MOESM1 of Occurrence of cardiorespiratory diseases and impact on lifespan in Swedish Irish Wolfhounds: a retrospective questionnaire-based study

Additional file 1: Questionnaire. A translated English version of the questionnaire distributed to owners of purebred Irish Wolfhounds born during 2006–2008

Supplement Figure 1

The stability of cardiac troponin I (cTnI) concentration in serum samples from three cats with hypertrophic cardiomyopathy (HCM) after storage in the dark at 20°C</p

Supplement Table 2

Auscultation, basic echocardiographic and laboratory variables in 96 healthy cats and 39 cats with hypertrophic cardiomyopathy (HCM)</p

Supplement Table 1

Auscultation, basic echocardiographic and laboratory variables in 96 healthy Birman, Domestic Shorthair (DSH), and Norwegian Forest (NF) cats</p

Supplement 1 Stability study

The concentration of cTnI decreased in serum samples stored at 20°C. After three days, the mean decrease was 4% in comparison with the initial value. Mean decrease was 14% after 5 days and 20% after 7 days (Supplement Figure 1). The cTnI concentration changed from -1 to 5% after three freeze-thaw cycles.</p

Data_Sheet_1_Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.docx

IntroductionThe correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification.MethodsGenetic samples were sourced from five cat breeds: Maine Coon, Sphynx, Ragdoll, Devon Rex, and British Short- and Longhair. Allele frequencies were determined, and in the subset with phenotypes available, odds ratios to determine the association with HCM were calculated. In silico evaluation followed with joint evidence and data from other publications assisting in the classification of each variant.ResultsTwo variants, MYBPC3:c.91G > C [A31P] and MYBPC3:c.2453C > T [R818W], were designated as pathogenic. One variant, MYH7:c.5647G > A [E1883K], was found likely pathogenic, while the remaining three were labeled as variants of unknown significance.DiscussionRoutine genetic testing is advised solely for the MYBPC3:c.91G > C [A31P] in the Maine Coon and MYBPC3:c.2453C > T [R818W] in the Ragdoll breed. The human ACMG guidelines serve as a suitable foundational tool to ascertain which variants to include; however, refining them for application in veterinary medicine might be beneficial.</p

Two-locus genotype-phenotype map for FructoCFA3 and the CFA5 locus with reduced heterozygosity in the Belgian shepherd breed.

<p>The CFA5 interactor genotype is given above and the FructoCFA3 genotype below the figure. The top panel includes only non-BS dogs, and the bottom panel only BS dogs. The proportion of phenotypic variance explained by FructoCFA3 and the p-value of the correlation, in every strata defined by the interactor, are shown at the bottom. The number of individuals in every group are shown in the center of the boxes.</p

Summary of identified loci.

<p>The table shows the leading SNPs at the two loci on CFA3 and CFA5.</p

A reduced heterozygosity region on CFA5 specific to Belgian shepherds, German shepherds and Boxers.

<p>In panel (A), −<i>log</i>₁₀(<i>p</i>−<i>value</i>) of the difference in reference allele count between Belgian shepherds, German shepherds and, Boxers vs. remaining breeds is presented. The three lines in the top panel show the <i>F</i>_<i>ST</i> values for three sets of comparisons: BS vs. all the remaining breeds (blue), pooled BS and GS vs. all the remaining breeds (red) as well as for pooled BS, GS and BOX vs. all the remaining breeds (black). The <i>F</i>_<i>ST</i> is averaged in a sliding window of 21 SNPs. The middle panel shows the allele frequencies per SNP for BS, GS, BOX (green) and the other breeds (blue). Panel (B) provides a detailed view on the most significantly differentiated region. Genes compiled from UCSC canine annotation, Broad Improved Canine Annotation v1 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0123173#pone.0123173.ref022" target="_blank">22</a>] and RefSeq [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0123173#pone.0123173.ref023" target="_blank">23</a>] human homologue genes are represented by blue rectangles. Arrows show transcription direction. All annotation units likely to be pseudogenes were removed with the exception of AFG3L1P which overlaps with the strongest signal in the scan for allele frequency difference. Also conservation across species (human, mouse, rat) is shown. Letters on panel (A) mark loci with the lowest p-value and the same letters are used in panel (B) to denote position of the same markers.</p

Forsberg et al. Fructosamine data

Forsberg et al. Fructosamine dat