High Prevalence of the c.74A>C SPINK1 Variant in Miniature and Standard Schnauzers
Article first published online: 13 OCT 2012
Copyright © 2012 by the American College of Veterinary Internal Medicine
Journal of Veterinary Internal Medicine
Volume 26, Issue 6, pages 1295–1299, November/December 2012
How to Cite
Furrow, E., Armstrong, P.J. and Patterson, E.E. (2012), High Prevalence of the c.74A>C SPINK1 Variant in Miniature and Standard Schnauzers. Journal of Veterinary Internal Medicine, 26: 1295–1299. doi: 10.1111/j.1939-1676.2012.01013.x
- Issue published online: 20 NOV 2012
- Article first published online: 13 OCT 2012
- Manuscript Accepted: 29 AUG 2012
- Manuscript Revised: 31 JUL 2012
- Manuscript Received: 17 MAY 2012
Variants in the serine protease inhibitor Kazal type 1 (SPINK1) gene have been associated with pancreatitis in Miniature Schnauzers. Replication of the association in an independent population is necessary to determine if genetic screening for SPINK1 variants should be considered in clinical practice.
An association between the SPINK1 exonic variant c.74A > C and pancreatitis exists in Miniature Schnauzers. In addition, the variant is absent or rare in Standard Schnauzers, a related breed that is not reported to have an increased risk for pancreatitis.
Case-control study. Seventeen Miniature Schnauzers with pancreatitis (cases), 60 mature Miniature Schnauzers with no substantial history of gastrointestinal signs in their lifetime (controls), and 31 Standard Schnauzers of unknown pancreatitis status.
A PCR-RFLP assay was used to genotype dogs for the c.74A > C SPINK1 variant. Allele and genotype frequencies were reported for Schnauzers and compared between case and control Miniature Schnauzers.
The c.74A > C variant was the major allele in both Schnauzer breeds with a frequency of 0.77 in Miniatures and 0.55 in Standards. The allele and genotype frequencies were similar between Miniature Schnauzers with and without a history of pancreatitis and did not impart an increased risk for pancreatitis.
Conclusions and Clinical Importance
Genotyping a larger population of the Miniature Schnauzer breed than a previous study, along with a Standard Schnauzer cohort, demonstrated that the SPINK1 c.74A > C variant is a common polymorphism in the Schnauzer lineage. Furthermore, we were unable to confirm a relationship between the variant and clinically detectable pancreatitis in Miniature Schnauzers.