01248: Whole Genome Association Analyses for Cryptorchidism in Dogs

Grant Status: Closed

Grant Amount: $74,036
Max F. Rothschild, PhD; Iowa State University
January 1, 2010 - December 31, 2010


Breed(s): Siberian Husky
Research Program Area: Reproductive Conditions
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Project Summary

Cryptorchidism, or retained testicles, is one of the common congenital problems in dogs. The testes of cryptorchids are more prone to testicular cancer and infertility. Hence cryptorchids and animals carrying genes for cryptorchidism should be eliminated from the breeding population. Evidence exists to suggest that it appears to have a genetic cause. Therefore, the present study was performed to find the genetic differences on all chromosomes (genome wide) between 56 unrelated cryptorchid male dogs (cases) and 45 normal dogs (controls). More than 170,000 genetic differences called single nucleotide polymorphisms (SNPs) throughout the genome were tested between cases and controls using the Illumina CanineHD Genotyping BeadChip at GeneSeek, Lincoln, NE. Several advanced statistical methods were implemented to find the associated chromosomal regions and the genes within the regions for canine cryptorchidism. Our statistical association analyses for this defect indicated associated regions on chromosome 27 and chromosome 1. The associated region on chromosome 1 has a novel gene, whereas the associated region on chromosome 27 contained several genes including ATFl (Activating transcription factor 1), DIP2B (DIP2 disco-interacting protein 2 homolog B), MTTL7A (Methyltransferase like 7A) and ACVR1B (Activin receptor1B). Some of these genes (DIP 2B and MTTL 7A) were thought to be involved in gene imprinting (their effect differs if they receive the gene from the mother or the father). However, we performed some genetic imprinting tests which then excluded obvious imprinting phenomenon. By using a few other statistical methods, we identified the predominant association of an interesting combination of three genetic differences on chromosome 27 with the cryptorchidism in Siberian Huskies. Hence the present results are very exciting, but further studies using additional animals from this breed are needed to confirm the present results and testing other breeds is needed to establish a genetic test for all canine cryptorchidism.


Zhao, X., Onteru, S., Saatchi, M., Garrick, D., & Rothschild, M. (2014). A genome-wide association study for canine cryptorchidism in Siberian Huskies. Journal of Animal Breeding and Genetics, 131(3), 202–209. https://doi.org/10.1111/jbg.12064

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