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Genome-wide association studies for multiple diseases of the German Shepherd Dog.

Abstract : The German Shepherd Dog (GSD) is a popular working and companion breed for which over 50 hereditary diseases have been documented. Herein, SNP profiles for 197 GSDs were generated using the Affymetrix v2 canine SNP array for a genome-wide association study to identify loci associated with four diseases: pituitary dwarfism, degenerative myelopathy (DM), congenital megaesophagus (ME), and pancreatic acinar atrophy (PAA). A locus on Chr 9 is strongly associated with pituitary dwarfism and is proximal to a plausible candidate gene, LHX3. Results for DM confirm a major locus encompassing SOD1, in which an associated point mutation was previously identified, but do not suggest modifier loci. Several SNPs on Chr 12 are associated with ME and a 4.7 Mb haplotype block is present in affected dogs. Analysis of additional ME cases for a SNP within the haplotype provides further support for this association. Results for PAA indicate more complex genetic underpinnings. Several regions on multiple chromosomes reach genome-wide significance. However, no major locus is apparent and only two associated haplotype blocks, on Chrs 7 and 12 are observed. These data suggest that PAA may be governed by multiple loci with small effects, or it may be a heterogeneous disorder.
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https://www.hal.inserm.fr/inserm-00645713
Contributor : Hervé de Villemeur <>
Submitted on : Monday, November 28, 2011 - 3:05:40 PM
Last modification on : Thursday, July 4, 2019 - 12:00:04 PM

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Kate Tsai, Rooksana Noorai, Alison Starr-Moss, Pascale Quignon, Caitlin Rinz, et al.. Genome-wide association studies for multiple diseases of the German Shepherd Dog.. Mammalian Genome, Springer Verlag, 2012, 23 (1-2), pp.203-11. ⟨10.1007/s00335-011-9376-9⟩. ⟨inserm-00645713⟩

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