Correlation Engine 2.0
Clear Search sequence regions


  • 5 utr (2)
  • alleles (30)
  • alopecia (1)
  • amino acid sequence (1)
  • and diseases (2)
  • antigen (2)
  • autoantibodies (1)
  • b lymphocytes (1)
  • blood (1)
  • breast cancer (1)
  • breeds (32)
  • cancers (1)
  • cases (47)
  • cellular (1)
  • cluster (9)
  • cluster genes (1)
  • cold (1)
  • control form (1)
  • control groups (7)
  • copies (1)
  • croatia (1)
  • cytokines (1)
  • d protein (1)
  • data quality (1)
  • Del1 (4)
  • Del3 (16)
  • disease susceptibility (4)
  • dna polymerase (2)
  • dog (43)
  • edta (2)
  • ELAVL2 (1)
  • electrophoresis (1)
  • element (14)
  • equilibrium (1)
  • estonia (1)
  • exon (2)
  • factor (5)
  • family (2)
  • follow up studies (1)
  • fusion gene (3)
  • gc content (1)
  • gene (40)
  • genes b (1)
  • genes c (1)
  • genomes (1)
  • genotypes (12)
  • gold (1)
  • hormones (1)
  • humans (14)
  • IFN α (5)
  • IFNA (29)
  • IFNA7 (18)
  • IFNs (4)
  • impaired (1)
  • Interferon (10)
  • Interferon alpha (3)
  • japan (1)
  • linear model (2)
  • lod score (3)
  • low (27)
  • lupus erythematosus (1)
  • Mbp (10)
  • mem (1)
  • meta analysis (1)
  • native (1)
  • nervous system diseases (1)
  • odds ratio (4)
  • patients (2)
  • pcr (13)
  • pedigrees (1)
  • probability (2)
  • products (6)
  • protein- gene (3)
  • questionnaires (1)
  • random (1)
  • read (20)
  • risk disease (4)
  • risk factors (3)
  • rna (1)
  • segregates (1)
  • sequences analysis (1)
  • serum (4)
  • sex (3)
  • sex bias (1)
  • shadow (1)
  • signal (4)
  • study cohort (5)
  • study samples (3)
  • study time (1)
  • t lymphocytes (1)
  • thyroglobulin (3)
  • thyroid (6)
  • thyroid disease (1)
  • thyroid hormones (1)
  • type i interferon (3)
  • vital (1)
  • weight gain (1)
  • Wheeler (2)
  • Sizes of these terms reflect their relevance to your search.

    Hypothyroidism is a common complex endocrinopathy that typically has an autoimmune etiology, and it affects both humans and dogs. Genetic and environmental factors are both known to play important roles in the disease development. In this study, we sought to identify the genetic risk factors potentially involved in the susceptibility to the disease in the high-risk Giant Schnauzer dog breed. By employing genome-wide association followed by fine-mapping (top variant p-value = 5.7 × 10- 6), integrated with whole-genome resequencing and copy number variation analysis, we detected a ~ 8.9 kbp deletion strongly associated (p-value = 0.0001) with protection against development of hypothyroidism. The deletion is located between two predicted Interferon alpha (IFNA) genes and it may eliminate functional elements potentially involved in the transcriptional regulation of these genes. Remarkably, type I IFNs have been extensively associated to human autoimmune hypothyroidism and general autoimmunity. Nonetheless, the extreme genomic complexity of the associated region on CFA11 warrants further long-read sequencing and annotation efforts in order to ascribe functions to the identified deletion and to characterize the canine IFNA gene cluster in more detail. Our results expand the current knowledge on genetic determinants of canine hypothyroidism by revealing a significant link with the human counterpart disease, potentially translating into better diagnostic tools across species, and may contribute to improved canine breeding strategies.

    Citation

    Matteo Bianchi, Nima Rafati, Åsa Karlsson, Eva Murén, Carl-Johan Rubin, Katarina Sundberg, Göran Andersson, Olle Kämpe, Åke Hedhammar, Kerstin Lindblad-Toh, Gerli Rosengren Pielberg. Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs. BMC genomics. 2020 Apr 16;21(1):307

    Expand section icon Mesh Tags

    Expand section icon Substances


    PMID: 32299354

    View Full Text