HLA-DRB1 and -DQB1 alleles in the Brazilian population of the northeastern region of the state of São Paulo

The HLA-DRB1 and -DQB1 alleles in 161 healthy unrelated individuals, including Caucasians, Blacks and Mulattos (mixed Caucasian and Black), from the Northeastern region of the state of S?o Paulo, Brazil were analysed. The 36 different DRB1 alleles detected included not only common Caucasian alleles, but also DRB1*0411, 0807 and 1402, typical of Amerindians, and DRB1*0302, 1503, and 0804, typical of African American Blacks.     

Genetic association of the PERIOD3 (PER3) Clock gene with extreme obesity

BackgroundObesity has reached epidemic proportions worldwide, affecting life quality and span. Susceptibility to obesity is partly mediated by genetic differences. Indeed, several genes from the clock gene family have already been shown to be intimately associated with obesity in diverse ethnic groups. In the present study, an association between BMI and the rs707467, rs228697 and rs228729 PER3 (Period Circadian Clock 3) polymorphisms in subjects with class II (BMI ≥ 35.0–39.9 kg/m²) and class III obesity (>40 kg/m², extreme obesity) were carried out using TaqMan real-time PCR. Overall, 259 Brazilian adults were genotyped, of whom 122 had class II or III obesity (BMI ≥ 35.0 kg/m²) and 137 were controls having normal weight (BMI > 18.5 and <24.9 kg/m²).ResultsPER3 tag SNP (rs228729) shows a significant association with extreme obesity (1000 permutation p = 0.03 and p = 0.04), for genotype and allele frequency respectively) and a haplotype among the three assessed SNPs (alleles G/T/A, rs228697, rs228729, and rs707467, respectively, 1000 permutation p = 0.03) was significantly more prevalent in the group with obesity.ConclusionThis exploratory association study suggests that PER3 rs228729 may be associated with extreme obesity in Brazilian adults, however, replication is needed.     

Genomic Analysis of Novel Poxvirus Brazilian Porcupinepox Virus,Brazil, 2019

We obtained the complete sequence of a novel poxvirus, tentatively named Brazilian porcupinepox virus, from a wild porcupine (Coendou prehensilis) in Brazil that had skin and internal lesions characteristic of poxvirus infection. The impact of this lethal poxvirus on the survival of this species and its potential zoonotic importance remain to be investigated.     

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.     

The association between periodontitis and interleukin-6 genetic polymorphism -174 G/C: A meta-analysis

BackgroundTo evaluate the association between periodontitis and interleukin-6 (IL6) -174 G/C polymorphism by data synthesis and subgroup analysis.MethodsEighteen case-control studies from 16 articles with 1616 cases and 1511 controls were included in this meta-analysis by searching the public databases including PubMed, Embase and Web of Science databases by Jun 2018. Data syntheses were performed using Stata 9.0.ResultsThere were inverse associations of IL6 -174 G/C polymorphism with both general periodontitis and overall periodontitis. In CC vs. GG inheritance model, whose effect was the most profound, the genetic polymorphism reduced the risks of general and overall periodontitis by 60% (95% CI = 0.25-0.65, P < 0.01) and 31% (95% CI = 0.38-0.97, P = 0.04) respectively. In addition, the G/C variation was likely to be protective against moderate (allele C vs. allele G: OR = 0.61, 95% CI = 0.43-0.87, P = 0.01; CC + GC vs. GG: OR = 0.57, 95% CI = 0.37-0.89, P = 0.01) and severe periodontitis (allele C vs. allele G: OR = 0.58, 95% CI = 0.41-0.84, P < 0.01; CC vs. GG: OR = 0.33, 95% CI = 0.13-0.82, P = 0.02) exclusively in Brazilian people. No reliable evidence was found regarding chronic periodontitis.ConclusionThis meta-analysis suggests that IL6 -174 G/C polymorphism may be negatively associated with risk of periodontitis.     

Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the β-globin gene that leads to the replacement of valine by methionine in the corresponding position of the β-globin chain. The methionine residue is subsequently modified to aspartic acid [β67(E11)Val-Met→Asp], possibly by autoxidation mechanisms. This substitution prevents normal non-polar binding of Val67 to the heme group, resulting in molecular instability and severe hemolysis. We identified Hb Bristol-Alesha (in the heterozygous state), as the cause of severe congenital hemolytic anemia in an 11-month-old girl of mixed (native Indian and European) ethnic origin from the Midwestern region of Brazil, whose parents were clinically and hematologically normal. The mutation on the β-globin gene was found to have been coinherited with the α212 patchwork allele.