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Association between HLA-G 3UTR 14-bp polymorphism and HIV vertical transmission in Brazilian children

Fabris, Annalisaa; Catamo, Eulaliaa; Segat, Ludovicaa; Morgutti, Marcelloa; Claudio Arraes, Luizb; de Lima-Filho, José Lc; Crovella, Sergioa,d

doi: 10.1097/QAD.0b013e32832027bf
Basic Science

Objectives: The aim of our study was to verify the possible association between an HLA-G 14-bp deletion/insertion polymorphism and perinatal HIV transmission in Brazilian children.

Design: We analyzed the 14-bp deletion/insertion polymorphisms in seronegative (i.e., exposed uninfected, N = 71) and seropositive (exposed infected, N = 175) Brazilian children born from HIV-positive mothers and in healthy controls (n = 175).

Methods: HLA-G 14-bp deletion/insertion polymorphism (rs16375) was detected by PCR amplification of the target sequence followed by agarose gel electrophoresis. All the samples were also analyzed by direct sequencing in order to validate the genotyping results.

Results: HIV-exposed uninfected children showed significant differences in their allele and genotype frequencies of the HLA-G 14-bp polymorphism when compared to both seropositive children and healthy controls. The 14-bp-deleted (D) allele was more frequent in exposed uninfected children (79%) than in healthy controls (60%) and HIV-positive children (58%); the higher percentage of the D allele found in the exposed uninfected children with respect to HIV-positive individuals was significantly associated with a reduced risk of vertical transmission. This effect was ascribable to the presence of the D/D homozygous genotype.

Conclusion: Our findings support the possible role for the HLA-G 14-bp deletion/insertion polymorphism in the HIV vertical transmission in Brazilian children. The presence of the D allele and D/D genotype is associated with a protective effect toward HIV perinatal infection.

aGenetic Service, IRCCS Burlo Garofolo, Trieste, Italy

bInstituto Materno Infantil Prof. Fernando Figueira (IMIP), Brazil

cLaboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Brazil

dDepartment of Genetics, Federal University of Pernambuco (UFPE), Recife, Brazil.

Received 7 August, 2008

Revised 13 October, 2008

Accepted 21 October, 2008

Correspondence to Dr Ludovica Segat, Genetic Service, IRCCS Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, Italy. Tel: +39 040 3785539; fax: +39 040 3785540; e-mail:

© 2009 Lippincott Williams & Wilkins, Inc.