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.     

Characterization of 114 insertion/deletion (INDEL) polymorphisms,and selection for a global INDEL panel for human identification

Bi-Allelic Insertions and Deletions (INDELs) are a powerful set of genetic markers for Human Identification (HID). They have certain desirable features, such as low mutation rates, no stutter, and potentially small amplicon sizes that could prove effective in some circumstances. In this study, we analyzed the distribution of 114 INDELs in four North American populations (Caucasian, African American, Southwest Hispanic, and Asian) to estimate their distribution in major global populations. Of the 114 INDELs a primary panel of 38 candidate markers was selected that met the criteria of (1) a minimum allele frequency of greater than 0.20 across the populations studied; (2) general concordance with Hardy–Weinberg equilibrium (HWE) expectations; (3) relatively low F_ST based on the major populations; (4) physical distance between markers greater than 40 Mbp; and (5) a lack of linkage disequilibria between syntenic markers. Additionally, another 11 supplemental markers were selected for an expanded panel of 49 markers which met the above criteria, with the exception that they are separated at least by 20 Mbp. The resulting panels had Random Match Probabilities that were at least 10⁻¹⁶ and 10⁻¹⁹, respectively, and combined F_ST values of approximately 0.02. Given these findings, these INDELs should be useful for HID.     

RvD1 treatment during primary infection modulates memory response increasing viral load during respiratory viral reinfection

Resolvin D1 (RvD1), which is biosynthesized from essential long-chain fatty acids, is involved in anti-inflammatory activity and modulation of T cell response. Memory CD8+ T cells are important for controlling tumor growth and viral infections. Exacerbated inflammation has been described as impairing memory CD8+ T cell differentiation. This study aimed to verify the effects of RvD1 on memory CD8+ T cells in vitro and in vivo in a respiratory virus infection model. Peripheral blood mononuclear cells were treated at different time points with RvD1 and stimulated with anti-CD3/anti-CD28 antibodies. Pre-treatment with RvD1 increases the expansion of memory CD8+ T cells. The IL-12 level, a cytokine described to control memory CD8+ T cells, was reduced with RvD1 pre-treatment. When the mTOR axis was inhibited, the IL-12 levels were restored. In a respiratory virus infection model, Balb/c mice were treated with RvD1 before infection or after 7 days after infection. RvD1 treatment after infection increased the frequency of memory CD8+ T cells in the lung expressing II4, II10, and Ifng. During reinfection, RvD1-treated and RSV-infected mice present a high viral load in the lung and lower antibody response in the serum. Our results show that RvD1 modulates the expansion and phenotype of memory CD8+ T cells but contributed to a non-protective response after RSV reinfection.     

The intracarotid etomidate Wada test: A 54-patient series

Hemispheric language dominance and isolated hemispheric memory function evaluation can be undertaken with the intracarotid injection of a general anesthetic agent (Wada test). Amobarbital has been traditionally used as the anesthetic agent, but legal and commercial constraints limit its use. We evaluated the use of etomidate as an alternative agent for the Wada test in a series of 54 consecutive adult patients with mesial temporal sclerosis undergoing presurgical evaluation for epilepsy surgery. Language lateralization and hemispheric memory function evaluation were successfully achieved in all cases. Side effects (somnolence, tremor, and dystonia) were infrequent, minor, and transient and did not require interruption of the procedure. Etomidate appears to be a safe and effective alternative agent to amobarbital in the Wada test. Similarly to the amobarbital Wada test, the ability of the etomidate Wada test to predict postoperative memory decline remains unclear.     

Thirty autosomal insertion-deletion polymorphisms analyzed using the Investigator® DIPplex Kit in populations from Iraq,Lithuania, Slovenia,and Turkey

Thirty autosomal insertion-deletion (InDel) polymorphisms were analyzed in four populations from Iraq, Lithuania, Slovenia, and Turkey using the commercial kit Investigator® DIPplex. Genotyping issues were encountered for five of the 30 InDels. They were most probably caused by polymorphisms located in the primer binding sites. Population and forensic parameters were calculated. No significant deviations from Hardy-Weinberg equilibrium or significant linkage disequilibrium were detected. The observed heterozygosities ranged from 33% to 61% depending on the marker and the population. The combined probability of exclusion for the 30 markers was 99.7% in all four populations and the matching probabilities were 1 in 3–4 × 10¹² individuals. The multidimensional scaling plot drawn from F_ST distances showed a good concordance between the relative position of the 15 populations included in the plot and their geographic locations.