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J. Vet. Sci. 2019; 20(1): 63-71  https://doi.org/10.4142/jvs.2019.20.1.63
Genome-wide association study of degenerative mitral valve disease in Maltese dogs
Chang-Min Lee1, Doo-Won Song2, Woong-Bin Ro2, Min-Hee Kang2, Hee-Myung Park2,*
1Department of Veterinary Laboratory Medicine, College of Veterinary Medicine, Chonnam National University, Gwangju 61186, Korea
2Department of Veterinary Internal Medicine, College of Veterinary Medicine, Konkuk University, Seoul 05030, Korea
Correspondence to: *Tel:+82-2-450-4140; Fax: +82-2-450-4140; E-mail: parkhee@konkuk.ac.kr
Received: August 16, 2018; Revised: November 13, 2018; Accepted: November 30, 2018; Published online: January 31, 2019.
Genome-wide association study (GWAS) is a powerful tool for identifying the genetic causes of various diseases. This study was conducted to identify genomic variation in Maltese dog genomes associated with degenerative mitral valve disease (DMVD) development and to evaluate the association of each biological condition with DMVD in Maltese dogs. DNA was extracted from blood samples obtained from 48 Maltese dogs (32 with DMVD and 16 controls). Genome-wide single nucleotide polymorphism (SNP) genotyping was performed. The top 30 SNPs from each association of various conditions and genetic variations were mapped to their gene locations. A total of 173,662 loci were successfully genotyped, with an overall genotype completion rate of 99.41%. Quality control analysis excluded 46,610 of these SNPs. Manhattan plots were produced using allelic tests with various candidate clinical conditions. A significant peak of association was observed between mitral valve prolapse (MVP) and SNPs on chromosome 17. The present study revealed significant SNPs in several genes associated with cardiac function, including PDZ2, Armadillo repeat protein detected in velo-cardio-facial syndrome, catenin (cadherin-associated protein) alpha 3, low-density lipoprotein receptor class A domain containing protein 4, and sterile alpha motif domain containing protein 3. To our knowledge, this is the first study of a genetic predisposition to DMVD in Maltese dogs. Although only a limited number of cases were analyzed, these data could be the basis for further research on the genetic predisposition to MVP and DMVD in Maltese dogs.
Keywords: Dogs, Genome-wide association study, Mitral valve, Mitral valve prolapse

© 2019 The Korean Society of Veterinary Science.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.