Evidence map›Paper›PMID 31881848›Full record

ArticleBMC genomics2019

Genetic dissection of canine hip dysplasia phenotypes and osteoarthritis reveals three novel loci.

Lea Mikkola, Saila Holopainen, Tiina Pessa-Morikawa, Anu K Lappalainen, Marjo K Hytönen, Hannes Lohi, Antti Iivanainen

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 12% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
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  7. NADPH Oxidase 3: Beyond the Inner Ear.Antioxidants (Basel, Switzerland) · 2024
    Review
  8. Article
  9. A comprehensive review of genomic perspectives of canine diseases as a model to study human disorders.Canadian journal of veterinary research = Revue canadienne de recherche veterinaire · 2023
    Review
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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

7 authors at 1 institution in 1 country.

Lea MikkolaDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland.
Saila HolopainenDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland.
Tiina Pessa-MorikawaDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland.
Anu K LappalainenDepartment of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland.
Marjo K HytönenDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland.
Hannes LohiDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland.
Antti IivanainenDepartment of Veterinary Biosciences, University of Helsinki, P.O. Box 66 (Mustialankatu 1), FI-00014, Helsinki, Finland. antti.iivanainen@helsinki.fi.ORCID http://orcid.org/0000-0003-1002-3225
University of Helsinki · FI

Funding

American Kennel Club Canine Health Foundation 01828The Academy of Finland 252602
6 · The paper itself

Abstract

backgroundHip dysplasia and osteoarthritis continue to be prevalent problems in veterinary and human medicine. Canine hip dysplasia is particularly problematic as it massively affects several large-sized breeds and can cause a severe impairment of the quality of life. In Finland, the complex condition is categorized to five classes from normal to severe dysplasia, but the categorization includes several sub-traits: congruity of the joint, Norberg angle, subluxation degree of the joint, shape and depth of the acetabulum, and osteoarthritis. Hip dysplasia and osteoarthritis have been proposed to have separate genetic etiologies.

resultsUsing Fédération Cynologique Internationale -standardized ventrodorsal radiographs, German shepherds were rigorously phenotyped for osteoarthritis, and for joint incongruity by Norberg angle and femoral head center position in relation to dorsal acetabular edge. The affected dogs were categorized into mild, moderate and severe dysplastic phenotypes using official hip scores. Three different genome-wide significant loci were uncovered. The strongest candidate genes for hip joint incongruity were noggin (NOG), a bone and joint developmental gene on chromosome 9, and nanos C2HC-type zinc finger 1 (NANOS1), a regulator of matrix metalloproteinase 14 (MMP14) on chromosome 28. Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.

conclusionsOur findings highlight the complexity of canine hip dysplasia phenotypes. In particular, the results of this study point to the potential involvement of specific and partially distinct loci and genes or pathways in the development of incongruity, mild dysplasia, moderate-to-severe dysplasia and osteoarthritis of canine hip joints. Further studies should unravel the unique and common mechanisms for the various sub-traits.

Indexed as

Genetic Predisposition to DiseasePhenotypeQuantitative Trait LociAllelesAnimalsChromosome MappingDog DiseasesDogsGenetic Association StudiesGenome-Wide Association StudyHip Dysplasia, CanineOsteoarthritisPolymorphism, Single NucleotideDogGenome-wide association studyGerman shepherdHip dysplasiaOsteoarthritis

Identifiers

PMID31881848
PMCPMC6935090
OpenAlexW2998223539

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.