Evidence map›Paper›PMID 22039249›Full record

ArticleInvestigative ophthalmology & visual science2011

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration.

Gwenole Quellec, Stephen R Russell, Johanna M Seddon, Robyn Reynolds, Todd Scheetz, Vinit B Mahajan, Edwin M Stone, Michael D Abràmoff

Open access · greenAbstract readTwin Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Investigative ophthalmology & visual science, 2011. 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
1.9field-weighted citation impact, top 14% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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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

8 authors at 4 institutions in 2 countries.

Gwenole QuellecInstitute for Vision Research, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Stephen R Russell
Johanna M Seddon
Robyn Reynolds
Todd Scheetz
Vinit B Mahajan
Edwin M Stone
Michael D Abràmoff
Centre for Biomedical Engineering and Physics · SETufts Medical Center · USUniversity of Iowa Hospitals and Clinics · USHoward Hughes Medical Institute · US

Funding

ETIOLOGIC STUDIES OF AGE-RELATED MACULAR DEGENERATIONR01EY011309 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2003 to 2017
$9.3M
Molecular Genetics of Age Related Macular DegenerationR01EY016822 · NEI · UNIVERSITY OF IOWA · PI STONE, EDWIN M · 2005 to 2013
$4.0M
Low-cost, portable, computer assisted imaging for diabe*R01EY017066 · NEI · UNIVERSITY OF IOWA · PI ABRAMOFF, MICHAEL DAVID · 2005 to 2008
$1.3M
NEI NIH HHS R01 EY011309NEI NIH HHS R01 EY016822NEI NIH HHS R01 EY017066NEI NIH HHS R01 EY11309NEI NIH HHS R01 EY16822
6 · The paper itself

Abstract

purposeDetermining the relationships between phenotype and genotype of many disorders can improve clinical diagnoses, identify disease mechanisms, and enhance therapy. Most genetic disorders result from interaction of many genes that obscure the discovery of such relationships. The hypothesis for this study was that image analysis has the potential to enable formalized discovery of new visible phenotypes. It was tested in twins affected with age-related macular degeneration (AMD).

methodsFundus images from 43 monozygotic (MZ) and 32 dizygotic (DZ) twin pairs with AMD were examined. First, soft and hard drusen were segmented. Then newly defined phenotypes were identified by using drusen distribution statistics that significantly separate MZ from DZ twins. The ACE model was used to identify the contributions of additive genetic (A), common environmental (C), and nonshared environmental (E) effects on drusen distribution phenotypes.

resultsFour drusen distribution characteristics significantly separated MZ from DZ twin pairs. One encoded the quantity, and the remaining three encoded the spatial distribution of drusen, achieving a zygosity prediction accuracy of 76%, 74%, 68%, and 68%. Three of the four phenotypes had a 55% to 77% genetic effect in an AE model, and the fourth phenotype showed a nonshared environmental effect (E model).

conclusionsComputational discovery of genetically determined features can reveal quantifiable AMD phenotypes that are genetically determined without explicitly linking them to specific genes. In addition, it can identify phenotypes that appear to result predominantly from environmental exposure. The approach is rapid and unbiased, suitable for large datasets, and can be used to reveal unknown phenotype-genotype relationships.

Indexed as

Aged, 80 and overDiseases in TwinsFemaleGenetic Predisposition to DiseaseGenotypeHumansMacular DegenerationMalePhenotypeRegistriesRetinal DrusenTwins, DizygoticTwins, Monozygotic

Identifiers

PMID22039249
PMCPMC3302481
OpenAlexW2065986512

What OpenQuestion holds

Textmetadata
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.