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1.
Influenza Other Respir Viruses ; 18(6): e13238, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38838076

RESUMO

BACKGROUND: COVID-19 may become a seasonal disease. SARS-CoV-2 active circulation coupled with vaccination efforts has undoubtedly modified the virus dynamic. It is therefore important investigate SARS-CoV-2 dynamic in different groups of population following the course of spatiotemporal variance and immunization. METHODS: To investigate SARS-CoV-2 clearance in different ethnic groups and the impact of immunization, we recruited 777 SARS-CoV-2-positive patients (570 Africans, 156 Caucasians, and 51 Asians). Participants were followed and regularly tested for 2 months until they had two negative tests. RESULTS: The vaccination rate was 64.6%. African individuals were less symptomatic (2%), Caucasians (41%) and Asians (36.6%). On average, viral clearance occurred after 10.5 days. Viral load at diagnosis was inversely correlated with viral clearance (p < 0.0001). The time of SARS-CoV-2 clearance was higher in Africans and Caucasians than in Asians (Dunn's test p < 0.0001 and p < 0.05, respectively). On average, viral clearance occurred within 9.5 days during the second semester (higher rate of vaccination and SARS-CoV-2 exposition), whereas it took 13.6 days during the first semester (lower rate of vaccination and SARS-CoV-2 exposition) (Mann-Whitney t-test p < 0.0001). CONCLUSION: In conclusion, ethnicity and spatiotemporal changes including SARS-CoV-2 exposition and immunization affect SARS-CoV-2 clearance.


Assuntos
COVID-19 , SARS-CoV-2 , Carga Viral , População Branca , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , População Branca/estatística & dados numéricos , Povo Asiático/estatística & dados numéricos , População Negra/estatística & dados numéricos , Idoso , Vacinação/estatística & dados numéricos , Vacinas contra COVID-19/administração & dosagem , Adulto Jovem , Fatores de Tempo
2.
BMJ Open ; 14(6): e078085, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38834331

RESUMO

OBJECTIVES: This study aims to investigate the incidence, associated factors and interventions to address teen pregnancy involvement (TPI) among African, Caribbean and Black (ACB) adolescents in North America. DESIGN: We conducted a scoping review of the literature, guided by the social-ecological model. DATA SOURCES: Studies were retrieved from databases such as Ovid Medline, Ovid Embase, CINAHL, CAB Direct and Google Scholar and imported into COVIDENCE for screening. ELIGIBILITY CRITERIA: The Joanna Briggs Institute scoping reviews protocol guided the establishment of eligibility criteria. Included studies focused on rates, associated factors and interventions related to TPI among ACB boys and girls aged 10-19 in North America. The publication time frame was restricted to 2010-2023, encompassing both peer-reviewed and non-peer-reviewed studies with diverse settings. DATA EXTRACTION AND SYNTHESIS: Data were extracted from 32 articles using a form developed by the principal author, focusing on variables aligned with the research question. RESULTS: The scoping review revealed a dearth of knowledge in Canadian and other North American literature on TPI in ACB adolescents. Despite an overall decline in teen pregnancy rates, disparities persist, with interventions such as postpartum prescription of long-acting birth control and teen mentorship programmes proving effective. CONCLUSION: The findings highlight the need for increased awareness, research and recognition of male involvement in adolescent pregnancies. Addressing gaps in housing, employment, healthcare, sexual health education and health systems policies for marginalised populations is crucial to mitigating TPI among ACB adolescents. IMPACT: The review underscores the urgent need for more knowledge from other North American countries, particularly those with growing ACB migrant populations.


Assuntos
Gravidez na Adolescência , Humanos , Adolescente , Gravidez na Adolescência/etnologia , Gravidez na Adolescência/estatística & dados numéricos , Gravidez , Feminino , Masculino , Região do Caribe/epidemiologia , Região do Caribe/etnologia , População Negra/estatística & dados numéricos , África/etnologia , África/epidemiologia , Criança
3.
Br J Nurs ; 33(11): S4-S10, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38850138

RESUMO

HIV in the UK is concentrated in a few key populations, and African migrants are among them. To date, there has been no documented record of the personal experiences of this group to accompany the significant amount of epidemiological data on these communities. There is no record celebrating the contribution, resilience and lived experience of Africans living with HIV in the UK, their allies and their response to the epidemic. A group of African women who are long-standing HIV activists and advocates, much respected for their leadership within the HIV community, considered that it was important to capture and tell these stories to ensure they were accurately recorded in the history of HIV. Their experience spans the story of the African community's experience of HIV in the UK. They formed a steering group and the project aimed to showcase 40 stories to coincide with the 40th anniversary of HIV in 2021.


Assuntos
Infecções por HIV , Migrantes , Humanos , Infecções por HIV/psicologia , Infecções por HIV/etnologia , Migrantes/psicologia , Reino Unido , Feminino , População Negra/psicologia , África/etnologia
4.
BMC Med Ethics ; 25(1): 67, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38849807

RESUMO

BACKGROUND: Genetic research can yield information that is unrelated to the study's objectives but may be of clinical or personal interest to study participants. There is an emerging but controversial responsibility to return some genetic research results, however there is little evidence available about the views of genomic researchers and others on the African continent. METHODS: We conducted a continental survey to solicit perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research. RESULTS: A total of 110 persons participated in the survey with 51 complete and 59 incomplete surveys received. Data was summarised using descriptive analysis. Overall, our respondents believed that individual genetic research results that are clinically actionable should be returned to study participants apparently because participants have a right to know things about their health, and it might also be a means for research participation to be recognized. Nonetheless, there is a need for development of precise guidance on how to return individual genetic research findings in African genomics research. DISCUSSION: Participants should receive information that could promote a healthier lifestyle; only clinically actionable findings should be returned, and participants should receive all important information that is directly relevant to their health. Nevertheless, detailed guidelines should inform what ought to be returned. H3Africa guidelines stipulate that it is generally considered good practice for researchers to feedback general study results, but there is no consensus about whether individual genomic study results should also be fed back. The decision on what individual results to feedback, if any, is very challenging and the specific context is important to make an appropriate determination.


Assuntos
Comitês de Ética em Pesquisa , Pesquisa em Genética , Genômica , Pesquisadores , Humanos , Pesquisadores/ética , Genômica/ética , Pesquisa em Genética/ética , África , Masculino , Feminino , Inquéritos e Questionários , Pessoal Administrativo/ética , Adulto , Retroalimentação , Pessoa de Meia-Idade , População Negra/genética
6.
PLoS One ; 19(6): e0304255, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38861503

RESUMO

BACKGROUND: In High-Income Countries (HICs) HIV/AIDS continues to disproportionally affect Black Women of African Descent (BWAD) and other racialized groups and is now a major public health concern. Despite the multiple efforts, evidence is limited on the effectiveness of HIV interventions to address the HIV outcomes inequalities among BWAD. This protocol outlines the methodological process of a systematic review that will gather quantitative and qualitative data to examine existing determinants of effective HIV prevention, treatment, and care interventions to address the HIV outcomes disparities and inequities among BWAD in HICs. METHODS: A systematic review of eligible articles will be conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. A comprehensive search of the literature will be made in MEDLINE(R) ALL (Ovid), Embase (Ovid), CINAHL (EBSCO Host), and Global Health (Ovid). Peer-reviewed studies involving the experience of BWAD in HICs; different HIV prevention, treatment, and care interventions both in the community and in a clinical setting; studies that report on the experience of BWAD on HIV intervention/ service including different levels of barriers and facilitators; reports of original research and peer-reviewed articles based on qualitative, quantitative, and mixed study designs published in English from 1980 onwards in HICs will be included. A narrative synthesis, thematic synthesis, and descriptive quantitative analysis of both extracted qualitative and quantitative data will be undertaken. CONCLUSION: Substantial changes including tailored interventions are needed to address the inequities in HIV outcomes that disproportionally impact BWAD in HICs. Understanding the determinants of the effectiveness of BWAD-focused HIV interventions is critical to stemming the HIV epidemic and reducing the burden of the disease and poor health outcomes experienced by BWAD in HICs Our study finding will inform the multi level and multisectoral stakeholder including public health, community-based organizations and nongovernmental civil society organization engaged in BWAD HIV and health policy and practice in HICs. Findings from this review will be used to guide effective response to HIV/AIDS using an equity-driven policy and practice framework. TRIAL REGISTRATION: PROSPERO registration number: CRD42023458938.


Assuntos
Países Desenvolvidos , Infecções por HIV , Revisões Sistemáticas como Assunto , Humanos , Infecções por HIV/prevenção & controle , Infecções por HIV/terapia , Feminino , População Negra , Disparidades em Assistência à Saúde
7.
Sci Rep ; 14(1): 9979, 2024 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-38693301

RESUMO

The strategic location of North Africa has led to cultural and demographic shifts, shaping its genetic structure. Historical migrations brought different genetic components that are evident in present-day North African genomes, along with autochthonous components. The Imazighen (plural of Amazigh) are believed to be the descendants of autochthonous North Africans and speak various Amazigh languages, which belong to the Afro-Asiatic language family. However, the arrival of different human groups, especially during the Arab conquest, caused cultural and linguistic changes in local populations, increasing their heterogeneity. We aim to characterize the genetic structure of the region, using the largest Amazigh dataset to date and other reference samples. Our findings indicate microgeographical genetic heterogeneity among Amazigh populations, modeled by various admixture waves and different effective population sizes. A first admixture wave is detected group-wide around the twelfth century, whereas a second wave appears in some Amazigh groups around the nineteenth century. These events involved populations with higher genetic ancestry from south of the Sahara compared to the current North Africans. A plausible explanation would be the historical trans-Saharan slave trade, which lasted from the Roman times to the nineteenth century. Furthermore, our investigation shows that assortative mating in North Africa has been rare.


Assuntos
População Negra , Genética Populacional , Humanos , África do Norte , População Negra/genética , Heterogeneidade Genética , Genoma Humano , Migração Humana , Genômica/métodos , População do Norte da África
9.
Am J Hum Genet ; 111(5): 927-938, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38701745

RESUMO

Leukocyte telomere length (LTL) varies significantly across human populations, with individuals of African ancestry having longer LTL than non-Africans. However, the genetic and environmental drivers of LTL variation in Africans remain largely unknown. We report here on the relationship between LTL, genetics, and a variety of environmental and climatic factors in ethnically diverse African adults (n = 1,818) originating from Botswana, Tanzania, Ethiopia, and Cameroon. We observe significant variation in LTL among populations, finding that the San hunter-gatherers from Botswana have the longest leukocyte telomeres and that the Fulani pastoralists from Cameroon have the shortest telomeres. Genetic factors explain ∼50% of LTL variation among individuals. Moreover, we observe a significant negative association between Plasmodium falciparum malaria endemicity and LTL while adjusting for age, sex, and genetics. Within Africa, adults from populations indigenous to areas with high malaria exposure have shorter LTL than those in populations indigenous to areas with low malaria exposure. Finally, we explore to what degree the genetic architecture underlying LTL in Africa covaries with malaria exposure.


Assuntos
Malária Falciparum , Telômero , Humanos , Malária Falciparum/genética , Malária Falciparum/epidemiologia , Malária Falciparum/parasitologia , Masculino , Feminino , Adulto , África Subsaariana/epidemiologia , Telômero/genética , Doenças Endêmicas , Plasmodium falciparum/genética , Plasmodium falciparum/patogenicidade , População Negra/genética , Pessoa de Meia-Idade , Leucócitos/metabolismo , Homeostase do Telômero/genética , Adulto Jovem , População da África Subsaariana
10.
Thromb Res ; 238: 197-205, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38733691

RESUMO

IMPORTANCE: COVID-19 has disproportionately affected racialized populations, with particular impact among individuals of Black individuals. However, it is unclear whether disparities in venous thromboembolic (VTE) complications exist between Black individuals and those belonging to other racial groups with confirmed SARS-CoV2 infections. OBJECTIVE: To summarize the prevalence and moderators associated with VTE among Black COVID-19 patients in minoritized settings, and to compare this to White and Asian COVID-19 patients according to sex, age, and comorbid health conditions (heart failure, cancer, obesity, hypertension). DESIGN SETTING, AND PARTICIPANTS: A systematic search of MEDLINE, Embase, CINAHL and CENTRAL for articles or reports published from inception to February 15, 2023. STUDY SELECTION: Reports on VTE among Black individuals infected with SARS-CoV2, in countries where Black people are considered a minority population group. DATA EXTRACTION AND SYNTHESIS: Study characteristics and results of eligible studies were independently extracted by 2 pairs of reviewers. VTE prevalence was extracted, and risk of bias was assessed. Prevalence estimates of VTE prevalence among Black individuals with COVID19 in each study were pooled. Where studies provided race-stratified VTE prevalence among COVID19 patients, odds ratios were generated using a random-effects model. MAIN OUTCOMES AND MEASURES: Prevalence of VTE, comprising of deep vein thrombosis and pulmonary embolism. RESULTS: Ten studies with 66,185 Black individuals reporting the prevalence of COVID-19 associated VTE were included. Weighted median age of included studies was 47.60. Pooled prevalence of COVID-19 associated VTE was 7.2 % (95 % CI, 3.8 % - 11.5 %) among Black individuals. Among individuals with SARS-CoV2 infections, Black population had higher risks of VTE compared to their White (OR = 1.79, [95 % CI 1.28-2.53], p < .001) or Asian (OR = 2.01, [95 % CI, 1.14-3.60], p = .017) counterparts, or patients with other racial identities (OR = 2.01, [95 % CI, 1.39, 2.92]; p < .001). CONCLUSIONS AND RELEVANCE: Black individuals with COVID-19 had substantially higher risk of VTE compared to White or Asian individuals. Given racial disparities in thrombotic disease burden related to COVID-19, medical education, research, and health policy interventions are direly needed to ensure adequate disease awareness among Black individuals, to facilitate appropriate diagnosis and treatment among Black patients with suspected and confirmed VTE, and to advocate for culturally safe VTE prevention strategies, including pre-existing inequalities to the COVID-19 pandemic that persist after the crisis.


Assuntos
COVID-19 , Tromboembolia Venosa , População Branca , Humanos , COVID-19/complicações , COVID-19/epidemiologia , Tromboembolia Venosa/epidemiologia , Tromboembolia Venosa/etiologia , Tromboembolia Venosa/etnologia , População Branca/estatística & dados numéricos , Prevalência , SARS-CoV-2 , Povo Asiático , Feminino , Masculino , Fatores de Risco , Grupos Minoritários/estatística & dados numéricos , População Negra/estatística & dados numéricos
11.
Nat Commun ; 15(1): 4546, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38806494

RESUMO

Asthma has striking disparities across ancestral groups, but the molecular underpinning of these differences is poorly understood and minimally studied. A goal of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is to understand multi-omic signatures of asthma focusing on populations of African ancestry. RNASeq and DNA methylation data are generated from nasal epithelium including cases (current asthma, N = 253) and controls (never-asthma, N = 283) from 7 different geographic sites to identify differentially expressed genes (DEGs) and gene networks. We identify 389 DEGs; the top DEG, FN1, was downregulated in cases (q = 3.26 × 10-9) and encodes fibronectin which plays a role in wound healing. The top three gene expression modules implicate networks related to immune response (CEACAM5; p = 9.62 × 10-16 and CPA3; p = 2.39 × 10-14) and wound healing (FN1; p = 7.63 × 10-9). Multi-omic analysis identifies FKBP5, a co-chaperone of glucocorticoid receptor signaling known to be involved in drug response in asthma, where the association between nasal epithelium gene expression is likely regulated by methylation and is associated with increased use of inhaled corticosteroids. This work reveals molecular dysregulation on three axes - increased Th2 inflammation, decreased capacity for wound healing, and impaired drug response - that may play a critical role in asthma within the African Diaspora.


Assuntos
Asma , População Negra , Metilação de DNA , Mucosa Nasal , Proteínas de Ligação a Tacrolimo , Humanos , Asma/genética , Asma/metabolismo , Mucosa Nasal/metabolismo , Proteínas de Ligação a Tacrolimo/genética , Proteínas de Ligação a Tacrolimo/metabolismo , Feminino , Masculino , População Negra/genética , Adulto , Redes Reguladoras de Genes , Fibronectinas/metabolismo , Fibronectinas/genética , Estudos de Casos e Controles , Regulação da Expressão Gênica , Pessoa de Meia-Idade , Multiômica
12.
Nat Med ; 30(5): 1384-1394, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38740997

RESUMO

How human genetic variation contributes to vaccine effectiveness in infants is unclear, and data are limited on these relationships in populations with African ancestries. We undertook genetic analyses of vaccine antibody responses in infants from Uganda (n = 1391), Burkina Faso (n = 353) and South Africa (n = 755), identifying associations between human leukocyte antigen (HLA) and antibody response for five of eight tested antigens spanning pertussis, diphtheria and hepatitis B vaccines. In addition, through HLA typing 1,702 individuals from 11 populations of African ancestry derived predominantly from the 1000 Genomes Project, we constructed an imputation resource, fine-mapping class II HLA-DR and DQ associations explaining up to 10% of antibody response variance in our infant cohorts. We observed differences in the genetic architecture of pertussis antibody response between the cohorts with African ancestries and an independent cohort with European ancestry, but found no in silico evidence of differences in HLA peptide binding affinity or breadth. Using immune cell expression quantitative trait loci datasets derived from African-ancestry samples from the 1000 Genomes Project, we found evidence of differential HLA-DRB1 expression correlating with inferred protection from pertussis following vaccination. This work suggests that HLA-DRB1 expression may play a role in vaccine response and should be considered alongside peptide selection to improve vaccine design.


Assuntos
Cadeias HLA-DRB1 , Humanos , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB1/imunologia , Lactente , População Negra/genética , Vacinas contra Hepatite B/imunologia , Locos de Características Quantitativas , Masculino , Feminino , Uganda , Formação de Anticorpos/genética , Formação de Anticorpos/imunologia , Vacina contra Coqueluche/imunologia , Vacina contra Coqueluche/genética , Vacinação , Coqueluche/prevenção & controle , Coqueluche/imunologia , Coqueluche/genética
13.
Dental Press J Orthod ; 29(2): e2423206, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38775599

RESUMO

OBJECTIVE: This study aimed to compare the nasopharynx and oropharynx airway dimensions of Caucasians, Blacks, Japanese, Japanese Brazilians, and Black Caucasians. METHODS: A sample of 216 lateral radiographs of untreated young Brazilian subjects (mean age of 12.94 years; SD 0.88) were divided into five groups: Black Caucasian, Black, Caucasian, Japanese, and Japanese Brazilian. Lateral radiographs were used to measure the oropharynx (from the midpoint on the soft palate to the closest point on the anterior pharyngeal wall) and the nasopharynx (from the intersection of the posterior border of the tongue and the inferior border of the mandible to the closest point on the posterior pharyngeal wall). Analyses of variance (ANOVA) and Tukey's test were performed (p< 0.05). RESULTS: The linear dimension of the oropharynx was similar among the different ethnic groups. Caucasian individuals presented a significantly greater linear dimension of the nasopharynx than Black Caucasian and Black individuals. CONCLUSIONS: All the groups had similar buccopharyngeal values. However, Caucasian individuals had significantly higher values when compared to Black Caucasians and Black individuals.


Assuntos
Povo Asiático , População Negra , Cefalometria , Mandíbula , Nasofaringe , Orofaringe , População Branca , Humanos , Nasofaringe/anatomia & histologia , Nasofaringe/diagnóstico por imagem , Orofaringe/anatomia & histologia , Orofaringe/diagnóstico por imagem , Criança , Masculino , Feminino , Mandíbula/anatomia & histologia , Mandíbula/diagnóstico por imagem , Adolescente , Brasil/etnologia , Língua/anatomia & histologia , Língua/diagnóstico por imagem , Japão/etnologia , Palato Mole/anatomia & histologia , Palato Mole/diagnóstico por imagem , Oclusão Dentária , Etnicidade
14.
Genome Med ; 16(1): 74, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38816834

RESUMO

BACKGROUND: Polygenic prediction studies in continental Africans are scarce. Africa's genetic and environmental diversity pose a challenge that limits the generalizability of polygenic risk scores (PRS) for body mass index (BMI) within the continent. Studies to understand the factors that affect PRS variability within Africa are required. METHODS: Using the first multi-ancestry genome-wide association study (GWAS) meta-analysis for BMI involving continental Africans, we derived a multi-ancestry PRS and compared its performance to a European ancestry-specific PRS in continental Africans (AWI-Gen study) and a European cohort (Estonian Biobank). We then evaluated the factors affecting the performance of the PRS in Africans which included fine-mapping resolution, allele frequencies, linkage disequilibrium patterns, and PRS-environment interactions. RESULTS: Polygenic prediction of BMI in continental Africans is poor compared to that in European ancestry individuals. However, we show that the multi-ancestry PRS is more predictive than the European ancestry-specific PRS due to its improved fine-mapping resolution. We noted regional variation in polygenic prediction across Africa's East, South, and West regions, which was driven by a complex interplay of the PRS with environmental factors, such as physical activity, smoking, alcohol intake, and socioeconomic status. CONCLUSIONS: Our findings highlight the role of gene-environment interactions in PRS prediction variability in Africa. PRS methods that correct for these interactions, coupled with the increased representation of Africans in GWAS, may improve PRS prediction in Africa.


Assuntos
População Negra , Índice de Massa Corporal , Estudo de Associação Genômica Ampla , Herança Multifatorial , Humanos , África , População Negra/genética , Polimorfismo de Nucleotídeo Único , População Branca/genética , Predisposição Genética para Doença , Frequência do Gene , Interação Gene-Ambiente , Desequilíbrio de Ligação , Masculino , Feminino
16.
Transpl Int ; 37: 12605, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38711816

RESUMO

Patients of Asian and black ethnicity face disadvantage on the renal transplant waiting list in the UK, because of lack of human leucocyte antigen and blood group matched donors from an overwhelmingly white deceased donor pool. This study evaluates outcomes of renal allografts from Asian and black donors. The UK Transplant Registry was analysed for adult deceased donor kidney only transplants performed between 2001 and 2015. Asian and black ethnicity patients constituted 12.4% and 6.7% of all deceased donor recipients but only 1.6% and 1.2% of all deceased donors, respectively. Unadjusted survival analysis demonstrated significantly inferior long-term allograft outcomes associated with Asian and black donors, compared to white donors. On Cox-regression analysis, Asian donor and black recipient ethnicities were associated with poorer outcomes than white counterparts, and on ethnicity matching, compared with the white donor-white recipient baseline group and adjusting for other donor and recipient factors, 5-year graft outcomes were significantly poorer for black donor-black recipient, Asian donor-white recipient, and white donor-black recipient combinations in decreasing order of worse unadjusted 5-year graft survival. Increased deceased donation among ethnic minorities could benefit the recipient pool by increasing available organs. However, it may require a refined approach to enhance outcomes.


Assuntos
Povo Asiático , População Negra , Sobrevivência de Enxerto , Transplante de Rim , Doadores de Tecidos , Humanos , Reino Unido , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Doadores de Tecidos/provisão & distribuição , População Negra/estatística & dados numéricos , Sistema de Registros , População Branca/estatística & dados numéricos , Resultado do Tratamento , Idoso , Modelos de Riscos Proporcionais , Listas de Espera , Transplantados/estatística & dados numéricos
17.
Mol Biol Rep ; 51(1): 612, 2024 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-38704770

RESUMO

BACKGROUND: The α-Major Regulatory Element (α-MRE), also known as HS-40, is located upstream of the α-globin gene cluster and has a crucial role in the long-range regulation of the α-globin gene expression. This enhancer is polymorphic and several haplotypes were identified in different populations, with haplotype D almost exclusively found in African populations. The purpose of this research was to identify the HS-40 haplotype associated with the 3.7 kb α-thalassemia deletion (-α3.7del) in the Portuguese population, and determine its ancestry and influence on patients' hematological phenotype. METHODS AND RESULTS: We selected 111 Portuguese individuals previously analyzed by Gap-PCR to detect the presence of the -α3.7del: 50 without the -α3.7del, 34 heterozygous and 27 homozygous for the -α3.7del. The HS-40 region was amplified by PCR followed by Sanger sequencing. Four HS-40 haplotypes were found (A to D). The distribution of HS-40 haplotypes and genotypes are significantly different between individuals with and without the -α3.7del, being haplotype D and genotype AD the most prevalent in patients with this deletion in homozygosity. Furthermore, multiple correspondence analysis revealed that individuals without the -α3.7del are grouped with other European populations, while samples with the -α3.7del are separated from these and found more closely related to the African population. CONCLUSION: This study revealed for the first time an association of the HS-40 haplotype D with the -α3.7del in the Portuguese population, and its likely African ancestry. These results may have clinical importance as in vitro analysis of haplotype D showed a decrease in its enhancer activity on α-globin gene.


Assuntos
Haplótipos , Deleção de Sequência , alfa-Globinas , Talassemia alfa , Feminino , Humanos , Masculino , alfa-Globinas/genética , Talassemia alfa/genética , População Negra/genética , Frequência do Gene/genética , Genótipo , Haplótipos/genética , Portugal , Sequências Reguladoras de Ácido Nucleico/genética , Deleção de Sequência/genética
18.
Gerontologist ; 64(7)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38769644

RESUMO

BACKGROUND AND OBJECTIVES: This study examined the performance of the Modified Caregiver Strain Index (MCSI) in a sample of Black and White caregivers of persons living with dementia. RESEARCH DESIGN AND METHODS: Data on 153 dyads enrolled in the Care Ecosystem dementia care management program were analyzed, including sociodemographic variables, dementia severity, and caregiver burden and wellbeing. Factor structure, item-response patterns, and concurrent validity were assessed across racial groups. RESULTS: Differences between Black and White caregivers included gender, dyad relation, and socioeconomic disadvantage. Factor structure and item loadings varied by racial cohort, with parameters supporting a 3-factor model. For Black caregivers, finances and work, emotional and physical strain, and family and personal adjustment items loaded together on individual factors. For White caregivers physical and emotional strain items loaded on separate factors, although personal and family adjustment items loaded with work and financial strain items. Item-level analysis revealed differences between groups, with Black caregivers endorsing physical strain to a greater degree (p = .003). Total MCSI scores were positively correlated with concurrent measures like the PHQ-9 (White: r = 0.67, Black: r = 0.54) and the GAD-2 (White: r = 0.47, Black: r = 0.4), and negatively correlated with self-efficacy ratings (White: r = -0.54, Black: r = -0.55), with a p < .001 for all validity analysis. DISCUSSION AND IMPLICATIONS: The MCSI displayed acceptable statistical performance for Black and White caregivers of persons living with dementia and displayed a factor structure sensitive to cultural variations of the construct. Researchers results highlight the inherent complexity and the relevance of selecting inclusive measures to appropriately serve diverse populations.


Assuntos
Cuidadores , Demência , População Branca , Humanos , Cuidadores/psicologia , Feminino , Demência/etnologia , Masculino , População Branca/psicologia , Idoso , Pessoa de Meia-Idade , Negro ou Afro-Americano/psicologia , Idoso de 80 Anos ou mais , Estresse Psicológico , Inquéritos e Questionários , População Negra/psicologia , Sobrecarga do Cuidador/psicologia , Psicometria
19.
Technol Cult ; 65(2): 473-495, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38766958

RESUMO

This article explores why white supremacists regard self-directed mobility by people of color as threatening by examining a controversy that unfolded in a mining town called Springs during the apartheid era in South Africa. Drawing on archives, oral histories, and testimonies, it shows how white residents of Selcourt and Selection Park, along with their allies in the town council, prevented Black workers from walking and cycling through the suburbs. Infrastructure and social disciplinary institutions proved effective in forcing Black workers to largely comply. It argues that the white supremacist disciplinary imperative against the workers arose directly from the characteristics of their mode of mobility. In their open embodiment, free from the confines of mechanized transport, and slow speeds, the workers engaged in a sustained refusal of spatial segregation. The article highlights how racial difference as an analytical category sheds light on mobility control within regimes of white supremacy.


Assuntos
Caminhada , África do Sul , História do Século XX , Humanos , Caminhada/história , População Negra/história , Ciclismo/história , Apartheid/história , Racismo/história , Relações Raciais/história
20.
Nat Genet ; 56(5): 819-826, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38741014

RESUMO

We performed genome-wide association studies of breast cancer including 18,034 cases and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with breast cancer risk (P < 5 × 10-8), including associations of a low-frequency missense variant rs61751053 in ARHGEF38 with overall breast cancer (odds ratio (OR) = 1.48) and a common variant rs76664032 at chromosome 2q14.2 with triple-negative breast cancer (TNBC) (OR = 1.30). Approximately 15.4% of cases with TNBC carried six risk alleles in three genome-wide association study-identified TNBC risk variants, with an OR of 4.21 (95% confidence interval = 2.66-7.03) compared with those carrying fewer than two risk alleles. A polygenic risk score (PRS) showed an area under the receiver operating characteristic curve of 0.60 for the prediction of breast cancer risk, which outperformed PRS derived using data from females of European ancestry. Our study markedly increases the population diversity in genetic studies for breast cancer and demonstrates the utility of PRS for risk prediction in females of African ancestry.


Assuntos
População Negra , Neoplasias da Mama , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Humanos , Feminino , Estudo de Associação Genômica Ampla/métodos , Neoplasias da Mama/genética , População Negra/genética , Estudos de Casos e Controles , Fatores de Risco , Neoplasias de Mama Triplo Negativas/genética , Alelos , Herança Multifatorial/genética , Pessoa de Meia-Idade , Loci Gênicos , População Branca/genética
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