The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy.
Felis catus
allele frequency
hypertrophic cardiomyopathy
intronic variant
troponin
Journal
Animal genetics
ISSN: 1365-2052
Titre abrégé: Anim Genet
Pays: England
ID NLM: 8605704
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
revised:
05
04
2022
received:
28
02
2022
accepted:
15
05
2022
pubmed:
1
6
2022
medline:
9
7
2022
entrez:
31
5
2022
Statut:
ppublish
Résumé
Hypertrophic cardiomyopathy (HCM) is a common and potentially fatal heart disease in many cat breeds. An intronic variant in TNNT2, c.95-108G>A, was recently reported as the cause of HCM in the Maine Coon. The aim of this study was to determine this variant's allele frequency in different populations and its possible association with HCM. Based on 160 Maine Coon samples collected in Belgium, Italy, Sweden and the USA, the variant's allele frequency was estimated to be 0.32. Analysis of the 99 Lives feline whole genome sequencing database showed that the TNNT2 variant also occurs in other breeds, as well as mixed-breed cats. Comparison of 31 affected and 58 healthy cats did not reveal significantly increased odds for HCM in homozygotes. Based on the combined evidence and in agreement with the standards and guidelines for the interpretation of sequence variants, this variant is currently classified as a variant of unknown significance and should not be used for breeding decisions regarding HCM.
Substances chimiques
Carrier Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
526-529Subventions
Organisme : Bijzonder Onderzoeksfonds
Organisme : Svenska Forskningsrådet Formas
Informations de copyright
© 2022 Stichting International Foundation for Animal Genetics.
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