Detection and characterization of interleukin-6 gene variants in Canis familiaris: association studies with periodontal disease.

Abstract

Periodontal disease (PD) is the most common inflammatory disease of the oral cavity of domestic carnivores. In Human Medicine molecular genetics research showed that several genes play a role in the predisposition and progression of this complex disease, primarily through the regulation of inflammatory mediators, but the exactly mechanisms are poorly understood. This study aims to contribute to the characterization of the genetic basis of PD in the dog, a classically accepted model in Periodontology. We searched for genetic variations in the interleukin-6 (IL6) gene, in order to verify its association with PD in a case-control study including 25 dogs in the PD case group and 45 dogs in the control group. We indentified and characterized three new genetic variations in IL6 gene. No statistically significant differences were detected between the control and PD cases groups. Our results do not support an evidence for a major role contribution of these variants in the susceptibility to PD in the analyzed population. Nevertheless, the sequence variant I/5_g.105G>A leads to an amino acid change (arginine to glutamine) and was predicted to be possibly damaging to the IL6 protein. A larger cohort and functional studies would be of extreme importance in a near future to understand the possible role of IL6 variants in this disease.

• Authors: Francisco Morinha, Carlos Albuquerque, João Requicha, Isabel Dias, José Leitão, Ivo Gut, Henrique Guedes-Pinto, Carlos Viegas, Estela Bastos
• Journal: Gene (Gene) Vol. 485 Issue 2 Pg. 139-45 (Oct 10 2011) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 21708229 (Publication Type: Journal Article)
• Copyright: Copyright © 2011 Elsevier B.V. All rights reserved.

Chemical References

• Interleukin-6

Topics

• Amino Acid Sequence
• Animals
• Base Sequence
• Case-Control Studies
• Disease Models, Animal
• Dog Diseases (genetics)
• Dogs
• Genetic Predisposition to Disease
• Genetic Variation
• Interleukin-6 (genetics)
• Models, Animal
• Molecular Sequence Data
• Periodontal Diseases (genetics, veterinary)
• Polymorphism, Single Nucleotide
• Protein Structure, Quaternary
• Sequence Alignment
• Transcription, Genetic