Access to dental services in an elder population of African descent in Brazil.

OBJECTIVES: We investigated access to dental services and associated factors in a community of Quilombola older people. BACKGROUND: Quilombola populations are groups of individuals descended from black Africans subjected to slavery during part of Brazilian history. As marginalised and neglected individuals, they have high rates of negative indicators and require further attention to the social determinants that affect their health reality. MATERIALS AND METHODS: A cross-sectional quantitative study was conducted in the Quilombola community of Castainho, in the Northeast region of Brazil. In this community, 34 older people aged between 65 and 74 resided. We collected self-report data on sociodemographic and economic characteristics, along with oral examinations by the researchers. The primary dependent variable was regular access to dental services. Statistical analysis used Fisher's exact test (P = .05). RESULTS: Among the 32 participants in the final sample, 18.8% (n = 6) reported accessing dental services in the previous 6 months. Self-declared individuals of mixed race, with positive self-assessment of oral health, and those who did not self-perceive the need for treatment had lower rates of regular access to dental services (P < .05). CONCLUSION: Use of dental services by older Quilombola people is low, and there are differences by ethnicity and individual perception of oral health.

Asthma morbidity measures across Black ethnic subgroups.

BACKGROUND: Black adults are disproportionately affected by asthma and are often considered a homogeneous group in research studies despite cultural and ancestral differences. OBJECTIVE: We sought to determine if asthma morbidity differs across adults in Black ethnic subgroups. METHODS: Adults with moderate-severe asthma were recruited across the continental United States and Puerto Rico for the PREPARE (PeRson EmPowered Asthma RElief) trial. Using self-identifications, we categorized multiethnic Black (ME/B) participants (n = 226) as Black Latinx participants (n = 146) or Caribbean, continental African, or other Black participants (n = 80). African American (AA/B) participants (n = 518) were categorized as Black participants who identified their ethnicity as being American. Baseline characteristics and retrospective asthma morbidity measures (self-reported exacerbations requiring systemic corticosteroids [SCs], emergency department/urgent care [ED/UC] visits, hospitalizations) were compared across subgroups using multivariable regression. RESULTS: Compared with AA/B participants, ME/B participants were more likely to be younger, residing in the US Northeast, and Spanish speaking and to have lower body mass index, health literacy, and <1 comorbidity, but higher blood eosinophil counts. In a multivariable analysis, ME/B participants were significantly more likely to have ED/UC visits (incidence rate ratio [IRR] = 1.34, 95% CI = 1.04-1.72) and SC use (IRR = 1.27, 95% CI = 1.00-1.62) for asthma than AA/B participants. Of the ME/B subgroups, Puerto Rican Black Latinx participants (n = 120) were significantly more likely to have ED/UC visits (IRR = 1.64, 95% CI = 1.22-2.21) and SC use for asthma (IRR = 1.43, 95% CI = 1.06-1.92) than AA/B participants. There were no significant differences in hospitalizations for asthma among subgroups. CONCLUSIONS: ME/B adults, specifically Puerto Rican Black Latinx adults, have higher risk of ED/UC visits and SC use for asthma than other Black subgroups.

Targeting of intracellular oncoproteins with peptide-centric CARs.

The majority of oncogenic drivers are intracellular proteins, constraining their immunotherapeutic targeting to mutated peptides (neoantigens) presented by individual human leukocyte antigen (HLA) allotypes1. However, most cancers have a modest mutational burden that is insufficient for generating responses using neoantigen-based therapies2,3. Neuroblastoma is a paediatric cancer that harbours few mutations and is instead driven by epigenetically deregulated transcriptional networks4. Here we show that the neuroblastoma immunopeptidome is enriched with peptides derived from proteins essential for tumorigenesis. We focused on targeting the unmutated peptide QYNPIRTTF discovered on HLA-A*24:02, which is derived from the neuroblastoma-dependency gene and master transcriptional regulator PHOX2B. To target QYNPIRTTF, we developed peptide-centric chimeric antigen receptors (PC-CARs) through a counter panning strategy using predicted potentially cross-reactive peptides. We further proposed that PC-CARs can recognize peptides on additional HLA allotypes when presenting a similar overall molecular surface. Informed by our computational modelling results, we show that PHOX2B PC-CARs also recognize QYNPIRTTF presented by HLA-A*23:01, the most common non-A2 allele in people with African ancestry. Finally, we demonstrate potent and specific killing of neuroblastoma cells expressing these HLAs in vitro and complete tumour regression in mice. These data suggest that PC-CARs have the potential to expand the pool of immunotherapeutic targets to include non-immunogenic intracellular oncoproteins and allow targeting through additional HLA allotypes in a clinical setting.

Diseases of Africans, an African disease: transformations of quijila between Central West Africa and Minas Gerais, in Brazil, in the seventeenth and eighteenth centuries. / Doenças de africanos, doença africana: transformações da quijila, entre a África centro-ocidental e as Minas Gerais, Brasil, séculos XVII e XVIII.

This article discusses the origin of quijila/kijila in Central West African culture, more particularly in the cultural universe of the Imbangala (Jaga) and the Ambundu and Kimbundu populations who lived in the Portuguese regions of Angola and the Congo in the seventeenth and eighteenth centuries. Following this, it investigates how the concept of quijila was structured, comprehended, and transformed, both in Africa, where it was basically a food prohibition, but whose applications and meanings varied; and in Brazil, to where it was transported in the 1700s, and where it transformed into a disease which attacked blacks, especially Africans of various origins, being framed as such in the Hippocratic-Galen universe characteristic of that time.

Este artigo discute a origem da quijila/kijila na cultura centro-ocidental africana, mais particularmente no universo cultural dos imbangalas (jagas) e das populações ambundos e kimbundos, que viviam nas regiões portuguesas de Angola e do Congo, nos séculos XVII e XVIII. Em seguida, investiga como foi estruturado, compreendido e transformado o conceito de quijila tanto na África, basicamente um interdito alimentar, mas cujos significados e aplicações variam, quanto no Brasil, para onde foi transportado nos Setecentos, transformando-se numa doença que atacava os negros, especialmente os africanos de diversas origens, sendo enquadrada pelos médicos locais no universo da medicina hipocrática-galena vigente na época.

Large-scale plasma proteomics comparisons through genetics and disease associations.

High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore 3072 data generated by the UK Biobank Pharma Proteomics Project1 on plasma samples from more than 50,000 UK Biobank participants with phenotypic and genotypic data, stratifying on British or Irish, African and South Asian ancestries. We compared the results with those of a SomaScan v4 study on plasma from 36,000 Icelandic people2, for 1,514 of whom Olink data were also available. We found modest correlation between the two platforms. Although cis protein quantitative trait loci were detected for a similar absolute number of assays on the two platforms (2,101 on Olink versus 2,120 on SomaScan), the proportion of assays with such supporting evidence for assay performance was higher on the Olink platform (72% versus 43%). A considerable number of proteins had genomic associations that differed between the platforms. We provide examples where differences between platforms may influence conclusions drawn from the integration of protein levels with the study of diseases. We demonstrate how leveraging the diverse ancestries of participants in the UK Biobank helps to detect novel associations and refine genomic location. Our results show the value of the information provided by the two most commonly used high-throughput proteomics platforms and demonstrate the differences between them that at times provides useful complementarity.

Genotyping, sequencing and analysis of 140,000 adults from Mexico City.

The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City1. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. We describe high levels of relatedness and substantial heterogeneity in ancestry composition across individuals. Most sequenced individuals had admixed Indigenous American, European and African ancestry, with extensive admixture from Indigenous populations in central, southern and southeastern Mexico. Indigenous Mexican segments of the genome had lower levels of coding variation but an excess of homozygous loss-of-function variants compared with segments of African and European origin. We estimated ancestry-specific allele frequencies at 142 million genomic variants, with an effective sample size of 91,856 for Indigenous Mexican ancestry at exome variants, all available through a public browser. Using whole-genome sequencing, we developed an imputation reference panel that outperforms existing panels at common variants in individuals with high proportions of central, southern and southeastern Indigenous Mexican ancestry. Our work illustrates the value of genetic studies in diverse populations and provides foundational imputation and allele frequency resources for future genetic studies in Mexico and in the United States, where the Hispanic/Latino population is predominantly of Mexican descent.

A weakly structured stem for human origins in Africa.

Despite broad agreement that Homo sapiens originated in Africa, considerable uncertainty surrounds specific models of divergence and migration across the continent1. Progress is hampered by a shortage of fossil and genomic data, as well as variability in previous estimates of divergence times1. Here we seek to discriminate among such models by considering linkage disequilibrium and diversity-based statistics, optimized for rapid, complex demographic inference2. We infer detailed demographic models for populations across Africa, including eastern and western representatives, and newly sequenced whole genomes from 44 Nama (Khoe-San) individuals from southern Africa. We infer a reticulated African population history in which present-day population structure dates back to Marine Isotope Stage 5. The earliest population divergence among contemporary populations occurred 120,000 to 135,000 years ago and was preceded by links between two or more weakly differentiated ancestral Homo populations connected by gene flow over hundreds of thousands of years. Such weakly structured stem models explain patterns of polymorphism that had previously been attributed to contributions from archaic hominins in Africa2-7. In contrast to models with archaic introgression, we predict that fossil remains from coexisting ancestral populations should be genetically and morphologically similar, and that only an inferred 1-4% of genetic differentiation among contemporary human populations can be attributed to genetic drift between stem populations. We show that model misspecification explains the variation in previous estimates of divergence times, and argue that studying a range of models is key to making robust inferences about deep history.

Beliefs and knowledge related to human papillomavirus (HPV) vaccine among African Americans and African immigrants young adults.

BACKGROUND: Despite the disparate human papillomavirus (HPV) infection rates among sexually active Black young adults, HPV vaccine uptake remains low among this population. This study aimed to explore HPV beliefs, attitudes, and knowledge among Black young adults and provide recommendations on ways to improve vaccine uptake. METHODS: We used a mixed-method, convergent design to conduct five focus groups and administered a 40-item electronic survey that was developed with health belief model (HBM) constructs. We assessed HPV and vaccine knowledge, barriers, and attitudes toward vaccination. We analyzed quantitative data using descriptive statistics and bivariate methods. Focus group transcripts were analyzed using content analysis. Results were integrated to obtain a better understanding of the topic. RESULTS: Forty individuals participated in the study. The mean age was 22.2 ± 4.5 years and 55% identified as African immigrants. Integrated data revealed themes mapped to relevant HBM constructs. Almost one third (32.5%) of participants were unaware of their susceptibility to HPV infection and its severity. From focus group discussions, the majority (75%) believed that vaccines are beneficial. Major cues to action include promoting HPV vaccine uptake via community wide informational sessions, provider recommendation, and social and mass media campaigns. CONCLUSION: Barriers to vaccine uptake, limited HPV knowledge, and lack of vaccine recommendation are important factors contributing to low vaccine uptake among Black young adults. Interventions to decrease barriers to HPV vaccination, increase HPV knowledge, address misconceptions, and unfavorable beliefs are needed to promote HPV vaccine uptake.

Stroke genetics informs drug discovery and risk prediction across ancestries.

Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.

African-specific molecular taxonomy of prostate cancer.

Prostate cancer is characterized by considerable geo-ethnic disparity. African ancestry is a significant risk factor, with mortality rates across sub-Saharan Africa of 2.7-fold higher than global averages1. The contributing genetic and non-genetic factors, and associated mutational processes, are unknown2,3. Here, through whole-genome sequencing of treatment-naive prostate cancer samples from 183 ancestrally (African versus European) and globally distinct patients, we generate a large cancer genomics resource for sub-Saharan Africa, identifying around 2 million somatic variants. Significant African-ancestry-specific findings include an elevated tumour mutational burden, increased percentage of genome alteration, a greater number of predicted damaging mutations and a higher total of mutational signatures, and the driver genes NCOA2, STK19, DDX11L1, PCAT1 and SETBP1. Examining all somatic mutational types, we describe a molecular taxonomy for prostate cancer differentiated by ancestry and defined as global mutational subtypes (GMS). By further including Chinese Asian data, we confirm that GMS-B (copy-number gain) and GMS-D (mutationally noisy) are specific to African populations, GMS-A (mutationally quiet) is universal (all ethnicities) and the African-European-restricted subtype GMS-C (copy-number losses) predicts poor clinical outcomes. In addition to the clinical benefit of including individuals of African ancestry, our GMS subtypes reveal different evolutionary trajectories and mutational processes suggesting that both common genetic and environmental factors contribute to the disparity between ethnicities. Analogous to gene-environment interaction-defined here as a different effect of an environmental surrounding in people with different ancestries or vice versa-we anticipate that GMS subtypes act as a proxy for intrinsic and extrinsic mutational processes in cancers, promoting global inclusion in landmark studies.

The sequences of 150,119 genomes in the UK Biobank.

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large-scale whole-genome sequencing studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on whole-exome sequencing and/or imputation.

International Migration and Modern Contraceptive Use: A Research Note on African Migrants to France.

This research note presents a multisited analysis of migration and contraceptive use by standardizing and integrating a sample of African migrants in France from six West and Central African countries in the Trajectoires et Origines survey with a sample of women living in the same six African countries in the Demographic and Health Surveys. Descriptive analyses indicate that the contraceptive use of migrants more closely aligns with that of native French women than with that of women from origin countries. In particular, migrants report dramatically higher use of long-acting reversible contraceptives and short-acting hormonal methods and lower use of traditional methods than do women in the countries of origin. Although migrants differ from women in the countries of origin on observed characteristics, including education and family background, reweighting women in the origin countries to resemble migrants on these characteristics does little to explain differences in contraceptive use between the groups. Given that contraceptive use is an important proximate determinant of fertility, our results suggest that contraceptive use should feature more prominently in the dominant demographic paradigms of migrant fertility.

The Reaffirmation of Self? Narrative Inquiry for Researching Violence Against Women and Stigma.

Stigma presents specific ethical and epistemological problems for qualitative researchers of violence against women. Narrative research methods promise to enable ethical research on violence while still offering deep insight into stigmatized topics. This article describes narrative methods used in six focus group discussions and four in-depth interviews with victim-survivors of violence against women, all African migrant women living in Ireland. The article connects narrative and stigma in research with the social lives of participants. It concludes with specific recommendations for creative uses of narrative inquiry to explore stigmatized themes, noting that stigma can never be entirely removed from the research encounter.

Dissolution profile of different brands of low solubility drugs available in the Nigerian and Brazilian pharmaceutical markets / Dissolution profile of different brands of low solubility drugs available in the Nigerian and Brazilian pharmaceutical markets

The purpose of this work was to elaborate a diagnosis of the dissolution test in Africa in comparison with Brazil, evaluating the dissolution profile of low solubility drugs such as albendazole, ibuprofen, furosemide, glibenclamide, hydrochlorothiazide and carvedilol to ascertain their quality. The dissolution profiles were evaluated by utilizing the United States Pharmacopeia (USP). The glibenclamide medicine was evaluated according to the Food and Drug Administration (FDA), while a dissolution method was developed for the carvedilol medicine. A filter selection test for all the drugs showed that cannula is suitable for all, except for carvedilol, which is centrifuged. The various brands of Nigerian and Brazilian medicines tested showed some statistical differences. The suitable conditions that allowed the dissolution of carvedilol to be determined were the USP type II apparatus at 75 rpm containing 900 mL of acetate buffer, pH 4.5. The results of the dissolution test showed that out of the 17 different brands of Brazilian medicines and 17 different products from Nigeria, 94.12% and 58.82% passed respectively

O objetivo deste trabalho foi elaborar um diagnóstico do teste de dissolução na África em comparação ao Brasil, avaliando o perfil de dissolução de medicamentos de baixa solubilidade como albendazol, ibuprofeno, furosemida, glibenclamida, hidroclorotiazida e carvedilol para verificar sua qualidade.Os perfis de dissolução foram avaliados utilizando a Farmacopeia dos Estados Unidos (USP). O medicamento glibenclamida foi avaliado de acordo com a Food and Drug Administration (FDA), enquanto um método de dissolução foi desenvolvido para o medicamento carvedilol.Um teste de seleção de filtro para todos os medicamentos mostrou que a cânula é adequada para todos, exceto para o carvedilol, que é centrifugado. As diversas marcas de medicamentos Nigerianos e Brasileiros testadas apresentaram algumas diferenças estatísticas. As condições adequadas que permitiram a determinação da dissolução do carvedilol foram o aparelho USP tipo II a 75 rpm contendo 900 mL de tampão acetato, pH 4,5. Os resultados do teste de dissolução mostraram que das 17 diferentes marcas de medicamentos brasileiros e 17 diferentes produtos da Nigéria, 94,12% e 58,82% foram aprovados, respectivamente

Conhecimento, atitude e prática de universitários intercambistas africanos acerca das Infecções Sexualmente Transmissíveis / Conocimiento, actitud y práctica de estudiantes africanos de intercambio sobre las infecciones de transmisión sexual / Knowledge, attitude and practice of African university exchange students about Sexually Transmitted Infections

RESUMO Objetivo avaliar o conhecimento, a atitude e a prática de universitários intercambistas provenientes do continente africano acerca das Infecções Sexualmente Transmissíveis. Método estudo transversal, realizado de dezembro de 2019 a março de 2020, em universidade pública internacional brasileira localizada no Ceará. A amostra foi constituída por 150 estudantes africanos de diferentes cursos de graduação. Utilizou-se do inquérito de Conhecimento, Atitude e Prática. Resultados os universitários apresentaram conhecimento satisfatório acerca da forma de transmissão das Infecções Sexualmente Transmissíveis, porém, com deficiências a respeito das hepatites virais. Identificou-se associação entre sexo e atitude acerca do uso de preservativo em relação sexual com parceria fixa (p=0,042). No que se refere às práticas, houve associação entre sexo e uso do preservativo na primeira relação sexual (p=0,001), ter mais que um parceiro (p=0,001) e mais que dez parceiros em toda a vida (0,007). No que se relaciona às práticas sexuais nos últimos 12 meses, observou-se associação estatística entre ter relações sexuais com mais de um parceiro sexual e sexo do participante (p=0,001). Conclusão e implicações para a prática enfatiza-se a importância de a universidade pesquisada realizar atividades de educação em saúde que abordem Infecções Sexualmente Transmissíveis, bem como de extensão universitária, que envolvam alunos imigrantes africanos.

RESUMEN Objetivo evaluar el conocimiento, la actitud y la práctica de estudiantes de intercambio del continente africano sobre las Infecciones de Transmisión Sexual. Método estudio transversal, realizado de diciembre de 2019 a marzo de 2020, en una universidad pública internacional brasileña ubicada en Ceará. La muestra estuvo compuesta por 150 estudiantes africanos de diferentes cursos de pregrado. Se utilizó la encuesta de Conocimiento, Actitud y Práctica. Resultados los universitarios mostraron conocimientos satisfactorios sobre la transmisión de Infecciones de Transmisión Sexual, sin embargo, con deficiencias sobre las hepatitis virales. Se identificó asociación entre el sexo y la actitud sobre el uso del preservativo en las relaciones sexuales con pareja estable (p=0,042). En cuanto a las prácticas, hubo asociación entre sexo y uso de preservativo en la primera relación sexual (p=0,001), tener más de una pareja (p=0,001) y tener más de diez parejas en la vida (0,007). En cuanto a las prácticas sexuales en los últimos 12 meses, hubo asociación estadística entre tener sexo con más de una pareja sexual y el género del participante (p=0,001). Conclusión e implicaciones para la práctica se destaca la importancia de que la universidad investigada realice actividades de educación en salud que aborden las Infecciones de Transmisión Sexual, así como actividades de extensión universitaria, involucrando estudiantes inmigrantes africanos.

ABSTRACT Objective to evaluate the knowledge, attitude and practice of university exchange students from the African continent about Sexually Transmitted Infections. Method a cross-sectional study, conducted from December 2019 to March 2020, in a public international Brazilian university located in Ceará. The sample consisted of 150 African students from different undergraduate courses. It was used the survey of Knowledge, Attitude and Practice. Results the students showed satisfactory knowledge about the form of transmission of Sexually Transmitted Infections, however, with deficiencies regarding viral hepatitis. An association between sex and attitude about condom use in sexual intercourse with a fixed partner was identified (p=0.042). Regarding the practices, there was an association between sex and condom use in the first sexual relation (p=0.001), having more than one partner (p=0.001) and more than ten partners in the whole life (0.007). Regarding sexual practices in the last 12 months, there was a statistical association between having sex with more than one sexual partner and the participant's sex (p=0.001). Conclusion and implications for practice the importance of the university researched carrying out health education activities that address Sexually Transmitted Infections, as well as university extension activities that involve African immigrant students, is emphasized.

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population.

The genetic background of Brazilians encompasses Amerindian, African, and European components as a result of the colonization of an already Amerindian inhabited region by Europeans, associated to a massive influx of Africans. Other migratory flows introduced into the Brazilian population genetic components from Asia and the Middle East. Currently, Brazil has a highly admixed population and, therefore, the study of genetic factors in the context of health or disease in Brazil is a challenging and remarkably interesting subject. This phenomenon is exemplified by the genetic variant CCR5Δ32, a 32 base-pair deletion in the CCR5 gene. CCR5Δ32 originated in Europe, but the time of origin as well as the selective pressures that allowed the maintenance of this variant and the establishment of its current frequencies in the different human populations is still a field of debates. Due to its origin, the CCR5Δ32 allele frequency is high in European-derived populations (~10%) and low in Asian and African native human populations. In Brazil, the CCR5Δ32 allele frequency is intermediate (4-6%) and varies on the Brazilian States, depending on the migratory history of each region. CCR5 is a protein that regulates the activity of several immune cells, also acting as the main HIV-1 co-receptor. The CCR5 expression is influenced by CCR5Δ32 genotypes. No CCR5 expression is observed in CCR5Δ32 homozygous individuals. Thus, the CCR5Δ32 has particular effects on different diseases. At the population level, the effect that CCR5Δ32 has on European populations may be different than that observed in highly admixed populations. Besides less evident due to its low frequency in admixed groups, the effect of the CCR5Δ32 variant may be affected by other genetic traits. Understanding the effects of CCR5Δ32 on Brazilians is essential to predict the potential use of pharmacological CCR5 modulators in Brazil. Therefore, this study reviews the impacts of the CCR5Δ32 on the Brazilian population, considering infectious diseases, inflammatory conditions, and cancer. Finally, this article provides a general discussion concerning the impacts of a European-derived variant, the CCR5Δ32, on a highly admixed population.

Acculturation and use of traditional medicine among African migrant women in Sydney: a mixed method study.

BACKGROUND: More than 80% of the African population depend on traditional medicine as a primary healthcare. Although the African migrant community is increasing in Australia, there is no research documenting if and how African migrant communities have maintained or changed their use of traditional health practices after migration. This study aims to answer the following research questions: does acculturation influence the use of traditional medicine? and how are cultural health practices or beliefs manifested among African migrant women in Australia? METHOD: A mixed methods design which involved a cross-sectional survey (n = 319) and individual interviews (n = 15) was conducted. Survey data were analysed using SPSS (version 23) and logistic regression model was used to test associations. Qualitative data were analysed thematically using NVivo 11 software to identify themes and conceptual categories in the participants' responses. The study was informed by acculturation theory. RESULT: Both the survey and the interview data indicated that cultural health practices were retained as an important form of healthcare for African migrant women in Sydney. The findings indicated that African migrants continued to use traditional medicines as part of their cultural identity and to build cohesive ethnic community to share traditional values and cultural practices. Women who relatively stayed for shorter period of time in Australia and migrated at a later age were more likely to use TM. CONCLUSION: Acculturation proxy measures increased the likelihood of TM use suggesting African migrant women retain their cultural health practices in Australia and use of TM was manifested as part of their cultural identity. The findings have implications to improve the provision of culturally sensitive and responsive health services when caring for African migrant women.

Exome sequencing and analysis of 454,787 UK Biobank participants.

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study2. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at P ≤ 2.18 × 10-11. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as risk-lowering associations for hypertension (SLC9A3R2), diabetes (MAP3K15, FAM234A) and asthma (SLC27A3). Six genes were associated with brain imaging phenotypes, including two involved in neural development (GBE1, PLD1). Of the signals available and powered for replication in an independent cohort, 81% were confirmed; furthermore, association signals were generally consistent across individuals of European, Asian and African ancestry. We illustrate the ability of exome sequencing to identify gene-trait associations, elucidate gene function and pinpoint effector genes that underlie GWAS signals at scale.