Additional file 2 of Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Additional file 2: Table S1. Clinical parameters, cohort classification and chr5:60,111,983 genotypes of 35 Dobermanns evaluated in Uppsala, Sweden. Table S2. A list of 393 public or in-house genomes from wolves and 87 dog breeds used in filtering and variant screening. Table S3. Distribution of the chr5:53,109,178G>A variant in 321 array genotyped Dobermanns, 10 Dobermann whole genomes and 393 non-Dobermann whole genomes. Table S4. Primer sequences, total concentration in reaction (Conc.), annealing temperature (An. temp) and assays used in transcript analyses. Table S5. Phenotype definitions used with UK Biobank data. CAD = coronary artery disease, LVSD = left ventricular systolic dysfunction. Table S6. Results of various univariate linear mixed model association analyses in GEMMA with different case subcohorts. Table S7. Association of sex and risk SNPs chr53:109,178 and chr5:60,531,090 with echocardiographic changes in the logistic regression analysis. Table S8. Association of sex and risk SNPs chr53:109,178 and chr5:60,531,090 with echocardiographic changes. Cases from the replication cohort were included. Table S9. Variants in the minor locus region (chr5:50-54 Mb) shared by two DCM-affected Dobermanns with A/A at the risk SNP chr5:53,109,178 and present in less than 10 % of 366 non-Dobermann genomes. Table S10. Variants in the minor locus region (chr5:50-54 Mb) shared by three DCM-affected Dobermanns with G/G at the risk SNP chr5:53,109,178 and present in less than 10 % of 366 non-Dobermann genomes. Table S11. Variants in the major locus region (chr5:58.2-63.3 Mb) shared by eight DCM-affected Dobermanns with A/A (N = 7) or G/A (N = 1) at the risk SNP chr5:60,531,090 and present in less than 10 % of 366 non-Dobermann genomes. Table S12. Gene content and annotation of the minor locus and flanking regions (chr5:50.0-54.0 Mb). Table S13. Gene content and annotation of the major locus and flanking regions (chr5:58.2-63.3 Mb). Table S14. Partial amino acid sequences and conservation of 94 Eutherian RNF207 orthologs. Table S15. Distribution of the chr5:60,111,983G>A variant in 9 RNA sequenced Dobermanns, 10 whole-genome sequenced Dobermanns and 393 non-Dobermann whole genomes from wolves and 87 dog breeds. Table S16. Distribution of the chr5:60,111,983G>A variant in 14230 dogs from 319 breeds or breed varieties genotyped on a commercial platform. Table S17. Potentially damaging variants in RNF207 identified in cardiomyopathy patients (UMCU and AMC), in UK Biobank participants diagnosed with DCM (UKBiobank) or in cardiomyopathy patients in the FinnGen consortium. Table S18. Potentially damaging variants in PRKAA2 identified in cardiomyopathy patients (UMCU and AMC), in UK Biobank participants diagnosed with DCM (UKBiobank) or in cardiomyopathy patients in the FinnGen consortium.