Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs.


Journal

BMC genomics
ISSN: 1471-2164
Titre abrégé: BMC Genomics
Pays: England
ID NLM: 100965258

Informations de publication

Date de publication:
16 Apr 2020
Historique:
received: 29 11 2019
accepted: 24 03 2020
entrez: 18 4 2020
pubmed: 18 4 2020
medline: 15 12 2020
Statut: epublish

Résumé

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 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.

Sections du résumé

BACKGROUND BACKGROUND
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.
RESULTS RESULTS
By employing genome-wide association followed by fine-mapping (top variant p-value = 5.7 × 10
CONCLUSIONS CONCLUSIONS
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.

Identifiants

pubmed: 32299354
doi: 10.1186/s12864-020-6700-3
pii: 10.1186/s12864-020-6700-3
pmc: PMC7160888
doi:

Substances chimiques

Interferon-alpha 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

307

Subventions

Organisme : European Commission (LUPA)
ID : FP7 201370
Organisme : Svenska Forskningsrådet Formas (SE)
ID : 2010-629
Organisme : Agria Djurförsäkring (SE) and Svenska KennelKlubben (SE)
ID : N2011-0039
Organisme : European Science Foundation
ID : EURYI Award
Organisme : European Research Council
ID : ERC Young Investigator Award
Pays : International
Organisme : Vetenskapsrådet (SE)
ID : Distinguished professorship

Références

PLoS One. 2014 Mar 13;9(3):e91172
pubmed: 24625832
N Z Vet J. 2011 May;59(3):105-14
pubmed: 21541883
PLoS One. 2015 Aug 11;10(8):e0134720
pubmed: 26261983
PLoS One. 2015 Jul 30;10(7):e0133844
pubmed: 26225558
PLoS Genet. 2016 May 12;12(5):e1006000
pubmed: 27171399
Nature. 2015 Jan 29;517(7536):608-11
pubmed: 25383537
Genome Res. 2000 Sep;10(9):1271-4
pubmed: 10984444
Endocr J. 1994 Oct;41(5):565-72
pubmed: 7889118
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Am J Hum Genet. 2007 Jun;80(6):1037-54
pubmed: 17503323
Ann Rheum Dis. 2005 Dec;64(12):1692-7
pubmed: 15843451
Am Fam Physician. 2012 Aug 1;86(3):244-51
pubmed: 22962987
Can Vet J. 1990 Dec;31(12):830-5
pubmed: 17423707
Nat Genet. 2007 Nov;39(11):1321-8
pubmed: 17906626
Front Immunol. 2013 Aug 19;4:238
pubmed: 23966997
Bioinformatics. 2015 Dec 1;31(23):3830-1
pubmed: 26249815
Mol Biol Evol. 1996 Jan;13(1):93-104
pubmed: 8583911
J Immunol. 2011 Apr 15;186(8):4693-706
pubmed: 21402899
Am J Hum Genet. 2007 Nov;81(5):1084-97
pubmed: 17924348
G3 (Bethesda). 2016 Jul 07;6(7):2213-23
pubmed: 27207956
Clin Exp Rheumatol. 2016 Jul-Aug;34(4 Suppl 98):21-4
pubmed: 27586799
Vet Rec. 2000 Apr 29;146(18):519-25
pubmed: 11321213
Clin Transl Immunology. 2016 May 13;5(5):e79
pubmed: 27350879
Vet Clin North Am Small Anim Pract. 2007 Jul;37(4):617-31, v
pubmed: 17619002
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
J Am Vet Med Assoc. 2002 Feb 15;220(4):466-71
pubmed: 11860240
Endocrinology. 1968 Sep;83(3):501-8
pubmed: 5695421
Nat Rev Genet. 2015 Mar;16(3):172-83
pubmed: 25645873
Nature. 2005 Dec 8;438(7069):803-19
pubmed: 16341006
PLoS Genet. 2013 May;9(5):e1003475
pubmed: 23671420
Domest Anim Endocrinol. 1998 Nov;15(6):525-36
pubmed: 9861543
Vet Clin North Am Small Anim Pract. 2007 Jul;37(4):647-69, v
pubmed: 17619004
Vet Rec. 1999 Oct 23;145(17):481-7
pubmed: 10596870
Drugs. 2012 Jan 1;72(1):17-33
pubmed: 22191793
Tissue Antigens. 2006 Jul;68(1):82-6
pubmed: 16774545
Vet Clin North Am Small Anim Pract. 2001 Sep;31(5):915-33, vi-vii
pubmed: 11570132
Nucleic Acids Res. 2012 Aug;40(15):e115
pubmed: 22730293
Nature. 2013 Mar 21;495(7441):360-4
pubmed: 23354050
Vet Pathol. 1996 Sep;33(5):486-94
pubmed: 8885174
Am J Hum Genet. 2016 Jan 7;98(1):116-26
pubmed: 26748515
Nature. 2011 Oct 12;478(7370):476-82
pubmed: 21993624
Nature. 2015 Feb 19;518(7539):317-30
pubmed: 25693563
Reprod Domest Anim. 2009 Jul;44 Suppl 2:211-3
pubmed: 19754571
J Endocrinol Invest. 1997 Jul-Aug;20(7):374-80
pubmed: 9309534
Nature. 2012 Sep 6;489(7414):57-74
pubmed: 22955616
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Nat Rev Genet. 2008 Sep;9(9):713-25
pubmed: 18714291
Genome Res. 2002 Jun;12(6):996-1006
pubmed: 12045153
Lancet. 1985 May 18;1(8438):1166
pubmed: 2860373
Mamm Genome. 2004 Jun;15(6):503-6
pubmed: 15181542
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Nat Genet. 2007 Nov;39(11):1318-20
pubmed: 17906623
J Mol Biol. 1997 Apr 25;268(1):78-94
pubmed: 9149143
Clin Immunol Immunopathol. 1997 Sep;84(3):223-43
pubmed: 9281381
PLoS One. 2013 Oct 28;8(10):e75707
pubmed: 24204578
Brief Bioinform. 2019 Jul 19;20(4):1160-1166
pubmed: 28968734
Genome Res. 2011 Jun;21(6):974-84
pubmed: 21324876
Bioinformatics. 2007 May 15;23(10):1294-6
pubmed: 17384015
J Comp Pathol. 1983 Jul;93(3):415-21
pubmed: 6688431
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Adv Vet Sci Comp Med. 1995;39:97-139
pubmed: 8578979
Nucleic Acids Res. 2016 Jan 4;44(D1):D733-45
pubmed: 26553804
J Small Anim Pract. 2009 Apr;50(4):176-9
pubmed: 19320811
J Clin Endocrinol Metab. 2018 Oct 1;103(10):3678-3687
pubmed: 30113675
Nat Genet. 2010 Mar;42(3):250-4
pubmed: 20101241
PLoS Genet. 2011 Mar;7(3):e1001332
pubmed: 21437276
BMC Genomics. 2017 Jun 29;18(1):495
pubmed: 28662691
Bioinformatics. 2007 May 15;23(10):1289-91
pubmed: 17379693
J Mol Biol. 1990 Oct 5;215(3):403-10
pubmed: 2231712
N Z Vet J. 2011 May;59(3):115-22
pubmed: 21541884
PLoS Med. 2006 Dec;3(12):e491
pubmed: 17177599
Genetics. 2002 Jan;160(1):305-11
pubmed: 11805065
Tissue Antigens. 2006 Jan;67(1):53-6
pubmed: 16451201
Curr Opin Immunol. 2012 Oct;24(5):530-7
pubmed: 22889593
Tissue Antigens. 2010 Jun;75(6):712-9
pubmed: 20210920
Proc Natl Acad Sci U S A. 2016 May 31;113(22):E3091-100
pubmed: 27185954
J Exp Med. 2003 Mar 17;197(6):711-23
pubmed: 12642603
Nat Rev Genet. 2013 Feb;14(2):125-38
pubmed: 23329113
J Biol Chem. 2011 Sep 9;286(36):31168-79
pubmed: 21757724

Auteurs

Matteo Bianchi (M)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden. matteo.bianchi@imbim.uu.se.

Nima Rafati (N)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Åsa Karlsson (Å)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Eva Murén (E)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Carl-Johan Rubin (CJ)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Katarina Sundberg (K)

Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.

Göran Andersson (G)

Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.

Olle Kämpe (O)

Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.

Åke Hedhammar (Å)

Department of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.

Kerstin Lindblad-Toh (K)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Gerli Rosengren Pielberg (G)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Articles similaires

Robotic Surgical Procedures Animals Humans Telemedicine Models, Animal

Odour generalisation and detection dog training.

Lyn Caldicott, Thomas W Pike, Helen E Zulch et al.
1.00
Animals Odorants Dogs Generalization, Psychological Smell
Animals TOR Serine-Threonine Kinases Colorectal Neoplasms Colitis Mice
Animals Tail Swine Behavior, Animal Animal Husbandry

Classifications MeSH