@article {8521, title = {TRIM5 gene polymorphisms in HIV-1-infected patients and healthy controls from Northeastern Brazil.}, journal = {Immunol Res}, year = {2016}, month = {2016 Jul 8}, abstract = {

Humans show heterogeneity in vulnerability to HIV-1 infection, partially under control of genes involved in host immunity and virus replication. TRIM5α protein has restriction activity against replication of many retroviruses. Human TRIM5 gene single nucleotide polymorphisms have been reported as involved in susceptibility to HIV-1 infection. We recruited 213 HIV-1-positive patients and 234 healthy uninfected controls from Northeast Brazil; two non-synonymous variants at exon 2, rs3740996 (H43Y) and rs10838525 (R136Q), and one regulatory polymorphism (rs16934386) at 5{\textquoteright}UTR region of TRIM5 were analyzed. The R136Q variation presented significant differences between HIV-1-positive patients and healthy controls. The 136Q allele and the 136QQ genotype were more frequent in healthy controls (32.7 and 10.2~\%, respectively) than in HIV-1-positive patients (136Q allele: 24.4~\%; OR 0.66; CI 95~\% 0.49-0.90; p value~=~0.008/136QQ genotype: 4.2~\%; OR 0.33; CI 95~\% 0.13-0.79, p~=~0.008) also after adjusting for age and sex. We also stratified our findings according to the presence of CCR5Δ32 variation, but the results remained the same. We observed that rs10838525 (R136Q) and rs3740996 (H43Y) were in linkage disequilibrium (D{\textquoteright}~=~0.71), forming four possible haplotypes. The H43-136Q haplotype was significantly more frequent in healthy controls (28.2~\%) than in HIV-positive patients (21.4~\%; OR 0.69; CI 95~\% 0.50-0.96; p~=~0.022). An increased frequency of allele (136Q) and genotype (136QQ) of the non-synonymous rs10838525 (R136Q) variant and the haplotype (43H-136Q) was observed among healthy controls individuals. Being aware of the limitation of this study (unavailability of exposed but uninfected individuals), we hypothesize a potential role for TRIM5 variations in the protection against HIV-1 infection.

}, issn = {1559-0755}, doi = {10.1007/s12026-016-8810-1}, author = {Celerino da Silva, Ronaldo and Coelho, Ant{\^o}nio Victor Campos and Arraes, Luiz Claudio and Brand{\~a}o, Lucas Andr{\'e} Cavalcanti and Crovella, Sergio and Guimar{\~a}es, Rafael Lima} } @article {7683, title = {Lactotransferrin gene functional polymorphisms do not influence susceptibility to human immunodeficiency virus-1 mother-to-child transmission in different ethnic groups.}, journal = {Mem Inst Oswaldo Cruz}, volume = {110}, year = {2015}, month = {2015 Apr}, pages = {222-9}, abstract = {

Lactotransferrin, also known as lactoferrin, is an iron binding glycoprotein that displays antiviral activity against many different infectious agents, including human immunodeficiency virus (HIV)-1. Lactotransferrin is present in the breast milk and in the female genitourinary mucosa and it has been hypothesised as a possible candidate to prevent mother-to-child HIV-1 transmission. To verify if two functional polymorphisms, Thr29Ala and Arg47Lys, in the lactotransferrin encoding gene (LTF) could affect HIV-1 infection and vertical transmission, a preliminary association study was performed in 238 HIV-1 positive and 99 HIV-1 negative children from Brazil, Italy, Africa and India. No statistically significant association for the Thr29Ala and Arg47Lys LTF polymorphisms and HIV-1 susceptibility in the studied populations was found. Additionally LTF polymorphisms frequencies were compared between the four different ethnic groups.

}, keywords = {Acquired Immunodeficiency Syndrome, Adolescent, Brazil, Child, Cohort Studies, Ethnic Groups, Female, Gene Frequency, Genetic Predisposition to Disease, Genotyping Techniques, HIV-1, Humans, India, Infant, Newborn, Infectious Disease Transmission, Vertical, Italy, Lactoferrin, Male, Polymorphism, Single Nucleotide, Real-Time Polymerase Chain Reaction, Retrospective Studies, Zimbabwe}, issn = {1678-8060}, doi = {10.1590/0074-02760140447}, author = {Zupin, Luisa and Polesello, Vania and Coelho, Ant{\^o}nio Victor Campos and Boniotto, Michele and Arraes, Luiz Claudio and Segat, Ludovica and Crovella, Sergio} } @article {1963, title = {Polymorphisms in DC-SIGN and L-SIGN genes are associated with HIV-1 vertical transmission in a Northeastern Brazilian population.}, journal = {Hum Immunol}, volume = {73}, year = {2012}, month = {2012 Nov}, pages = {1159-65}, abstract = {

DC-SIGN and L-SIGN are receptors expressed on specialized macrophages in decidua, (Hofbauer and placental capillary endothelial cells), known to interact with several pathogens, including HIV-1. To disclose the possible involvement of these molecules in the susceptibility to HIV vertical transmission, we analyzed DC-SIGN and L-SIGN gene single nucleotide polymorphisms (SNPs) in 192 HIV-1 positive children and 58 HIV-1 negative children all born to HIV-1 positive mothers, as well as 96 healthy uninfected children not exposed to HIV-1, all from Northeast Brazil. The frequency of three SNPs in the DC-SIGN promoter (-139G>A, -201G>T and -336A>G) were significantly different when comparing HIV positive children with HIV-1 exposed uninfected children, indicating an association with susceptibility to HIV-1 vertical transmission. This genetic association suggests that DC-SIGN molecule may play a role in susceptibility to HIV-1 infection through vertical transmission.

}, keywords = {Alleles, Brazil, Cell Adhesion Molecules, Child, Child, Preschool, Exons, Female, Gene Frequency, Genotype, HIV Infections, HIV-1, Humans, Infectious Disease Transmission, Vertical, Lectins, C-Type, Male, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Receptors, Cell Surface, Tandem Repeat Sequences}, issn = {1879-1166}, doi = {10.1016/j.humimm.2012.07.338}, author = {da Silva, Ronaldo Celerino and Segat, Ludovica and Zanin, Valentina and Arraes, Luiz Claudio and Crovella, Sergio} } @article {1821, title = {Frequency of HLA B*5701 allele carriers in abacavir treated-HIV infected patients and controls from northeastern Brazil.}, journal = {Clinics (Sao Paulo)}, volume = {66}, year = {2011}, month = {2011}, pages = {1485-8}, keywords = {Adolescent, Adult, Anti-HIV Agents, Brazil, Case-Control Studies, Dideoxynucleosides, Drug Hypersensitivity, Female, Gene Frequency, Genotype, HIV Infections, HLA-B Antigens, Humans, Male, Middle Aged, Real-Time Polymerase Chain Reaction, Young Adult}, issn = {1980-5322}, author = {Crovella, Sergio and Biller, Lara and Santos, Sergio and Salustiano, Ana and Brand{\~a}o, Lucas and Guimar{\~a}es, Rafael and Segat, Ludovica and Lima Filho, Jose Luiz de and Arraes, Luiz Claudio} }