Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed
Department of Agricultural, Forest and Food Sciences, University of Torino, Largo Baccini 2, 10095 Grugliasco (TO), Italy
Associazione Nazionale Allevatori Bovini di Razza Piemontese, strada provinciale Trinita’ 31/A, 12061 Carrù (CN), Italy
Department of Agriculture, University of Sassari, Via De Nicola 9, 07100 Sassari, Italy
Author to whom correspondence should be addressed.
Received: 7 September 2020 / Revised: 17 September 2020 / Accepted: 18 September 2020 / Published: 24 September 2020
The study was carried out in order to investigate the genetic background of arthrogryposis and macroglossia in the Piemontese cattle breed, for which limited information is available so far. The genotyping of affected and healthy animals with a high-density chip and the subsequent genome-wide association study did not evidence a single strong association with the two pathologies. Therefore, for arthrogryposis, the results do not support the existence of a single-gene model, as reported for other breeds. Rather, 23 significant markers on different chromosomes were found, associated to arthrogryposis, to macroglossia, or to both pathologies, suggesting a more complex genetic mechanism underlying both diseases in the Piemontese breed. The significant single nucleotide polymorphisms (SNPs) allowed the identification of some genes (NTN3, KCNH1, KCNH2, and KANK3) for which a possible role in the pathologies can be hypothesized. The real involvement of these genes needs to be further investigated and validated.