Evidence map›Paper›PMID 24777202›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2014

Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats.

Hasan Alhaddad, Barbara Gandolfi, Robert A Grahn, Hyung-Chul Rah, Carlyn B Peterson, David J Maggs, Kathryn L Good, Niels C Pedersen, Leslie A Lyons

Open access · hybridAbstract read
In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 21% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

  1. Pooled it
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  15. Evidence of selection signatures that shape the Persian cat breed.Mammalian genome : official journal of the International Mammalian Genome Society · 2016
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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

9 authors at 3 institutions in 2 countries.

Hasan AlhaddadDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California - Davis, Davis, CA, 95616, USA.
Barbara Gandolfi
Robert A Grahn
Hyung-Chul Rah
Carlyn B Peterson
David J Maggs
Kathryn L Good
Niels C Pedersen
Leslie A Lyons
University of California, Davis · USChungbuk National University · KRUniversity of Missouri · US

Funding

Genetic Mapping Resources for Common Mammalian DiseasesR24RR016094 · NCRR · UNIVERSITY OF CALIFORNIA DAVIS · PI LYONS, LESLIE A · 2002 to 2011
$3.0M
Genetic Mapping Resources for Common Mammalian DiseasesR24OD010928 · OD · UNIVERSITY OF MISSOURI-COLUMBIA · PI LYONS, LESLIE A · 2012 to 2015
$911k
HSRD VA CDA 10-014NCRR NIH HHS R24 RR016094NIH HHS R24 OD010928NIH HHS R24OD010928
6 · The paper itself

Abstract

Hereditary eye diseases of animals serve as excellent models of human ocular disorders and assist in the development of gene and drug therapies for inherited forms of blindness. Several primary hereditary eye conditions affecting various ocular tissues and having different rates of progression have been documented in domestic cats. Gene therapy for canine retinopathies has been successful, thus the cat could be a gene therapy candidate for other forms of retinal degenerations. The current study investigates a hereditary, autosomal recessive, retinal degeneration specific to Persian cats. A multi-generational pedigree segregating for this progressive retinal atrophy was genotyped using a 63 K SNP array and analyzed via genome-wide linkage and association methods. A multi-point parametric linkage analysis localized the blindness phenotype to a ~1.75 Mb region with significant LOD scores (Z ≈ 14, θ = 0.00) on cat chromosome E1. Genome-wide TDT, sib-TDT, and case-control analyses also consistently supported significant association within the same region on chromosome E1, which is homologous to human chromosome 17. Using haplotype analysis, a ~1.3 Mb region was identified as highly associated for progressive retinal atrophy in Persian cats. Several candidate genes within the region are reasonable candidates as a potential causative gene and should be considered for molecular analyses.

Indexed as

Disease ProgressionGenetic LinkageGenome-Wide Association StudyAnimalsAtrophyCase-Control StudiesCat DiseasesCatsChromosomes, MammalianDogsFemaleGenetic Association StudiesGenetic LociGenetic MarkersGenomeHaplotypesGenetic Markers

Identifiers

PMID24777202
PMCPMC4105591
OpenAlexW2027979620

What OpenQuestion holds

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LicenceCC BY
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.