@article {8480, title = {Frequency of the CCR5-delta32 allele in Brazilian populations: A systematic literature review and meta-analysis.}, journal = {Infect Genet Evol}, volume = {43}, year = {2016}, month = {2016 Sep}, pages = {101-7}, abstract = {

The CCR5 is a chemokine receptor widely expressed by several immune cells that are engaged in inflammatory responses. Some populations have individuals exhibiting a 32bp deletion in the CCR5 gene (CCR5-delta32) that produces a truncated non-functional protein not expressed on the cell surface. This polymorphism, known to be associated with susceptibility to infectious and inflammatory diseases, such as osteomyelitis, pre-eclampsia, systemic lupus erythematous, juvenile idiopathic arthritis, rheumatoid arthritis and HIV/AIDS, is more commonly found in European populations with average frequency of 10\%. However, it is also possible to observe a significant frequency in other world populations, such as the Brazilian one. We performed a systematic review and meta-analysis of CCR5-delta32 genetic association studies in Brazilian populations throughout the country to estimate the frequency of this polymorphism. We also compared CCR5-delta32 frequencies across Brazilian regions. The systematic literature reviewed studies involving delta32 allele in Brazilian populations published from 1995 to 2015. Among the reviewed literature, 25 studies including 30 Brazilian populations distributed between the North, Northeast, South and Southeast regions were included in our meta-analysis. We observed an overall allelic frequency of 4\% (95\%-CI, 0.03-0.05), that was considered moderate and, notably, higher than some European populations, such as Cyprus (2.8\%), Italy (3\%) and Greece (2.4\%). Regarding the regional frequency comparisons between North-Northeast (N-NE) and South-Southeast (S-SE) regions, we observed an allelic frequency of 3\% (95\%-CI, 0.02-0.04) and 4\% (95\%-CI, 0.03-0.05), respectively. The populations from S-SE regions had a slightly higher CCR5-delta32 frequency than N-NE regions (OR=1.41, p=0.002). Although there are several studies about the CCR5-delta32 polymorphism and its effect on the immune response of some infectious diseases, this report is the first meta-analysis study that provides a descriptive study of the distribution of CCR5-delta32 allele in Brazilian population.

}, issn = {1567-7257}, doi = {10.1016/j.meegid.2016.05.024}, author = {Silva-Carvalho, Wlisses Henrique Veloso and De Moura, Ronald Rodrigues and Coelho, Ant{\^o}nio Victor Campos and Crovella, Sergio and Guimar{\~a}es, Rafael Lima} } @article {1747, title = {Frequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil.}, journal = {Clinics (Sao Paulo)}, volume = {66}, year = {2011}, month = {2011}, pages = {227-31}, abstract = {

AIMS: The aim of this study was to evaluate the frequencies of the HLA genotypes DQ2 and DQ8 and the alleles A1*05, A1*0201, B1*0201 and B1*0302 in individuals with celiac disease in Recife, northeastern Brazil.

METHODS: HLA DQ2 and DQ8 genotyping was performed for 73 individuals with celiac disease and 126 first-degree relatives with negative transglutaminase serology. The alleles DQA1*05, DQA1*0201, DQB1*02 and DQB1*0302 were identified by sequencing using specific primers and the EU-DQ kit from the Eurospital Laboratory, Trieste, Italy and double-checked by the All Set SPP kit (Dynal).

RESULTS: Among the 73 cases, 50 (68.5\%) had the genotype DQ2, 13 (17.8\%) had DQ8, 5 (6.8\%) had DQ2 and DQ8, and 5 did not have any of these genotypes. Among the 5 negative individuals, four had the B1*02 allele and one did not have any of the alleles studied. B1*02 was the most frequent allele in both groups (94\% in the patients and 89\% in the control relatives).

CONCLUSIONS: In this study, celiac disease was associated with the genotypes DQ2 and DQ8. DQ2 predominated, but the distribution of the frequencies was different from what has been found in European populations and was closer to what has been found in the Americas. The high frequencies of the HLA genotypes DQ2 and DQ8 that were found in first-degree relatives would make it difficult to use these HLA genotypes for routine diagnosis of celiac disease in this group.

}, keywords = {Adolescent, Adult, Brazil, Celiac Disease, Chi-Square Distribution, Child, Child, Preschool, Cross-Sectional Studies, Europe, Family, Female, Gene Frequency, Genetic Predisposition to Disease, HLA-DQ Antigens, Humans, Infant, Male, Middle Aged, Young Adult}, issn = {1980-5322}, author = {Castro-Antunes, Margarida Maria and Crovella, Sergio and Brand{\~a}o, Lucas Andr{\'e} Cavalcanti and Guimar{\~a}es, Rafael Lima and Motta, Maria Eug{\^e}nia Farias Almeida and Silva, Giselia Alves Pontes da} }