Investigation of single‐nucleotide polymorphisms in the NR3C1a glucocorticoid receptor gene in Cocker Spaniels with primary immune thrombocytopenia. (10th June 2022)

• Record Type: Journal Article
• Authors: Tayler, Sarah; Hazuchova, Katarina; Riddle, Anna; Swann, James W.; Glanemann, Barbara
• Is Part Of: Journal of veterinary internal medicine. Volume 36:Number 4(2022)
• Page Start: 1281
• Page End: 1286
• Publication Date: 2022-06-10
• Subjects: canine -- corticosteroids -- genetics -- immune‐mediated -- platelet; Veterinary medicine -- Periodicals; 636.0896
• DOI: 10.1111/jvim.16468
• Languages: English
• ISSNs: 0891-6640

Abstract

Abstract: Background: In dogs, 6 single‐nucleotide polymorphisms (SNPs) have been described in the glucocorticoid receptor gene NR3C1a, 2 of which were nonsynonymous SNPs in exons 2 and 8. The clinical importance of these SNPs is unknown. Objectives: To investigate whether SNPs in NR3C1a are associated with clinical outcome in Cocker Spaniels with primary immune thrombocytopenia (pITP). Animals: Twenty‐four Cocker Spaniels with pITP presented to a referral center. Dogs were classified as slow (n = 11) or fast responders (n = 12) based on time required after initiating glucocorticoid treatment to achieve a platelet count >70 000/μL. Methods: Deoxyribonucleic acid was extracted from stored blood samples before amplification by PCR and sequencing of exons 2 and 8 of NR3C1a . Associations between genotype and clinical response variables were investigated. Results: Neither previously identified nonsynonymous SNPs were identified. The synonymous SNP NR3C1a:c.798C>T in exon 2 was found at an increased prevalence compared to a previous report. No difference was found in prevalence of any genotype at NR3C1a:c.798C>T between fast and slow responders ( P = .70). Conclusions and Clinical Importance: None of the previously reported nonsynonymous SNPs in exons 2 and 8 of the NR3C1a gene were detected in our cohort of Cocker Spaniels with pITP. The synonymous SNP NR3C1a:c.798C>T in exon 2 was reported at a higher frequency than previously, but was not associated with outcome measures that estimated responsiveness to glucocorticoids.