title: Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil.
abstract: Mapping single nucleotide polymorphisms (SNPs) in genes potentially involved in immune responses may help understand the pathophysiology of infectious diseases in specific geographical regions. In this context, we have aimed to analyze the frequency of immunogenetic markers, focusing on genes CD209 (SNP -336A/G), FCγRIIa (SNP -131H/R), TNF-α (SNP -308A/G) and VDR (SNP Taq I) in two populations of the Espirito Santo State (ES), Brazil: general and Pomeranian populations. Peripheral blood genomic DNA was extracted from one hundred healthy individuals of the general population and from 59 Pomeranians. Polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). SNP genotype frequencies were in Hardy-Weinberg Equilibrium. There was no statistically significant difference in allelic and genotypic distributions between the two populations studied. Statistically significant differences were observed for SNP genotype distribution in genes CD209, TNF-α and VDR when comparing the ES populations with other Brazilian populations. This is the first report of CD209, FcγRIIa, TNF-α and VDR allelic frequencies for the general and Pomeranian populations of ES.
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Av. Marechal Campos, 1468, Campus de Maruípe, Vitória, ES, 29040-090, Brazil.
authors.forename: Raquel Spinassé
authors.initials: RS
authors.lastname: Dettogni
authors.forename: Ricardo Tristão
authors.initials: RT
authors.lastname: Sá
authors.forename: Thaís Tristão
authors.initials: TT
authors.lastname: Tovar
authors.forename: Iúri Drumond
authors.initials: ID
authors.lastname: Louro
mesh_terms: D001938:Brazil; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D005796:Genes / Q000235:genetics / Q000276:immunology*; D005819:Genetic Markers / Q000276:immunology; D014644:Genetic Variation; D005859:Germany, East / Q000208:ethnology; D006801:Humans; D055261:Immunogenetic Phenomena / Q000235:genetics*; D011044:Poland / Q000208:ethnology; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D017931:DNA Primers; D005819:Genetic Markers