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Genetic evidence of subaortic stenosis in the Newfoundland dog
  1. S. B. Reist-Marti, Dr sc nat, PhD1,
  2. G. Dolf, Dr sc nat, PhD2,
  3. T. Leeb, Prof Dr rer nat2,
  4. S. Kottmann3,
  5. S. Kietzmann4,
  6. K. Butenhoff4 and
  7. S. Rieder1
  1. Swiss College of Agriculture, Bern University of Applied Sciences, Laengasse 85, CH-3052 Zollikofen, Switzerland
  2. Institute of Genetics, University of Bern, PO Box 8466, CH-3001 Bern, Switzerland
  3. The Swiss Newfoundland Club (SNK), p. A. R. Erni, Ligschwil 26b, CH-6280 Urswil, Switzerland
  4. The Newfoundlanddog Database, p. A. S. Kietzmann, Im Alten Dorf 12, D-29690 Grethem Büchten, Germany
  1. E-mail for correspondence: sabine.reist{at}alumni.ethz.ch

Abstract

Subaortic stenosis (SAS) is a cardiac disorder with a narrowing of the descending aorta below the left ventricular outflow tract of the heart. It occurs in several species and breeds. The Newfoundland is one of the dog breeds where it is more common and usually leads to death at early adulthood. It is still discussed to which extent SAS has a genetic background and what its mode of inheritance could be. Extensive pedigree data comprising more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis were analysed for genetic factors influencing SAS affection. The incidence and prevalence of SAS in the analysed Newfoundland population sample were much higher than those reported in previous studies on smaller population samples. Assuming that some SAS-affected dogs remained undiscovered or were not reported, these figures may even be underestimated. SAS-affected Newfoundland dogs were more often inbred and closer related to each other than unaffected dogs, which is an indicator for a genetic background of SAS. The sex had no significant impact on SAS affectedness, pointing at an autosomal inheritance. The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes.

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  • Accepted February 8, 2012.
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  • Provenance: not commissioned; externally peer reviewed

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