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Tumor necrosis factor region polymorphisms are associated with AIDS and with cytomegalovirus retinitis

Deghaide, Neifi HSa; Rodrigues, Maria de LVb; Castelli, Erick Ca; Mendes-Junior, Celso Tc; Figueiredo, José FCd; Donadi, Eduardo Aa

doi: 10.1097/QAD.0b013e32832e5591
Basic Science

Background: The tumor necrosis factor (TNF) gene is located within the highly polymorphic major histocompatibility complex region, exhibiting the -308 GA promoter region polymorphism and six microsatellites (TNFa–f) spanning the region nearby the TNF locus.

Objective: In the present study, we evaluated the frequency of -308 GA and TNFa-e polymorphisms and respective haplotypes (in chromosomal sequence: TNFd-TNFe-308GA-TNFc-TNFa-TNFb), in 222 patients with AIDS, 52 of whom exhibited cytomegalovirus retinitis, and in 202 healthy HIV-negative individuals.

Method: TNF microsatellite and single nucleotide polymorphism typings were performed by PCR followed by polyacrylamide gel electrophoresis.

Results: The TNF-308A allele and the 4-3-G-2-7-1 haplotype were associated with susceptibility to AIDS, whereas the TNFb4 allele and the 3-3-G-1-11-4 haplotype were associated with protection against AIDS development. The TNFc2 allele and the 4-1-G-2-2-1 haplotype, which contains the TNFc2 allele, were associated with cytomegalovirus retinitis.

Conclusion: This study highlights that polymorphic sites spanning the region nearby the TNF locus are associated with AIDS per se and with cytomegalovirus retinitis in AIDS patients.

aDivision of Clinical Immunology, Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil

bDepartment of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil

cDepartamento de Química, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901, Ribeirão Preto-SP, Brazil

dDivision of Infectious Diseases, Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.

Received 22 December, 2008

Revised 4 May, 2009

Accepted 19 May, 2009

Correspondence to Dr Neifi H.S. Deghaide, Laboratório de Imunologia Molecular Bloco G 2°Andar, Divisão de Imunologia Clínica, Departamento de Clínica Médica, Hospital de Clínicas da Faculdade de Medicina de Ribeirão Preto-USP, Avenida Bandeirantes 3900, Ribeirão Preto 14048-900, São Paulo, Brazil. Tel: +55 16 3602 2566; fax: +55 16 36336695; e-mail: n.deghaide@bol.com.br

© 2009 Lippincott Williams & Wilkins, Inc.