title: 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.affiliation: IBB/CGB-UTAD (Institute for Biotechnology and Bioengineering, Centre of Genomics and Biotechnology, University of Trás-os-Montes e Alto Douro), Quinta de Prados P.O. Box 1013, 5001-801 Vila Real, Portugal. franciscomorinha@hotmail.com
authors.forename: Francisco
authors.initials: F
authors.lastname: Morinha
authors.forename: Carlos
authors.initials: C
authors.lastname: Albuquerque
authors.forename: João
authors.initials: J
authors.lastname: Requicha
authors.forename: Isabel
authors.initials: I
authors.lastname: Dias
authors.forename: José
authors.initials: J
authors.lastname: Leitão
authors.forename: Ivo
authors.initials: I
authors.lastname: Gut
authors.forename: Henrique
authors.initials: H
authors.lastname: Guedes-Pinto
authors.forename: Carlos
authors.initials: C
authors.lastname: Viegas
authors.forename: Estela
authors.initials: E
authors.lastname: Bastos
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D016022:Case-Control Studies; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015850:Interleukin-6 / Q000235:genetics*; D023421:Models, Animal; D008969:Molecular Sequence Data; D010510:Periodontal Diseases / Q000235:genetics / Q000662:veterinary*; D020641:Polymorphism, Single Nucleotide; D020836:Protein Structure, Quaternary; D016415:Sequence Alignment; D014158:Transcription, Genetic
chemical_list: D015850:Interleukin-6