CAV1/CAV2 single nucleotide polymorphisms (SNPs) and POAG in a large case-control dataset and to explore associations by gender and pattern of visual field (VF) loss further.

designCase-control study.

participantsWe analyzed 2 large POAG data sets: the Glaucoma Genes and Environment (GLAUGEN) study (976 cases, 1140 controls) and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium (2132 cases, 2290 controls).

methodsWe studied the association between 70 SNPs located within the CAV1/CAV2 genomic region in the GLAUGEN and NEIGHBOR studies, both genotyped on the Illumina Human 660WQuadv1C BeadChip array and imputed with the Markov Chain Haplotyping algorithm using the HapMap 3 reference panel. We used logistic regression models of POAG in the overall population and separated by gender, as well as by POAG subtypes defined by type of VF defect (peripheral or paracentral). Results from GLAUGEN and NEIGHBOR were meta-analyzed, and a Bonferroni-corrected significance level of 7.7 × 10(-4) was used to account for multiple comparisons.

main outcome measuresOverall POAG, overall POAG by gender, and POAG subtypes defined by pattern of early VF loss.

resultsWe found significant associations between 10 CAV1/CAV2 SNPs and POAG (top SNP, rs4236601; pooled P = 2.61 × 10(-7)). Of these, 9 were significant only in women (top SNP, rs4236601; pooled P = 1.59 × 10(-5)). Five of the 10 CAV1/CAV2 SNPs were associated with POAG with early paracentral VF (top SNP, rs17588172; pooled P = 1.07 × 10(-4)), and none of the 10 were associated with POAG with peripheral VF loss only or POAG among men.

conclusionsCAV1/CAV2 SNPs were associated significantly with POAG overall, particularly among women. Furthermore, we found an association between CAV1/CAV2 SNPs and POAG with paracentral VF defects. These data support a role for caveolin 1, caveolin 2, or both in POAG and suggest that the caveolins particularly may affect POAG pathogenesis in women and in patients with early paracentral VF defects.

Indexed as

Genomic Structural VariationPolymorphism, Single NucleotideVisual FieldsAgedCase-Control StudiesCaveolin 1Caveolin 2FemaleGenotypeGlaucoma, Open-AngleHumansIntraocular PressureMaleMiddle AgedSex FactorsVision DisordersCAV1 protein, humanCAV2 protein, humanCaveolin 1Caveolin 2

Identifiers

PMID24572674
PMCPMC3937766
OpenAlexW2168136778

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.