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1.
BMC Prim Care ; 25(1): 327, 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39232655

RESUMEN

BACKGROUND: Primary health care is the first point of contact for patients from refugee backgrounds in the Australian health system. Sociocultural factors, including beliefs and value systems, are salient determinants of health literacy and access to primary health care services. Although African refugees in Australia have diverse sociocultural backgrounds, little is known about the influence of sociocultural factors on their experiences of accessing primary health care services. Guided by the theoretical framework of access to health care, this study examined from the perspective of African refugees how culturally and religiously conditioned, constructed and bound health beliefs, knowledge and practices influence their experiences of access to, acceptance and use of primary health care services and information in Australia. METHODS: This exploratory, qualitative study involved 19 African refugees from nine countries living in New South Wales, Australia. Semi-structured interviews were conducted and recorded using Zoom software. The interviews were transcribed verbatim and analysed using a bottom-up thematic analytical approach for theme generation. RESULTS: Four main themes were identified. The themes included: participants' experiences of services as inaccessible and monocultural and providing information in a culturally unsafe and insensitive manner; the impact of the clinical care environment; meeting expectations and needs; and overcoming access challenges and reclaiming power and autonomy through familiar means. The findings generally support four dimensions in the access to health care framework, including approachability, acceptability, availability and accommodation and appropriateness. CONCLUSION: African refugees experience significant social and cultural challenges in accessing primary health care services. These challenges could be due to a lack of literacy on the part of health services and their providers in servicing the needs of African refugees. This is an important finding that needs to be addressed by the Australian health care system and services. Enhancing organisational health literacy through evidence-informed strategies in primary health systems and services can help reduce disparities in health access and outcomes that may be exacerbated by cultural, linguistic and religious differences.


Asunto(s)
Alfabetización en Salud , Accesibilidad a los Servicios de Salud , Atención Primaria de Salud , Investigación Cualitativa , Refugiados , Humanos , Refugiados/psicología , Femenino , Masculino , Adulto , Persona de Mediana Edad , África/etnología , Conocimientos, Actitudes y Práctica en Salud/etnología , Nueva Gales del Sur , Adulto Joven , Australia , Anciano , Pueblo Africano
2.
J Electrocardiol ; 86: 153773, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39173469

RESUMEN

AIMS: To evaluate the performance of the currently accepted LVH electrocardiographic (ECG) criteria from ethnic-specific normal values. METHODS AND RESULTS: We included 309 hypertensive subjects with both ECG (12­leads device) and echocardiographic analysis. The diagnosis of LVH was established by echocardiography from specific norms. Current ECG criteria for the diagnosis of LVH have low performances. Area Under Curve of Sokolow-Lyon, Peguero-Lo Presti, Cornell voltage and Cornell Product were respectively 0.61, 0.65, 0.72 and 0.71. CONCLUSION: In hypertensive African, the most accurate criterion for diagnosing LVH is Cornell voltage.


Asunto(s)
Población Negra , Electrocardiografía , Hipertensión , Hipertrofia Ventricular Izquierda , Humanos , Hipertensión/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Hipertrofia Ventricular Izquierda/diagnóstico , Sensibilidad y Especificidad , Reproducibilidad de los Resultados , Ecocardiografía , Adulto , Pueblo Africano
3.
Diabetes Res Clin Pract ; 214: 111792, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39069090

RESUMEN

Diagnosing diabetes by shortening the OGTT to 1-h and substituting 1-h post-load glucose (PG) ≥ 209 mg/dL for 2-h PG≥200 mg/dL has been proposed. One-hour PG≥209 mg/dL is from a meta-analysis without any African-descent populations. Our data suggest 1-h PG≥183 mg/dL maybe more optimal for Africans. As with waist circumference guidelines, population-specific thresholds may be appropriate.


Asunto(s)
Glucemia , Prueba de Tolerancia a la Glucosa , Humanos , Glucemia/análisis , Femenino , Masculino , Población Negra , Persona de Mediana Edad , Diabetes Mellitus/sangre , Diabetes Mellitus/diagnóstico , Adulto , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Estados Unidos/epidemiología , Pueblo Africano
4.
Sci Rep ; 14(1): 15653, 2024 07 08.
Artículo en Inglés | MEDLINE | ID: mdl-38977763

RESUMEN

Despite their ancient past and high diversity, African populations are the least represented in human population genetic studies. In this study, uniparental markers (mtDNA and Y chromosome) were used to investigate the impact of sociocultural factors on the genetic diversity and inter-ethnolinguistic gene flow in the three major Nigerian groups: Hausa (n = 89), Yoruba (n = 135) and Igbo (n = 134). The results show a distinct history from the maternal and paternal perspectives. The three Nigerian groups present a similar substrate for mtDNA, but not for the Y chromosome. The two Niger-Congo groups, Yoruba and Igbo, are paternally genetically correlated with populations from the same ethnolinguistic affiliation. Meanwhile, the Hausa is paternally closer to other Afro-Asiatic populations and presented a high diversity of lineages from across Africa. When expanding the analyses to other African populations, it is observed that language did not act as a major barrier to female-mediated gene flow and that the differentiation of paternal lineages is better correlated with linguistic than geographic distances. The results obtained demonstrate the impact of patrilocality, a common and well-established practice in populations from Central-West Africa, in the preservation of the patrilineage gene pool and in the affirmation of identity between groups.


Asunto(s)
Cromosomas Humanos Y , ADN Mitocondrial , Flujo Génico , Variación Genética , Femenino , Humanos , Masculino , África Occidental , Población Negra/genética , Cromosomas Humanos Y/genética , ADN Mitocondrial/genética , Genética de Población , Haplotipos , Herencia Paterna , Pueblo Africano/genética
5.
BMC Genomics ; 25(1): 651, 2024 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-38951798

RESUMEN

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent symptoms continue to develop, such as antisense oligonucleotides, it is important to discover novel genes that could be targets for treatment. Additionally, as cohorts continue to grow, performing analyses in ALS subtypes, such as primary lateral sclerosis (PLS), becomes possible due to an increase in power. These analyses could highlight novel pathways in disease manifestation. METHODS: Building on our previous discoveries using rare variant association analyses, we conducted rare variant burden testing on a substantially larger multi-ethnic cohort of 6,970 ALS patients, 166 PLS patients, and 22,524 controls. We used intolerant domain percentiles based on sub-region Residual Variation Intolerance Score (subRVIS) that have been described previously in conjunction with gene based collapsing approaches to conduct burden testing to identify genes that associate with ALS and PLS. RESULTS: A gene based collapsing model showed significant associations with SOD1, TARDBP, and TBK1 (OR = 19.18, p = 3.67 × 10-39; OR = 4.73, p = 2 × 10-10; OR = 2.3, p = 7.49 × 10-9, respectively). These genes have been previously associated with ALS. Additionally, a significant novel control enriched gene, ALKBH3 (p = 4.88 × 10-7), was protective for ALS in this model. An intolerant domain-based collapsing model showed a significant improvement in identifying regions in TARDBP that associated with ALS (OR = 10.08, p = 3.62 × 10-16). Our PLS protein truncating variant collapsing analysis demonstrated significant case enrichment in ANTXR2 (p = 8.38 × 10-6). CONCLUSIONS: In a large multi-ethnic cohort of 6,970 ALS patients, collapsing analyses validated known ALS genes and identified a novel potentially protective gene, ALKBH3. A first-ever analysis in 166 patients with PLS found a candidate association with loss-of-function mutations in ANTXR2.


Asunto(s)
Esclerosis Amiotrófica Lateral , Femenino , Humanos , Masculino , Esclerosis Amiotrófica Lateral/genética , Etnicidad/genética , Predisposición Genética a la Enfermedad , Variación Genética , Pueblo Europeo , Pueblos del Este de Asia , Pueblo Africano , Hispánicos o Latinos , Pueblos de Medio Oriente , Personas del Sur de Asia
6.
BMC Musculoskelet Disord ; 25(1): 555, 2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39020350

RESUMEN

HYPOTHESIS/PURPOSE: The prevalence of trochlear dysplasia is common in different populations. BACKGROUND: The prevalence of trochlear dysplasia in the general population, categorised by sex, race, age, and body mass index, has been sparse. This study aimed to define the prevalence of trochlear dysplasia based on the latter categories. STUDY DESIGN: Cohort retrospective study. METHODS: 1162 skeletal mature healthy femora were obtained from a CT-scan-based modelling system (SOMA). Thin slice CT scans were acquired exclusively for medical indications such as polytrauma (20%), CT angiography (70%) and other reasons (i.e. Total Joint Replacement) (10%). Trochlear dysplasia was measured using Pfirmann's method. Patient demographics such as age, race and sex were recorded. RESULTS: The overall prevalence of trochlear dysplasia is 4.5% and is far more common in Asian female patients compared to Caucasian, African and Middle Eastern knees. CONCLUSION: Overall, the prevalence of dysplasia in the general population was determined to be 4.5%, with female patients being more likely to suffer from the condition. Patients of Asian and Caucasian race were more likely to have trochlear dysplasia, while Middle Eastern male patients displayed more dysplastic values than their female counterparts.


Asunto(s)
Fémur , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Enfermedades del Desarrollo Óseo/epidemiología , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Estudios de Cohortes , Fémur/diagnóstico por imagen , Fémur/anomalías , Prevalencia , Estudios Retrospectivos , Población Blanca/estadística & datos numéricos , Pueblos de Medio Oriente , Pueblo Africano , Pueblo Asiatico
7.
PLoS One ; 19(6): e0305826, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38917149

RESUMEN

BACKGROUND: Human immunodeficiency virus (HIV) and antiretroviral treatment (ART) are both associated with hypercoagulability. Altered clot properties could be a potential mechanism thereof. We aimed to investigate the association of HIV and ART, with fibrinogen and plasma clot properties in a group of Black South Africans. METHODS: At baseline, 151 newly diagnosed people living with HIV (PLWH) and 176 controls were recruited. Some PLWH subsequently commenced with ARTs (n = 70) while others remained ART-naïve (n = 81). Fibrinogen and clot properties (turbidity assay) were investigated from baseline to 5-year follow-up. A sub-group of 21 women (n = 10 ART-treated; n = 11 ART-naïve) with HIV was systematically selected and matched with 12 controls, and additional clot properties (rheometry, permeability and fibre diameter) were investigated. RESULTS: Fibrinogen was lower in the HIV groups compared to the controls, while % γ' fibrinogen was higher. PLWH had shorter lag times and lower maximum absorbance than the controls (p<0.05). Their CLTs on the other hand were longer. Most variables increased over time in all groups, but differences in the degree of change over time was observed for lag time (p = 0.024) and permeability (p = 0.03). Participants who commenced with ART had a tendency of delayed clot formation (p = 0.08) and increased clot permeability (p = 0.005). CONCLUSION: PLWH had lower total fibrinogen concentration and formed less dense clots. They also formed clots that were more difficult to lyse, which likely not resulted from altered clot properties. ART use (NNRTI's) had a moderately protective effect, delaying clot formation, and increasing clot permeability.


Asunto(s)
Población Negra , Coagulación Sanguínea , Fibrinógeno , Infecciones por VIH , Humanos , Femenino , Infecciones por VIH/tratamiento farmacológico , Sudáfrica/epidemiología , Adulto , Fibrinógeno/metabolismo , Fibrinógeno/análisis , Masculino , Coagulación Sanguínea/efectos de los fármacos , Persona de Mediana Edad , Estudios de Casos y Controles , Pueblo Africano
8.
Arch Oral Biol ; 165: 106015, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38838514

RESUMEN

OBJECTIVE: Dental disease is frequently used as a proxy for diet and overall health of individuals of past populations. The aim of this study is to investigate dental disease in a sample of enslaved African individuals recovered from an urban dump (15th-17th centuries) in Lagos, Portugal. DESIGN: In all, 81 African individuals (>12 years old) were analysed (19 males, 49 females, and 13 of unknown sex), in a total of 2283 alveoli, 2061 teeth, and 2213 interdental septa. Analysed oral pathologies include dental caries, periodontal disease, and ante-mortem tooth loss. Dental wear was also recorded. RESULTS: Dental caries affected 52.0 % of the teeth, although only 31.9 % were cavitated lesions. In all, 96.3 % of the individuals presented at least one cariogenic lesion. Gingivitis and periodontitis were recorded in 56.7 % and 19.0 % of the septa, respectively. Only one male individual had all septal areas healthy. Ante-mortem tooth loss was recorded in 38.3 % of the individuals, in a total of 96 teeth lost (4.2 %). Regarding occlusal wear, 70.8 % of the surfaces were recorded with grades 1-3. CONCLUSIONS: The frequencies of the oral pathological conditions observed may not only reflect a cariogenic diet (rich in starches and with a high frequency of meals) but also the conditions during the maritime voyage of the first victims of the North Atlantic slave trade (xerostomia due to lack of water, sea sickness and vomiting, vitamin C deficiency, poor hygiene), and also the impact intentional dental modifications had on the dentitions.


Asunto(s)
Pueblo Africano , Caries Dental , Personas Esclavizadas , Enfermedades Periodontales , Pérdida de Diente , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pueblo Africano/estadística & datos numéricos , Población Negra/estadística & datos numéricos , Caries Dental/epidemiología , Caries Dental/etnología , Caries Dental/historia , Personas Esclavizadas/historia , Historia del Siglo XV , Historia del Siglo XVI , Historia del Siglo XVII , Enfermedades Periodontales/epidemiología , Enfermedades Periodontales/etnología , Enfermedades Periodontales/historia , Portugal/epidemiología , Pérdida de Diente/epidemiología , Pérdida de Diente/etnología , Pérdida de Diente/historia , Desgaste de los Dientes/historia
9.
J Oral Sci ; 66(3): 151-156, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-38853002

RESUMEN

PURPOSE: This study was conducted to investigate the root canal anatomy of maxillary first molars in Black South Africans. METHODS: Micro-computed tomography was used to investigate 101 maxillary first molars (53 teeth from the right, 48 from the left; 50 male and 51 female teeth). The number of root canals in each tooth was determined, and the relationship between side, sex and age was analyzed using chi-squared test. To determine intra- and inter-observer reliability, Cohen's kappa coefficients were calculated. RESULTS: Intra- and inter-rater agreements of 96.92% and 98.08% were achieved, respectively. Most teeth contained either three or four canals, but a second, third and fourth mesio-buccal canal was found in 60.39%, 5.94% and 0.99% of teeth, respectively. The disto-buccal and palatal roots contained predominantly single canals, but additional canals were noted in 2.97% and 1.98% of teeth. Four canals were common in females and teeth on the right side often contained a second mesio-buccal canal. However, the prevalence of a third mesio-buccal canal was higher in males than in females. CONCLUSION: The teeth studied showed diversity and variations between sexes and arch sides. These findings will aid clinicians in endodontic treatment and will be applicable for educational purposes.


Asunto(s)
Población Negra , Cavidad Pulpar , Maxilar , Diente Molar , Microtomografía por Rayos X , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Pueblo Africano , Cavidad Pulpar/diagnóstico por imagen , Cavidad Pulpar/anatomía & histología , Maxilar/diagnóstico por imagen , Maxilar/anatomía & histología , Diente Molar/anatomía & histología , Diente Molar/diagnóstico por imagen , Sudáfrica , Anciano
10.
BMJ Open ; 14(6): e078085, 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38834331

RESUMEN

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.


Asunto(s)
Pueblo Africano , Población Negra , Pueblos Caribeños , Embarazo en Adolescencia , Adolescente , Niño , Femenino , Humanos , Masculino , Embarazo , África/etnología , África/epidemiología , Población Negra/estadística & datos numéricos , Región del Caribe/epidemiología , Región del Caribe/etnología , Embarazo en Adolescencia/etnología , Embarazo en Adolescencia/estadística & datos numéricos , América del Norte/epidemiología
11.
BMC Genom Data ; 25(1): 50, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38831280

RESUMEN

BACKGROUND: Dental caries (DC) is a multifaceted oral condition influenced by genetic and environmental factors. Recent advancements in genotyping and sequencing technologies, such as Genome-Wide Association Studies (GWAS) have helped researchers to identify numerous genetic variants associated with DC, but their prevalence and significance across diverse global populations remain poorly understood as most of the studies were conducted in European populations, and very few were conducted in Asians specifically in Indians. AIM: This study aimed to evaluate the genetic affinity of effect alleles associated with DC to understand the genetic relationship between global populations with respect to the Indian context. METHODOLOGY: This present study used an empirical approach in which variants associated with DC susceptibility were selected. These variants were identified and annotated using the GWAS summary. The genetic affinity was evaluated using Fst. RESULTS: The effect of allele frequencies among different populations was examined, revealing variations in allele distribution. African populations exhibited higher frequencies of specific risk alleles, whereas East Asian and European populations displayed distinct profiles. South Asian populations showed a unique genetic cluster. CONCLUSION: Our study emphasises the complex genetic landscape of DC and highlights the need for population-specific research as well as validation of GWAS-identified markers in Indians before defining them as established candidate genes.


Asunto(s)
Caries Dental , Frecuencia de los Genes , Estudio de Asociación del Genoma Completo , Humanos , Alelos , Pueblo Asiatico/genética , Caries Dental/epidemiología , Caries Dental/etnología , Caries Dental/genética , Predisposición Genética a la Enfermedad , India/epidemiología , India/etnología , Polimorfismo de Nucleótido Simple , Pueblo Africano , Pueblos del Este de Asia , Pueblo Europeo , Personas del Sur de Asia , Pueblos de América del Norte
12.
J Affect Disord ; 358: 42-51, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38705522

RESUMEN

BACKGROUND: The COVID-19 pandemic negatively impacted mental health in the general population in Britain. Ethnic minority people suffered disproportionately, in terms of health and economic outcomes, which may contribute to poorer mental health. We compare the prevalence of depression and anxiety across 18 ethnic groups in Britain during the COVID-19 pandemic. METHODS: Secondary analysis of cross-sectional data (February-November 2021) from 12,161 participants aged 18-60 years old (N with data on outcomes = 11,540 for depression & 11,825 for anxiety), obtained from the Evidence for Equality National Survey (EVENS). Data were weighted to account for selection bias and coverage bias. Weighted regression models examined ethnic differences in depression (Centre for Epidemiologic Studies Depression Scale) and anxiety (Generalised Anxiety Disorder-7). Effect modification analyses explored whether ethnic differences in outcomes were consistent within age and sex sub-groups. RESULTS: Compared to White British people, greater odds of anxiety caseness (and greater anxiety symptoms) were observed for Arab (OR = 2.57; 95 % CI = 1.35-4.91), Mixed White and Black Caribbean (1.57; 1.07-2.30), any other Black (2.22, 1.28-3.87) and any other Mixed (1.58; 1.08-2.31) ethnic groups. Lower odds of depression caseness (and lower depressive symptoms) were identified for Chinese (0.63; 0.46-0.85), Black African (0.60; 0.46-0.79), and any other Asian (0.55; 0.42-0.72) ethnic groups. LIMITATIONS: Cross-sectional data limits the opportunity to identify changes in ethnic inequalities in mental health over time. CONCLUSIONS: We have identified certain ethnic groups who may require more targeted mental health support to ensure equitable recovery post-pandemic. Despite finding lower levels of depression for some ethnic groups, approximately one third of people within each ethnic group met criteria for depression.


Asunto(s)
COVID-19 , Etnicidad , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Ansiedad/etnología , Ansiedad/epidemiología , Trastornos de Ansiedad/etnología , Trastornos de Ansiedad/epidemiología , COVID-19/etnología , Estudios Transversales , Depresión/etnología , Depresión/epidemiología , Etnicidad/estadística & datos numéricos , Etnicidad/psicología , Salud Mental/etnología , Salud Mental/estadística & datos numéricos , Prevalencia , SARS-CoV-2 , Reino Unido/epidemiología , Reino Unido/etnología , Árabes , Grupos Raciales , Población Negra , Pueblos Caribeños , Población Blanca , Pueblo Africano , Pueblo Asiatico
13.
Int J Legal Med ; 138(5): 1873-1880, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38730060

RESUMEN

INTRODUCTION: Evaluation of the eruption of mandibular third molars in orthopantomograms (OPGs) is a method of forensic age assessment. The objective of our study was to provide valid reference data for this trait within a population of black South Africans. The study was guided by the criteria for reference studies in age assessment. MATERIALS AND METHODS: A study population from Pretoria, South Africa comprising 670 OPGs obtained from 338 black females and 332 black males aged between 15.00 and 25.97 years was analysed. All OPGs were performed for medical indication during the period from 2011 to 2022 and were retrospectively evaluated. From the 670 OPGs, a total of 1021 mandibular third molars were evaluated. The assessment of mandibular third molars was conducted using the staging scale presented by Olze et al. in 2012. Two experienced dentists evaluated the OPGs independently of each other. If the two examiners diverged in their assessments, a consensus stage was assigned. RESULTS: As expected, the mean, median and minimal age increased with higher stages for both teeth and both sexes. The minimum age recorded for stage D, indicating complete tooth eruption, was 15.79 years in females and 16.62 years in males. CONCLUSION: As it is the case for previous reference studies in other countries, placing exclusive reliance on the evaluation of mandibular third molar eruption is inadequate for ascertaining the age of majority among Black South Africans. Future studies need to examine if our results are transferable to other countries in Sub-Saharan Africa.


Asunto(s)
Determinación de la Edad por los Dientes , Población Negra , Mandíbula , Tercer Molar , Radiografía Panorámica , Erupción Dental , Humanos , Tercer Molar/diagnóstico por imagen , Tercer Molar/crecimiento & desarrollo , Determinación de la Edad por los Dientes/métodos , Sudáfrica , Masculino , Adolescente , Femenino , Adulto , Adulto Joven , Mandíbula/diagnóstico por imagen , Estudios Retrospectivos , Valores de Referencia , Pueblo Africano
14.
Nat Med ; 30(5): 1384-1394, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38740997

RESUMEN

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.


Asunto(s)
Cadenas HLA-DRB1 , Femenino , Humanos , Lactante , Masculino , Formación de Anticuerpos/genética , Formación de Anticuerpos/inmunología , Población Negra/genética , Vacunas contra Hepatitis B/inmunología , Cadenas HLA-DRB1/genética , Cadenas HLA-DRB1/inmunología , Vacuna contra la Tos Ferina/inmunología , Vacuna contra la Tos Ferina/genética , Sitios de Carácter Cuantitativo , Uganda , Vacunación , Tos Ferina/prevención & control , Tos Ferina/inmunología , Tos Ferina/genética , Burkina Faso , Sudáfrica , Pueblo Africano , Pueblo Europeo
16.
Am J Hum Genet ; 111(5): 979-989, 2024 05 02.
Artículo en Inglés | MEDLINE | ID: mdl-38604166

RESUMEN

Genotype imputation is now fundamental for genome-wide association studies but lacks fairness due to the underrepresentation of references from non-European ancestries. The state-of-the-art imputation reference panel released by the Trans-Omics for Precision Medicine (TOPMed) initiative improved the imputation of admixed African-ancestry and Hispanic/Latino samples, but imputation for populations primarily residing outside of North America may still fall short in performance due to persisting underrepresentation. To illustrate this point, we imputed the genotypes of over 43,000 individuals across 123 populations around the world and identified numerous populations where imputation accuracy paled in comparison to that of European-ancestry populations. For instance, the mean imputation r-squared (Rsq) for variants with minor allele frequencies between 1% and 5% in Saudi Arabians (n = 1,061), Vietnamese (n = 1,264), Thai (n = 2,435), and Papua New Guineans (n = 776) were 0.79, 0.78, 0.76, and 0.62, respectively, compared to 0.90-0.93 for comparable European populations matched in sample size and SNP array content. Outside of Africa and Latin America, Rsq appeared to decrease as genetic distances to European-ancestry reference increased, as predicted. Using sequencing data as ground truth, we also showed that Rsq may over-estimate imputation accuracy for non-European populations more than European populations, suggesting further disparity in accuracy between populations. Using 1,496 sequenced individuals from Taiwan Biobank as a second reference panel to TOPMed, we also assessed a strategy to improve imputation for non-European populations with meta-imputation, but this design did not improve accuracy across frequency spectra. Taken together, our analyses suggest that we must ultimately strive to increase diversity and size to promote equity within genetics research.


Asunto(s)
Frecuencia de los Genes , Genética de Población , Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido Simple , Humanos , Genoma Humano , Genotipo , Población Blanca/genética , Pueblo Europeo , Hispánicos o Latinos , Pueblo Africano , Población Negra
17.
Int J Obes (Lond) ; 48(8): 1092-1102, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38615158

RESUMEN

BACKGROUND/AIMS: Coronary heart disease morbidity and mortality are higher in people of South Asian origin than in those of African origin. We investigated whether as young adults without diabetes, people in Mauritius of South Asian descent (Indians) would show a more adverse cardiovascular risk profile that those of predominantly African descent (Creoles), and whether this could be explained by ethnic differences in visceral adiposity or other fat distribution patterns. METHODS: The study was conducted in 189 young non-physically active adults, with the following measurements conducted after an overnight fast: anthropometry (weight, height, waist circumference), whole-body and regional body composition by dual-energy x-ray absorptiometry, blood pressure, and blood assays for glycemic (glucose and HbA1c) and lipid profile (triglycerides and cholesterols). RESULTS: The results indicate higher serum triglycerides and lower HDL cholesterol in men than in women, and in Indians than in Creoles (p < 0.001). No significant differences due to sex or ethnicity are observed in body mass index and waist circumference, but indices of visceral adiposity (visceral/android, visceral/subcutaneous) and visceral-to-peripheral adiposity ratio (visceral/gynoid, visceral/limb) were significantly higher in men than in women, and in Indians than in Creoles. The significant effects of sex and ethnicity on blood lipid profile were either completely abolished or reduced to a greater extent after adjusting for the ratio of visceral-to-peripheral adiposity than for visceral adiposity per se. CONCLUSIONS: In young adults in Mauritius, Indians show a more adverse pattern of body fat distribution and blood lipid risk profile than Creoles. Differences in their fat distribution patterns, however, only partially explain their differential atherogenic lipid risk profile, amid a greater impact of visceral-to-peripheral adiposity ratio than that of visceral adiposity per se on sex and ethnic differences in cardiovascular risks; the former possibly reflecting the ratio of hazardous (visceral) adiposity and protective (peripheral) superficial subcutaneous adiposity.


Asunto(s)
Adiposidad , Población Negra , Enfermedades Cardiovasculares , Grasa Intraabdominal , Humanos , Masculino , Femenino , Mauricio/epidemiología , Adulto , Adiposidad/fisiología , Población Negra/estadística & datos numéricos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etnología , Enfermedades Cardiovasculares/fisiopatología , Pueblo Asiatico/estadística & datos numéricos , Adulto Joven , Factores de Riesgo de Enfermedad Cardiaca , India/etnología , India/epidemiología , Factores Sexuales , Factores de Riesgo , Índice de Masa Corporal , Pueblo Africano , Pueblos de América del Norte
19.
PLoS One ; 19(3): e0295639, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38502654

RESUMEN

INTRODUCTION: Complex challenges amongst ageing cohorts of adolescents and adults living with perinatally acquired HIV (PaHIV) may impact on hospitalisation. We report hospitalisation rates and explored predictive factors for hospitalisation in adolescents and adults (10-35 years) living with PaHIV in England. METHOD: Retrospective observational cohort study over a three-year period 2016-2019. Data collected included cause and duration of hospitalisation, HIV viral load and CD4 lymphocyte count. The primary outcome was overnight hospitalisation. Patients exited at study end/ transfer of care (TOC)/ loss to follow up (LTFU) or death. Maternity/hospital admissions at other centres were excluded. Admission rates per 100 person-years (95% CI) were calculated by age group. Negative binomial regression with generalized estimating equations was performed. RESULTS: 255 patients contributed 689 person-years of follow up. 56% were female and 83% were of a Black, Black British, Caribbean or African ethnicity. At baseline, the median age was 19 years (IQR 16-22). 36 individuals experienced a total of 62 admissions which resulted in 558 overnight stays (median stay was 5 nights). One person died (lymphoma), six had TOC and one was LTFU by the end of the three-year study period. Crude incidence of admission for the whole cohort was 9.0 per 100 PY (6.9-11.6). The respective crude incidence rates were 1.5 PY (0.0-8.2) in those aged 10-14 years and 3.5 PY (1.5-7.0) in the 15-19-year-olds. In those aged 20-24 years it was 14.5 PY (10.1-20.2) and in those >25 years the crude incidence rate was 11.7 PY (6.9-18.5). Factors significantly associated with admission were a CD4 lymphocyte count <200 cells/uL, adjusted IRR 4.0 (1.8-8.8) and a history of a CDC-C diagnosis, adjusted IRR 2.9 (1.6-5.3). 89% admissions were HIV-related: 45% new/current CDC-C diagnoses, 76% due to infection. CONCLUSIONS: Hospitalisation rates were four-fold higher in adults (>20 years of age) compared to adolescents (10-19-year-olds). The continuing challenges experienced by PaHIV youth require enhanced multidisciplinary support throughout adulthood.


Asunto(s)
Infecciones por VIH , VIH , Adolescente , Adulto , Femenino , Humanos , Masculino , Adulto Joven , Recuento de Linfocito CD4 , Hospitalización , Estudios Retrospectivos , Niño , Población Negra , Pueblos Caribeños , Pueblo Africano
20.
Hum Genet ; 143(5): 635-648, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38536467

RESUMEN

While cholesterol is essential, a high level of cholesterol is associated with the risk of cardiovascular diseases. Genome-wide association studies (GWASs) have proven successful in identifying genetic variants that are linked to cholesterol levels, predominantly in white European populations. However, the extent to which genetic effects on cholesterol vary across different ancestries remains largely unexplored. Here, we estimate cross-ancestry genetic correlation to address questions on how genetic effects are shared across ancestries. We find significant genetic heterogeneity between ancestries for cholesterol traits. Furthermore, we demonstrate that single nucleotide polymorphisms (SNPs) with concordant effects across ancestries for cholesterol are more frequently found in regulatory regions compared to other genomic regions. Indeed, the positive genetic covariance between ancestries is mostly driven by the effects of the concordant SNPs, whereas the genetic heterogeneity is attributed to the discordant SNPs. We also show that the predictive ability of the concordant SNPs is significantly higher than the discordant SNPs in the cross-ancestry polygenic prediction. The list of concordant SNPs for cholesterol is available in GWAS Catalog. These findings have relevance for the understanding of shared genetic architecture across ancestries, contributing to the development of clinical strategies for polygenic prediction of cholesterol in cross-ancestral settings.


Asunto(s)
Colesterol , Estudio de Asociación del Genoma Completo , Herencia Multifactorial , Polimorfismo de Nucleótido Simple , Humanos , Colesterol/sangre , Colesterol/genética , Herencia Multifactorial/genética , Población Blanca/genética , Pueblo Europeo , Pueblo Africano , Personas del Sur de Asia
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