Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs
作者: Katarina TengvallSergey KozyrevMarcin KierczakKerstin BergvallFabiana H. G. FariasBrita Ardesjö-LundgrenMia OlssonEva MurénRagnvi HagmanTosso LeebGerli PielbergÅke HedhammarGöran AnderssonKerstin Lindblad-Toh
作者单位: 1Uppsala University
2Swedish University of Agricultural Sciences
3Karolinska Institute
4University of Bern
5Broad Institute of MIT and Harvard
刊名: BMC Genetics, 2016, Vol.17 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12863-016-0404-3
关键词: PKP2Atopic dermatitisGenetic associationLuciferase reporter assayCell type-specific enhancersDogPlakophilin 2Eczema
英文摘要: Abstract(#br) Background(#br)Canine atopic dermatitis (CAD) is a chronic inflammatory skin disease triggered by allergic reactions involving IgE antibodies directed towards environmental allergens. We previously identified a ~1.5 Mb locus on canine chromosome 27 associated with CAD in German shepherd dogs (GSDs). Fine-mapping indicated association closest to the PKP2 gene encoding plakophilin 2.(#br) Results(#br)Additional genotyping and association analyses in GSDs combined with control dogs from five breeds with low-risk for CAD revealed the top SNP 27:19,086,778 ( p = 1.4 × 10−7) and a rare ~48 kb risk haplotype overlapping the PKP2 gene and shared only with other high-risk CAD breeds. We selected altogether nine SNPs (four top-associated in GSDs and five within the ~48 kb...
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影响因子:2.808 (2012)

  • locus 轨迹
  • major 知的
  • specific 
  • shepherd 牧羊人
  • atopic 特异反应性的
  • regulatory 控制的
  • German 德国人
  • within 在以内
  • canine 大齿
  • dermatitis 皮炎