title: Slc11a1 (formerly Nramp1) and susceptibility to canine visceral leishmaniasis.
abstract: Visceral leishmaniasis is the most important zoonosis in Europe and it is caused by Leishmania infantum, a protozoan intracellular parasite. Canine visceral leishmaniasis (CVL) is endemic in the Mediterranean basin, Middle East, and South America, and is emerging within non endemic areas such as the United Kingdom and North America. We have analyzed 24 polymorphisms in the canine Slc11a1 (formerly NRAMP1) gene: 19 new polymorphisms characterized by direct sequencing from 40 dogs of different breeds and five polymorphisms previously described. Data analysis in a case-control study including 164 dogs of 19 different breeds revealed that two of the 24 polymorphisms were associated with increased risk for CVL: one intronic single nucleotide polymorphism (SNP) (A4549G in intron 6: odds ratio (OR) = 6.78, P = 0.001) and one silent SNP in exon 8 (C4859T: OR = 13.44, P = 0.004). In silico analysis of the significant SNP revealed that SNP in the promoter region affect putative transcription binding sites and SNP C4859T in exon 8 disrupts a putative exonic splicing enhancer (ESE). These results corroborate that Slc11a1 polymorphisms are associated with increased risk for CVL.
authors.affiliation: Veterinary Molecular Genetics Service, Department of Animal and Food Science, Veterinary Faculty, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain. elisenda.sanchez@uab.cat
authors.forename: Elisenda
authors.initials: E
authors.lastname: Sanchez-Robert
authors.forename: Laura
authors.initials: L
authors.lastname: Altet
authors.forename: Mireia
authors.initials: M
authors.lastname: Utzet-Sadurni
authors.forename: Urs
authors.initials: U
authors.lastname: Giger
authors.forename: Armand
authors.initials: A
authors.lastname: Sanchez
authors.forename: Olga
authors.initials: O
authors.lastname: Francino
mesh_terms: D000818:Animals; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D017931:DNA Primers; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D020022:Genetic Predisposition to Disease; D018314:Leishmania infantum; D007898:Leishmaniasis, Visceral / Q000235:genetics / Q000662:veterinary*; D010375:Pedigree; D010414:Pennsylvania; D016133:Polymerase Chain Reaction / Q000662:veterinary; D020641:Polymorphism, Single Nucleotide; D013030:Spain; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D017931:DNA Primers; D000099173:Natural Resistance-associated Macrophage Protein 1