Peer-reviewed veterinary case report
Genetic risk factors for Addison's disease differ by sex in Standard
By Treeful, Amy E et al.·Published in Immunogenetics·2019·Department of Veterinary Clinical Sciences, United States·View original on PubMed →
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Original publication title: DLA class II haplotypes show sex-specific associations with primary hypoadrenocorticism in Standard Poodle dogs.
- Species:
- dog
Plain-English summary
A group of Standard Poodles was studied to understand why some dogs develop Addison's disease, a serious condition affecting hormone production. Researchers found that certain genetic markers were linked to a higher risk of this disease, with specific haplotypes (gene combinations) showing different risks for male and female dogs. Males with one haplotype had about double the risk, while females with another haplotype had an even higher risk, although it was rare. These findings suggest that genetics play a significant role in Addison's disease in Standard Poodles, and further research could help identify at-risk dogs.
People also search for: Standard Poodle Addison's disease symptoms · Addison's disease treatment in dogs · genetic testing for Addison's disease in dogs
Abstract
Addison's disease (AD) is a life-threatening endocrine disorder that occurs spontaneously in both humans and dogs. Associations between MHC class II genes and AD have been shown in several human studies. Our goal was to identify MHC class II associations with AD in a large population of Standard Poodles, a breed highly predisposed to AD. We sequenced exon 2 of the class II genes DLA-DRB1, DLA-DQA1, and DLA-DQB1 in 110 affected and 101 unaffected Standard Poodles and tested for association with AD. After correcting for population structure, two haplotypes were found to confer risk of developing AD in a sex-specific manner: DLA-DRB1*015:01-DQA1*006:01-DQB1*023:01 in males (xp = 0.03, OR 2.1) and DLA-DRB1*009:01-DQA1*001:01-DQB1*008:01:1 in females (xp = 0.02, OR 8.43). Sex-specific associations have been previously described in human populations, but this is the first report of this kind in dogs. Consistent with findings in other studies, we found the DLA-DQA1*006:01 allele (xp = 0.04) to be associated with AD in males independent of haplotype. In females, the haplotype DLA-DRB1*009:01-DQA1*001:01-DQB1*008:01:1 confers a very high risk for developing AD, although its frequency was rare (9 of 124 females) in our study population. Further studies are warranted to validate the findings of this exploratory dataset and to assess the usefulness of this haplotype as a risk marker for AD in female Standard Poodles. Our results highlight the importance of evaluating MHC class II disease associations in large populations, and accounting for both biological sex and population structure.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30968193/