Evidence map›Paper›PMID 30157304›Full record

ArticleHuman mutation2018

Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.

Candelaria Vergara, Samantha M Bomotti, Cristian Valencia, Barbara E K Klein, Kristine E Lee, Ronald Klein, Alison P Klein, Priya Duggal

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
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

8 authors.

Candelaria VergaraDivision of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-3297-8057
Samantha M BomottiDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.ORCID 0000-0003-4025-9124
Cristian ValenciaDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Barbara E K KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Kristine E LeeDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Ronald KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Alison P KleinDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Priya DuggalDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.ORCID 0000-0001-5809-2081

Funding

Identification of quantitative ocular trait genes in the Beaver Dam EyeR01EY021531 · NEI · JOHNS HOPKINS UNIVERSITY · PI DUGGAL, PRIYA, KLEIN, ALISON P · 2011 to 2013
$1.2M
Eye and Vision Genomics Training ProgramT32EY022303 · NEI · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2013 to 2017
$799k
NEI NIH HHS R01 EY021531NEI NIH HHS T32 EY022303
6 · The paper itself

Abstract

Refractive errors, myopia, and hyperopia are common visual disorders greatly affecting older individuals. Refraction is determined by genetic factors but only a small percentage of its variation has been explained. We performed a genetic association analysis with three ocular phenotypes: spherical equivalent (a continous measure of refraction), axial length, and corneal curvature in 1,871 European-Americans from the Beaver Dam Eye Study. Individuals were genotyped on the Illumina exome array and imputed to the Haplotype Reference Consortium reference panel. After increasing the number of analyzed variants in targeted protein-coding regions 10-fold via imputation, we confirmed associations for two previously known loci with corneal curvature (chr4q12, rs2114039; g.55092626T > C, β = -0.03 (95% confidence interval [CI]): -0.06, -0.01, P value = 0.01) and spherical equivalent (chr15q14, rs634990; g.35006073T > C, β = -0.27, 95% CI: -0.45, -0.09, P value = 3.79 × 10

Indexed as

Polymorphism, Single NucleotideAgedAged, 80 and overChromosome MappingChromosomes, Human, Pair 15Chromosomes, Human, Pair 4Exome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedPhenotypeRefractive ErrorsUnited Statesaxial lengthcorneal curvatureexome arrayHaplotype Reference Consortiumimputationrefractionspherical equivalent

Identifiers

PMID30157304
PMCPMC6497529

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.