Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing
Abstract Cardiomyopathies are the most common heritable heart diseases in cats and humans. This study aimed to identify novel genetic variants in cats with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) using a targeted panel of genes associated with human cardiomyopathy. Cat...
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Nature Portfolio
2025-01-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-025-87852-5 |
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| author | Jade Raffle Jose Novo Matos Marsha Wallace Lois Wilkie Richard J. Piercy Perry Elliott David J. Connolly Virginia Luis Fuentes Androniki Psifidi |
| author_facet | Jade Raffle Jose Novo Matos Marsha Wallace Lois Wilkie Richard J. Piercy Perry Elliott David J. Connolly Virginia Luis Fuentes Androniki Psifidi |
| author_sort | Jade Raffle |
| collection | DOAJ |
| description | Abstract Cardiomyopathies are the most common heritable heart diseases in cats and humans. This study aimed to identify novel genetic variants in cats with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) using a targeted panel of genes associated with human cardiomyopathy. Cats were phenotyped for HCM/RCM by echocardiography ± necropsy. DNA was extracted from residual blood, and targeted next-generation sequencing was performed on two separate feline cohorts: an across-breed cohort (23 healthy cats and 21 HCM-affected pedigree or Domestic Shorthair cats), and a within-breed cohort of Birman pedigree cats (14 healthy, 8 HCM-affected, and 6 RCM-affected). Genome Analysis Toolkit was used for variant discovery. Genomic association analyses, including the covariates breed, age, and sex, were conducted to identify genetic variants of interest. We identified genetic variants associated with both HCM and RCM susceptibility in the sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 and the non-sarcomeric gene CSRP3 in the Birman pedigree cats. These findings suggest that, as proposed in humans, there is at least partial overlap in the genetic background between the HCM and RCM phenotypes in cats. These findings offer potential insights for comparative cardiac research and translational medicine. |
| format | Article |
| id | doaj-art-0b16a55248d8453c97d47ffdd0d7242d |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-0b16a55248d8453c97d47ffdd0d7242d2025-02-02T12:24:35ZengNature PortfolioScientific Reports2045-23222025-01-0115111310.1038/s41598-025-87852-5Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencingJade Raffle0Jose Novo Matos1Marsha Wallace2Lois Wilkie3Richard J. Piercy4Perry Elliott5David J. Connolly6Virginia Luis Fuentes7Androniki Psifidi8Clinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeInstitute of Cardiovascular Science, University College LondonClinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeClinical Science and Services, Royal Veterinary CollegeAbstract Cardiomyopathies are the most common heritable heart diseases in cats and humans. This study aimed to identify novel genetic variants in cats with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) using a targeted panel of genes associated with human cardiomyopathy. Cats were phenotyped for HCM/RCM by echocardiography ± necropsy. DNA was extracted from residual blood, and targeted next-generation sequencing was performed on two separate feline cohorts: an across-breed cohort (23 healthy cats and 21 HCM-affected pedigree or Domestic Shorthair cats), and a within-breed cohort of Birman pedigree cats (14 healthy, 8 HCM-affected, and 6 RCM-affected). Genome Analysis Toolkit was used for variant discovery. Genomic association analyses, including the covariates breed, age, and sex, were conducted to identify genetic variants of interest. We identified genetic variants associated with both HCM and RCM susceptibility in the sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 and the non-sarcomeric gene CSRP3 in the Birman pedigree cats. These findings suggest that, as proposed in humans, there is at least partial overlap in the genetic background between the HCM and RCM phenotypes in cats. These findings offer potential insights for comparative cardiac research and translational medicine.https://doi.org/10.1038/s41598-025-87852-5 |
| spellingShingle | Jade Raffle Jose Novo Matos Marsha Wallace Lois Wilkie Richard J. Piercy Perry Elliott David J. Connolly Virginia Luis Fuentes Androniki Psifidi Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing Scientific Reports |
| title | Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing |
| title_full | Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing |
| title_fullStr | Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing |
| title_full_unstemmed | Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing |
| title_short | Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing |
| title_sort | identification of novel genetic variants associated with feline cardiomyopathy using targeted next generation sequencing |
| url | https://doi.org/10.1038/s41598-025-87852-5 |
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