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The TNNT2:c.95‐108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy

Tom Schipper, Åsa Ohlsson, Maria Longeri, Jessica J. Hayward, Lara Mouttham, Paolo Ferrari, Pascale Smets (UGent) , Ingrid Ljungvall, Jens Häggström, Joshua A. Stern, et al.
(2022) ANIMAL GENETICS. 53(4). p.526-529
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Abstract
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.
Keywords
Genetics, Animal Science and Zoology, General Medicine, allele frequency, Felis catus, hypertrophic cardiomyopathy, intronic variant, troponin, PROTEIN-C MUTATION, CATS, PREVALENCE

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MLA
Schipper, Tom, et al. “The  TNNT2:C.95‐108G>A Variant Is Common in Maine Coons and Shows No Association with Hypertrophic Cardiomyopathy.” ANIMAL GENETICS, vol. 53, no. 4, 2022, pp. 526–29, doi:10.1111/age.13223.
APA
Schipper, T., Ohlsson, Å., Longeri, M., Hayward, J. J., Mouttham, L., Ferrari, P., … Broeckx, B. (2022). The  TNNT2:c.95‐108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy. ANIMAL GENETICS, 53(4), 526–529. https://doi.org/10.1111/age.13223
Chicago author-date
Schipper, Tom, Åsa Ohlsson, Maria Longeri, Jessica J. Hayward, Lara Mouttham, Paolo Ferrari, Pascale Smets, et al. 2022. “The  TNNT2:C.95‐108G>A Variant Is Common in Maine Coons and Shows No Association with Hypertrophic Cardiomyopathy.” ANIMAL GENETICS 53 (4): 526–29. https://doi.org/10.1111/age.13223.
Chicago author-date (all authors)
Schipper, Tom, Åsa Ohlsson, Maria Longeri, Jessica J. Hayward, Lara Mouttham, Paolo Ferrari, Pascale Smets, Ingrid Ljungvall, Jens Häggström, Joshua A. Stern, Leslie A. Lyons, Luc Peelman, and Bart Broeckx. 2022. “The  TNNT2:C.95‐108G>A Variant Is Common in Maine Coons and Shows No Association with Hypertrophic Cardiomyopathy.” ANIMAL GENETICS 53 (4): 526–529. doi:10.1111/age.13223.
Vancouver
1.
Schipper T, Ohlsson Å, Longeri M, Hayward JJ, Mouttham L, Ferrari P, et al. The  TNNT2:c.95‐108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy. ANIMAL GENETICS. 2022;53(4):526–9.
IEEE
[1]
T. Schipper et al., “The  TNNT2:c.95‐108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy,” ANIMAL GENETICS, vol. 53, no. 4, pp. 526–529, 2022.
@article{8754776,
  abstract     = {{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.}},
  author       = {{Schipper, Tom and Ohlsson, Åsa and Longeri, Maria and Hayward, Jessica J. and Mouttham, Lara and Ferrari, Paolo and Smets, Pascale and Ljungvall, Ingrid and Häggström, Jens and Stern, Joshua A. and Lyons, Leslie A. and Peelman, Luc and Broeckx, Bart}},
  issn         = {{0268-9146}},
  journal      = {{ANIMAL GENETICS}},
  keywords     = {{Genetics,Animal Science and Zoology,General Medicine,allele frequency,Felis catus,hypertrophic cardiomyopathy,intronic variant,troponin,PROTEIN-C MUTATION,CATS,PREVALENCE}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{526--529}},
  title        = {{The  TNNT2:c.95‐108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy}},
  url          = {{http://doi.org/10.1111/age.13223}},
  volume       = {{53}},
  year         = {{2022}},
}
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