Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160750 (trait)

Single-gene trait/disorder: unknown

Disease-related: yes

Species-specific description: Opmeer et al. (2025): "Polymyositis in the breed of ... Kooiker dogs is an autoimmune mediated inflammatory disease of skeletal muscles [with familial occurence]."

Mapping: Opmeer et al. (2025) "A genome-wide association study of 33 [Dutch Kooiker dog] cases and 106 controls indicated the involvement of a region on chromosome CFA19 (p = 4.7*10⁻¹⁰). Haplotype analysis indicated that the cases shared a 2.9 Mb region in the homozygous or the heterozygous state."

Markers: Opmeer et al. (20245): "Next Generation Sequencing of genomic DNA implicated a deletion of a 39 kb DNA fragment, located 10 kb upstream of the neighbouring interleukin genes IL21 and IL2. The frequency of the deletion allele was 0.81 in the available cases and 0.25 in a random sample of the Kooiker dog breed. Leukocytes of affected, untreated dogs that were homozygous for the deletion overexpress IL21 and IL2 upon stimulation with mitogens. We suggest that elements located 10–49 kb upstream of the IL21/IL2 locus play an important role in the regulation of the canine genes and that deletion of these elements is a risk factor for polymyositis in Kooiker dogs."

Breeds: Nederlandse Kooikerhondje (Dog) (VBO_0200932), Vizsla (Dog) (VBO_0201389).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).