@article {8296, title = {Chemokines SNPs in HIV-1+ Patients and Healthy Controls from Northeast Brazil: Association with Protection against HIV-1 Infection.}, journal = {Curr HIV Res}, volume = {14}, year = {2016}, month = {2016}, pages = {340-5}, abstract = {

BACKGROUND: HIV-1 virus is known to infect the host mainly through CD4+ T-lymphocyte cells, by interactions among the viral envelope proteins, CD4 receptor and HIV-1 coreceptors, such as chemokines receptors. Variations in the genes encoding HIV-1 coreceptors and their natural ligands have been shown to modify HIV-1 infection susceptibility and disease progression.

METHODS AND RESULTS: We analysed the distribution of SNPs in chemokines (CCL3, CCL4, CCL5, CXCL12) and chemokine receptor (CXCR6) genes, in 268 HIV-1 infected patients (HIV-1+) and 221 healthy controls from Northeast Brazil, and their possible connection with susceptibility to HIV-1 infection. The genotyping were performed through allele specific fluorogenic probes using real time PCR. We observed that the T alleles and AT genotype of rs1719153 CCL4 SNP were more frequent in healthy controls (19.8\% and 35.0\%, respectively) than in HIV-1+ patients (T allele: 14.1\%; OR=0.67; 95\%CI=0.47-0.95; p-value=0.020; and AT genotype: 24.4\%; OR=0.61; 95\%CI=0.40- 0.93; p-value=0.021) after correcting for age and sex. The rs1719134 (CCL3) and rs1719153 (CCL4) SNPs presented linkage disequilibrium (D{\textquoteright}=0.83). The AT haplotype frequency was increased in healthy controls (17.3\%) in relation to HIV-1+ patients (11.0\%; OR=0.62; 95\%CI=0.42-0.93; p-value=0.020).

CONCLUSION: Since our results revealed an increased frequency of alleles and genotypes of CCL3/CCL4 SNPs and haplotype (CCL3-CCL4) among healthy controls, we suggest that these variations might have a potential protective role against HIV-1 infection.

}, issn = {1873-4251}, author = {Celerino da Silva, Ronaldo and Victor Campos Coelho, Antonio and Cl{\'a}udio Arraes, Luiz and Andr{\'e} Cavalcanti Brand{\~a}o, Lucas and Lima Guimar{\~a}es, Rafael and Crovella, Sergio} } @article {8320, title = {DEFB1 gene polymorphisms and tuberculosis in a Northeastern Brazilian population.}, journal = {Braz J Microbiol}, volume = {47}, year = {2016}, month = {2016 Apr-Jun}, pages = {389-93}, abstract = {

β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms -52G>A (rs1799946), -44C>G (rs1800972) and -20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50).

}, issn = {1678-4405}, doi = {10.1016/j.bjm.2015.09.001}, author = {Celerino da Silva, Ronaldo and da Cruz, Heidi Lacerda Alves and Brand{\~a}o, Lucas Andr{\'e} Cavalcanti and Guimar{\~a}es, Rafael Lima and Montenegro, Lilian Maria Lapa and Schindler, Haiana Charifker and Segat, Ludovica and Crovella, Sergio} } @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} }