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Published online ahead of print on 4 March 2009 as doi:10.1099/vir.0.008367-0
Journal of General Virology 2009;90:927.

A more recent version of this article appeared on April 1, 2009 J Gen Virol (2009), DOI 10.1099/vir.0.008367-0
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DC-SIGN (CD209) gene promoter polymorphisms in a Brazilian population and their association with HTLV-1 infection

Simone Kashima1,6, Evandra Strazza Rodrigues1, Rochele Azevedo1, Erick da Cruz Castelli2, Celso Teixeira Mendes-Junior3, France Keiko Nascimento Yoshioka4, Israel Tojal da Silva4, Osvaldo Massaiti Takayanagui5 and Dimas Tadeu Covas4

1 Regional Blood Center of Ribeirão Preto, São Paulo, Brazil;
2 Division of Clinical Immunology, Faculty of Medicine of Ribeirão Preto;
3 Department of Chemistry, School of Philosophy, Sciences and Literature;
4 Regional Blood Center of Ribeirão Preto, University of São Paulo, Brazil;
5 Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil

6 E-mail: skashima{at}hemocentro.fmrp.usp.br

We evaluated four polymorphisms located in the DC-SIGN (CD209) gene promoter region (-336, -332 -201, -139 positions) in DNA samples from four Brazilian ethnic groups (Caucasians, Afro-Brazilian, Asians and Amerindians) to establish the population distribution of these SNPs and correlated DC-SIGN polymorphisms and infection in samples from HTLV-1-infected individuals. To identify CD209 SNPs, we sequenced 452 bp of the CD209 promoter region and evaluated the genotype and allelic frequencies. 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. Our results showed that -336A and -139A SNPs were quite common in Asians and 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 (HAM/TSP 80%, HAC 90%) than in the control group (70%) (p = 0.0197, OR = 2.511, 95%CI = 1.218 to 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 to 0.7229) when the HTLV-1-infected patients as a whole were compared to 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.

Received 31 October 2008; accepted 2 January 2009.




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