Evidence map›Paper›PMID 23493294›Full record

ArticleInvestigative ophthalmology & visual science2013

A genome-wide association study of central corneal thickness in Latinos.

Xiaoyi Gao, W James Gauderman, Yutao Liu, Paul Marjoram, Mina Torres, Talin Haritunians, Jane Z Kuo, Yii-Der I Chen, R Rand Allingham, Michael A Hauser and 3 more

Open access · hybridAbstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
5.6field-weighted citation impact, top 4% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.

  1. Pooled it
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  19. Genomic strategies to understand causes of keratoconus.Molecular genetics and genomics : MGG · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Xiaoyi GaoDepartment of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.rgao@uic.edu
W James Gauderman
Yutao Liu
Paul Marjoram
Mina Torres
Talin Haritunians
Jane Z Kuo
Yii-Der I Chen
R Rand Allingham
Michael A Hauser
Kent D Taylor
Jerome I Rotter
Rohit Varma
Cedars-Sinai Medical Center · USUniversity of Southern California · USDuke University · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4M
LOS ANGELES LATINO EYE STUDYU10EY011753 · NEI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI VARMA, ROHIT · 1998 to 2014
$35.6M
UCLA CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033176 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$15.5M
Mexican American Glaucoma Genetic Study (MAGGS)R01EY022651 · NEI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI GAO, XIAOYI RAYMOND · 2012 to 2016
$4.2M
Gene Discovery in Familial KeratoconusR01EY023242 · NEI · DUKE UNIVERSITY · PI LIU, YUTAO · 2013 to 2023
$3.4M
Detecting GxE Interactions in Genome-wide Association StudiesR21HL115606 · NHLBI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GAUDERMAN, WILLIAM JAMES · 2012 to 2014
$481k
NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1TR000124NCRR NIH HHS UL1 RR033176NCRR NIH HHS UL1RR033176NEI NIH HHS R01 EY022651NEI NIH HHS R01EY022651NEI NIH HHS R01 EY023242NEI NIH HHS U10 EY011753NEI NIH HHS U10EY011753NHLBI NIH HHS R21 HL115606NHLBI NIH HHS R21HL115606NIDDK NIH HHS DK063491NIDDK NIH HHS P30 DK063491
6 · The paper itself

Abstract

purposeCentral corneal thickness (CCT) is a clinically important risk factor for primary open-angle glaucoma and keratoconus. Genetic factors controlling CCT in Latinos, the most populous minority population in the United States, are unclear. Here we describe the first genome-wide association study (GWAS) report of CCT in Latinos.

methodsWe performed a GWAS for CCT on 1768 Latinos recruited in the Los Angeles Latino Eye Study (LALES) using Illumina's HumanOmniExpress BeadChip (∼730K markers). To discover additional associated single-nucleotide polymorphisms (SNPs), we imputed SNPs based on the 1000 Genomes Project reference panels. All subjects were 40 years of age and older. We used linear regression with adjustment for age, sex, and principal components of genetic ancestry.

resultswe replicated the involvement of several previously reported loci, SUCH AS RXRA-COL5A1, FOXO1, and ZNF469, for CCT in Latinos (P 0.002). moreover, we discovered novel SNPS, RS3118515, RS943423, RS3118594, AND RS3132307, THAT REACHED GWAS SIGNIFICANCE (P 5 10(8)) in the uncharacterized LOC100506532 (GENE TYPE: miscRNA) for CCT in Latinos. By conditional analysis, we demonstrate that rs3118515 in this gene is responsible for the GWAS signal in the chromosome 9 RXRA-COL5A1 region in Latinos. Moreover, multiple sources of ENCODE evidence suggest that rs3118515 is in a regulatory region. Reverse-transcription PCR products indicated that transcripts of LOC100506532 surrounding rs3118515 were expressed in human corneas.

conclusionsWe discovered novel SNPs for CCT in Latinos and provided the first reported evidence of the corneal expression of LOC100506532. These results help to further increase our understanding of the genetic architecture of CCT.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideChromosomes, Human, Pair 9Collagen Type VCorneaFemaleForkhead Box Protein O1Forkhead Transcription FactorsGenetic LociGenotypeHispanic or LatinoHumansLos AngelesMaleMiddle AgedRetinoid X Receptor alphaCOL5A1 protein, humanCollagen Type VForkhead Box Protein O1Forkhead Transcription FactorsFOXO1 protein, humanRetinoid X Receptor alphaTranscription FactorsZNF469 protein, human

Identifiers

PMID23493294
PMCPMC3621577
OpenAlexW1986387103

What OpenQuestion holds

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Registered trials

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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.