title: DC-SIGN (CD209) gene promoter polymorphisms in a Brazilian population and their association with human T-cell lymphotropic virus type 1 infection.
abstract: This study evaluated four polymorphisms located in the DC-SIGN (CD209) gene promoter region (positions -336, -332 -201 and -139) in DNA samples from four Brazilian ethnic groups (Caucasians, Afro-Brazilian, Asians and Amerindians) to establish the population distribution of these single-nucleotide polymorphisms (SNPs) and correlated DC-SIGN polymorphisms and infection in samples from human T-cell lymphotropic virus type 1 (HTLV-1)-infected individuals. To identify CD209 SNPs, 452 bp of the CD209 promoter region were sequenced and the genotype and allelic frequencies were evaluated. This is the first study to show genetic polymorphism in the CD209 gene in distinct Brazilian ethnic groups with the distribution of allelic and genotypic frequency. The results showed that -336A and -139A SNPs were quite common in Asians and that the -201T allele was not observed in Caucasians, Asians or Amerindians. No significant differences were observed between individuals with HTLV-1 disease and asymptomatic patients. However, the -336A variant was more frequent in HTLV-1-infected patients [HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), 80 %; healthy asymptomatic HTLV-1 carriers, 90 %] than in the control group (70 %) [P=0.0197, odds ratio (OR)=2.511, 95 % confidence interval (CI)=1.218-5.179). In addition, the -139A allele was found to be associated with protection against HTLV-1 infection (P=0.0037, OR=0.3758, 95 % CI=0.1954-0.7229) when the HTLV-1-infected patients as a whole were compared with the healthy-control group. These observations suggest that the -139A allele may be associated with HTLV-1 infection, although no significant association was observed among asymptomatic and HAM/TSP patients. In conclusion, the variation observed in SNPs -336 and -139 indicates that this lectin may be of crucial importance in the susceptibility/transmission of HTLV-1 infections.
authors.affiliation: School of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Brazil.|Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Kashima
authors.affiliation: Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Evandra Strazza
authors.initials: ES
authors.lastname: Rodrigues
authors.affiliation: Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Rochele
authors.initials: R
authors.lastname: Azevedo
authors.affiliation: Division of Clinical Immunology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Erick
authors.initials: E
authors.lastname: da Cruz Castelli
authors.affiliation: Department of Chemistry, School of Philosophy, Sciences and Literature, University of São Paulo, Brazil.
authors.forename: Celso Teixeira
authors.initials: CT
authors.lastname: Mendes-Junior
authors.affiliation: Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: France Keiko Nascimento
authors.initials: FKN
authors.lastname: Yoshioka
authors.affiliation: Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Israel Tojal
authors.initials: IT
authors.lastname: da Silva
authors.affiliation: Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Osvaldo Massaiti
authors.initials: OM
authors.lastname: Takayanagui
authors.affiliation: Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.|Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil.
authors.forename: Dimas Tadeu
authors.initials: DT
authors.lastname: Covas
mesh_terms: D000328:Adult; D000368:Aged; D001938:Brazil / Q000453:epidemiology / Q000208:ethnology; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D015490:HTLV-I Infections / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D015368:Human T-lymphotropic virus 1 / Q000472:pathogenicity*; D006801:Humans; D037181:Lectins, C-Type / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D044469:Racial Groups / Q000145:classification / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult; D000099215:DC-Specific ICAM-3 Grabbing Nonintegrin
chemical_list: D015815:Cell Adhesion Molecules; D037181:Lectins, C-Type; D011956:Receptors, Cell Surface; D000099215:DC-Specific ICAM-3 Grabbing Nonintegrin