Evidence map›Paper›PMID 36292693›Full record

ArticleGenes2022

Genome Wide Association Study with Imputed Whole Genome Sequence Data Identifies a 431 kb Risk Haplotype on CFA18 for Congenital Laryngeal Paralysis in Alaskan Sled Dogs.

Krishnamoorthy Srikanth, Dirsko J F von Pfeil, Bryden J Stanley, Caroline Griffitts, Heather J Huson

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. 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
1.1field-weighted citation impact, top 20% 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, 6 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

5 authors at 3 institutions in 1 country.

Krishnamoorthy SrikanthDepartment of Animal Science, College of Agriculture and Life Science, Cornell University, Ithaca, NY 14850, USA.ORCID 0000-0002-5205-193X
Dirsko J F von PfeilSmall Animal Surgery Locum, PLLC, Dallas, TX 75201, USA.ORCID 0000-0002-1905-9008
Bryden J StanleyDepartment of Small Animal Clinical Sciences, Michigan State University, East Lansing, MI 48824, USA.
Caroline GriffittsThe Travelling Vet LLC, Loveland, CO 80537, USA.
Heather J HusonDepartment of Animal Science, College of Agriculture and Life Science, Cornell University, Ithaca, NY 14850, USA.ORCID 0000-0001-8299-0447
Cornell University · USMesalands Community College · USMichigan State University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital laryngeal paralysis (CLP) is an inherited disorder that affects the ability of the dog to exercise and precludes it from functioning as a working sled dog. Though CLP is known to occur in Alaskan sled dogs (ASDs) since 1986, the genetic mutation underlying the disease has not been reported. Using a genome-wide association study (GWAS), we identified a 708 kb region on CFA 18 harboring 226 SNPs to be significantly associated with CLP. The significant SNPs explained 47.06% of the heritability of CLP. We narrowed the region to 431 kb through autozygosity mapping and found 18 of the 20 cases to be homozygous for the risk haplotype. Whole genome sequencing of two cases and a control ASD, and comparison with the genome of 657 dogs from various breeds, confirmed the homozygous status of the risk haplotype to be unique to the CLP cases. Most of the dogs that were homozygous for the risk allele had blue eyes. Gene annotation and a gene-based association study showed that the risk haplotype encompasses genes implicated in developmental and neurodegenerative disorders. Pathway analysis showed enrichment of glycoproteins and glycosaminoglycans biosynthesis, which play a key role in repairing damaged nerves. In conclusion, our results suggest an important role for the identified candidate region in CLP.

Indexed as

Dog DiseasesVocal Cord ParalysisAnimalsDogsEye ColorGenome-Wide Association StudyGlycosaminoglycansHaplotypesGlycosaminoglycansAlaskan huskyAlaskan sled dogALX4CFA18congenital laryngeal paralysisEXT2GWASrisk haplotypeTSPAN53I11WGS

Identifiers

PMID36292693
PMCPMC9602090
OpenAlexW4303685856

What OpenQuestion holds

Textmetadata
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.