Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers

Am J Vet Res. 2010 May;71(5):527-33. doi: 10.2460/ajvr.71.5.527.

Abstract

Objective: To evaluate the serine protease inhibitor, Kazal type 1 (SPINK1) gene for variants and to determine their possible association with pancreatitis in Miniature Schnauzers.

Animals: 39 Miniature Schnauzers with pancreatitis, 25 healthy Miniature Schnauzers, and 23 healthy dogs of other breeds.

Procedures: The entire canine SPINK1 gene with its intron-exon boundaries was initially sequenced in 22 Miniature Schnauzers. Then, 2 regions of the gene were sequenced in 65 additional canine DNA samples at the locations of variants identified in the initial sequencing of the entire SPINK1 gene.

Results: Analysis of the SPINK1 gene in Miniature Schnauzers revealed 3 closely associated variants in healthy Miniature Schnauzers and Miniature Schnauzers with pancreatitis. These variants consisted of 2 missense mutations in the second exon (N20K and N25T) and a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11). Pancreatitis was significantly associated with homozygous alleles for these 3 variants in Miniature Schnauzers. In healthy dogs of other breeds, only the 2 exon variants were identified.

Conclusions and clinical relevance: Variants of the SPINK1 gene may be associated with the development of pancreatitis in Miniature Schnauzers.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • DNA Primers
  • Dog Diseases / genetics*
  • Dogs
  • Exons / genetics
  • Genetic Variation*
  • Humans
  • Intercellular Signaling Peptides and Proteins / chemistry
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Introns / genetics
  • Lipase / genetics
  • Molecular Sequence Data
  • Pancreatitis / genetics
  • Pancreatitis / veterinary*
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Serine Proteinase Inhibitors / genetics*
  • Trypsin Inhibitor, Kazal Pancreatic

Substances

  • Carrier Proteins
  • DNA Primers
  • Intercellular Signaling Peptides and Proteins
  • SPINK1 protein, human
  • Serine Proteinase Inhibitors
  • Trypsin Inhibitor, Kazal Pancreatic
  • Lipase