HLA-G genetic diversity and evolutive aspects in worldwide populations.

HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents substantial nucleotide variability in its regulatory regions. However, it encodes a limited number of proteins compared to classical HLA class I genes.

Association of TNFRSF1A and IFNLR1 Gene Polymorphisms with the Risk of Developing Breast Cancer and Clinical Pathologic Features.

Several genes have been associated with breast cancer (BC) susceptibility. The tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), and interferon lambda receptor 1 (IFNLR1) genes encode receptors that mediate the action of inflammatory cytokines. Previous studies have demonstrated the association of the variants rs1800693 (TNFRSF1A) and rs4649203 (IFNLR1) with some inflammatory diseases.

Two-Photon Spontaneous Emission in Atomically Thin Plasmonic Nanostructures.

The ability to harness light-matter interactions at the few-photon level plays a pivotal role in quantum technologies. Single photons-the most elementary states of light-can be generated on demand in atomic and solid state emitters. Two-photon states are also key quantum assets, but achieving them in individual emitters is challenging because their generation rate is much slower than competing one-photon processes.

Genetic association between HLA-G 14-bp polymorphism and diseases: A systematic review and meta-analysis.

Background: HLA-G is an immune checkpoint molecule. Since a differential molecule expression has been reported even for healthy individuals, many studies have focused on polymorphisms at HLA-G regulatory regions, particularly the 3' untranslated region (3'UTR). The presence/absence of a 14-bp sequence was the first polymorphism described and it is the most studied in association between HLA-G and disorders.

Gene Expression of ABHD6, a Key Factor in the Endocannabinoid System, Can Be Modulated by Female Hormones in Human Immune Cells.

One of the main risk factors for the development of an autoimmune disease is to be a woman. Much attention has been given to the involvement of female hormones in their etiology and sexual bias, although the mechanisms behind this potentially strong contribution in disease susceptibility are poorly understood. ABHD6 gene was recently identified as a risk factor for system lupus erythematosus and the risk was correlated with overexpression of the gene.

DNA barcoding reveals the mislabeling of fish in a popular tourist destination in Brazil.

The consumption of raw fish has increased considerably in the West, since it is said to be potentially healthier than processed fish (for containing omega 3 and 6, essential amino acids and vitamins). However this potential benefit, as well as the taste, value and even the risk of extinction are not the same for all species of fish, constituting grounds for fraud. Using the principles of the DNA barcode we revealed mislabelling of fish in Japanese restaurants and fishmarkets in Florianópolis, a popular tourist capital in Brazil.

A possible relationship between gluconeogenesis and glycogen metabolism in rabbits during myocardial ischemia.

Ischemia is responsible for many metabolic abnormalities in the heart, causing changes in organ function. One of modifications occurring in the ischemic cell is changing from aerobic to anaerobic metabolism. This change causes the predominance of the use of carbohydrates as an energy substrate instead of lipids.

Haplotypes of the HLA-G 3' Untranslated Region Respond to Endogenous Factors of HLA-G+ and HLA-G- Cell Lines Differentially.

The immune checkpoint HLA-G prevents maternal rejection of the fetus and contributes in cancer invasion and acceptance of allografts. The 5' and 3' regulatory regions of the HLA-G gene are polymorphic and balancing selection probably maintains this variability. It is proposed that nucleotide variations may affect the level of HLA-G expression.

Estrogen receptor alpha gene ( ESR1) polymorphism can contribute to clinical findings in systemic lupus erythematosus patients.

Background Estrogens have a modulatory effect on several immune responses, many of which are correlated to autoimmune diseases. Estrogens act through binding to their receptors, and an overexpression of these receptors has been identified in patients with different autoimmune diseases. Here we analyzed the association of a putative functional genetic variant in the main estrogen receptor (ERα) gene ( ESR1), and the susceptibility to clinical findings and severity of SLE.

Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations.

While South Americans are underrepresented in human genomic diversity studies, Brazil has been a classical model for population genetics studies on admixture. We present the results of the EPIGEN Brazil Initiative, the most comprehensive up-to-date genomic analysis of any Latin-American population. A population-based genome-wide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil.

Population genetic data and forensic parameters of 30 autosomal InDel markers in Santa Catarina State population, Southern Brazil.

The application of DNA technology in forensic investigations has grown rapidly in the last 25 years and with an exponential increase of short tandem repeats (STRs) data, usually presented as allele frequencies, that may be later used as databases for forensic and population genetics purposes. Thereby, classes of molecular markers such as single nucleotide polymorphisms and insertions/deletions (InDels) have been presented as another option of genetic marker sets. These markers can be used in paternity cases, when mutations in STR polymorphisms are present, as well as in highly degraded DNA analysis.

Functional polymorphisms of interleukin-18 gene and risk of breast cancer in a Brazilian population.

Interleukin-18 (IL-18) is a key cytokine responsible for immune response and involved in the process of cancer development. In this case-control study, we tested whether IL-18 promoter polymorphism contributes to breast cancer susceptibility in Brazilian patients. The two groups studied were 154 patients with breast cancer and 118 healthy individuals.

Polymorphic sites at the 3' untranslated region of the HLA-G gene are associated with differential hla-g soluble levels in the Brazilian and French population.

HLA-G molecule has well-recognized tolerogenic properties, and the encoding gene shows lower frequency of polymorphism at the coding region but higher variability at regulatory 5' and 3' untranslated (3'UTR) regions. At least three 3'UTR polymorphic sites have been associated with HLA-G mRNA regulation, including the 14 base pair (14bp) Insertion/Deletion, +3142C-G and +3187A-G. We studied the association of polymorphic sites at 3'UTR (sequencing analysis, encompassing the 14bp Ins-Del/+3003T-C/+3010C-G/+3027C-A/+3035C-T/+3142C-G/+3187A-G/+3196C-G polymorphic sites) with plasma soluble HLA-G levels (sHLA-G, detected by ELISA) in 187 French and 153 Brazilian healthy individuals.

Lack of association between interleukin-18 polymorphisms and rheumatoid arthritis.

Objective: To assess the association of the polymorphisms of the interleukin-18 (IL-18) gene with rheumatoid arthritis (RA) and with risk factors for cardiovascular diseases (CVD).

Methods: This sample comprised 97 patients with RA and 151 healthy controls. In the patients, risk factors for CVD were analyzed, such as cholesterol levels, arterial hypertension, smoking habit, C-reactive protein (CRP) level, and rheumatoid factor.

Effect of infrared laser in the prevention and treatment of paresthesia in orthognathic surgery.

Orthognathic surgery is the surgical procedure that makes correcting deformities of the bones in the region of the maxilla and mandible a reality in the Brazilian dentistry. However, this type of surgery usually involves paresthesia in the postoperative period, concerning the surgeons who perform them and generating discomfort to patients. This study aimed at evaluating the effect of infrared laser (830 nm) in the prevention and treatment of paresthesias after orthognathic surgery.

HLA-G 3' untranslated region polymorphisms are associated with systemic lupus erythematosus in 2 Brazilian populations.

Objective: HLA-G has well recognized tolerogenic properties in physiological and nonphysiological conditions. The 3' untranslated region (3'UTR) of the HLA-G gene has at least 3 polymorphic sites (14-bpINS/DEL, +3142C/G, and +3196C/G) described as associated with posttranscriptional influence on messenger RNA production; however, only the 14-bpINS/DEL and +3142C/G sites have been studied in systemic lupus erythematosus (SLE).

Methods: We investigated the HLA-G 3'UTR polymorphic sites (14-bpINS/DEL, +3003C/T, +3010C/G, +3027A/C, +3035C/T, +3142C/G, +3187A/G, and +3196C/G) in 190 Brazilian patients with SLE and 282 healthy individuals in allele, genotype, and haplotype analyses.

European ancestry predominates in neuromyelitis optica and multiple sclerosis patients from Brazil.

Background: Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients.

Methods: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively.

Y-linked microsatellites in Amazonian Amerindians applied to ancestry estimates in Brazilian Afro-derived populations.

Objectives: Proper ancestral populations are required to determine accurate ancestry estimates for Afro-derived Brazilian populations. Herein, we have genotyped Y-STRs in Amazonian Amerindians to determine the ancestral contribution in quilombo remnant communities.

Methods: The frequencies for five Y-chromosome linked microsatellites (DYS19, DYS390, DYS391, DYS392, and DYS393) were characterized in four Amerindian tribes from Brazilian Amazon (Tikúna, Baníwa, Kashinawa, and Kanamarí), and in four quilombo remnants (Mimbó, Sítio Velho, Gaucinha, and São Gonçalo) and two urban populations (Teresina and Jequié) from Northeastern Brazil.

HLA-G 3'UTR polymorphisms in high grade and invasive cervico-vaginal cancer.

Besides HPV infection, the progression to cervical cancer also depends on the host immune response. HLA-G molecules are involved in the inhibition of cell-mediated immune responses and may permit the development of an infection in the female cervical tract. The aim of this study was to explore the possible influence of the two HLA-G polymorphisms located on the 3'UTR on the susceptibility to cervical cancer and risk factors in Brazilian patients.

Extensive settlement of the invasive MEAM1 population of Bemisia tabaci (Hemiptera: Aleyrodidae) in the Caribbean and rare detection of indigenous populations.

Bemisia tabaci populations belonging to Middle East-Asia Minor one (MEAM1) and Mediterranean (MED) groups (formerly biotype B and Q, respectively) have spread throughout the world. Although the introduction of MEAM1 is documented from several Caribbean islands, it is generally not known whether MED has also been introduced; whether indigenous populations have survived; and if in the affirmative, to which group(s) they belonged. Whiteflies were collected from seven islands on various plant species.

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population.

Hemophilia A is an X-linked, inherited, bleeding disorder caused by the partial or total inactivity of the coagulation factor VIII (FVIII). Due to difficulties in the direct recognition of the disease-associated mutation in the F8 gene, indirect diagnosis using polymorphic markers located inside or close to the gene is used as an alternative for determining the segregation of the mutant gene within families and thus for detecting carrier individuals and/or assisting in prenatal diagnosis. This study characterizes the allelic and haplotype frequencies, genetic diversity, population differentiation and linkage disequilibrium of five microsatellites (F8Int1, F8Int13, F8Int22, F8Int25.

The genetic structure of 3'untranslated region of the HLA-G gene: polymorphisms and haplotypes.

The HLA-G gene is predominantly expressed at the maternal-fetal interface. It has been associated with maternal-fetal tolerance and in the inhibition of cytotoxic T lymphocyte and natural killer cytolytic functions. At least two variations in the 3'untranslated region (UTR) of HLA-G locus are associated with HLA-G expression levels, the 14-bp deletion/insertion polymorphism and the +3142 single-nucleotide polymorphism (SNP).

Genomic ancestry in urban Afro-Brazilians.

Brazil is the result of interethnic crosses of European, African and Amerindian populations. Allelic frequencies for seven STR loci (TH01, TPOx, CSF1PO, vWA, FES/FPS, F13A1 and CD4), obtained from a sample of 70 individuals identified as Afro-Brazilian and 150 as mulatto, are presented here. Based on the frequencies of these genetic markers, estimates of interethnic admixture showed 62%, 26% and 12% of European, African and Amerindian contribution, respectively, for the mulatto sample and 37% and 63% of European and African contribution, respectively, for the Afro-Brazilian sample.