4.5 Article

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

Journal

MOLECULAR BIOLOGY REPORTS
Volume 40, Issue 8, Pages 4843-4849

Publisher

SPRINGER
DOI: 10.1007/s11033-013-2582-7

Keywords

Polymorphisms; Immune system; Infectious diseases; Espirito Santo-Brazil

Funding

  1. Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
  2. Fundacao de Amparo a Pesquisa do Espirito Santo (FAPES)
  3. FAPES

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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), FC gamma RIIa (SNP -131H/R), TNF-alpha (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-alpha and VDR when comparing the ES populations with other Brazilian populations. This is the first report of CD209, Fc gamma RIIa, TNF-alpha and VDR allelic frequencies for the general and Pomeranian populations of ES.

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