Ventricular restoration in adults with huge congenital left ventricular aneurysm: report of two cases.

Congenital ventricular aneurysms (CVA) are rare cardiac anomalies that have been predominantly described in the Black population. They are characterized by an akinetic ventricular protrusion that is commonly located at the basal and apical segments. Although the diagnosis is often incidental and the majority of patients are asymptomatic, life-threatening events such as persistent ventricular arrhythmias, CVA rupture, and heart failure are not uncommon. However, no standardized therapy is currently available and good outcomes have been reported with both conservative and surgical management. We report the cases of two young Black African patients with huge symptomatic CVA lesions who underwent successful surgical repair with a ventricular restoration technique. Both cases were consulted for chest pain and dyspnea. Chest X-ray and transthoracic Doppler echocardiography suggested the diagnosis. Thoracic angioscanner and thoracic magnetic resonance imaging confirmed the diagnosis. Both patients underwent successful surgery. This case report aims to revisit the diagnostic and therapeutic approach to this rare pathology, in our professional environment.

Baseline levels and longitudinal changes in plasma Aß42/40 among Black and white individuals.

Blood-based biomarkers of Alzheimer disease (AD) may facilitate testing of historically under-represented groups. The Study of Race to Understand Alzheimer Biomarkers (SORTOUT-AB) is a multi-center longitudinal study to compare AD biomarkers in participants who identify their race as either Black or white. Plasma samples from 324 Black and 1,547 white participants underwent analysis with C2N Diagnostics' PrecivityAD test for Aß42 and Aß40. Compared to white individuals, Black individuals had higher average plasma Aß42/40 levels at baseline, consistent with a lower average level of amyloid pathology. Interestingly, this difference resulted from lower average levels of plasma Aß40 in Black participants. Despite the differences, Black and white individuals had similar longitudinal rates of change in Aß42/40, consistent with a similar rate of amyloid accumulation. Our results agree with multiple recent studies demonstrating a lower prevalence of amyloid pathology in Black individuals, and additionally suggest that amyloid accumulates consistently across both groups.

The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics.

Introduction: Pharmacogenetic markers, such as the ATP Binding Cassette (ABCB1) and cytochrome P450 (CYP) 3A5 enzymes, play a crucial role in personalized medicine by influencing drug efficacy and toxicity based on individuals' or populations' genetic variations.This study aims to investigate the genetic polymorphisms of CYP3A5 (rs776746) and ABCB1 (rs1045642) in the West Algerian population and compare the genotypes and allelic distributions with those of various ethnic groups. Methods: The study involved 472 unrelated healthy subjects from the Western Algerian population. DNA genotyping was performed using TaqMan allelic discrimination assay. The variants in our population were compared to those in other ethnic groups available in the 1000 Genomes Project. Genotype and allele frequencies were calculated using the chi-square test and the Hardy-Weinberg equilibrium (HWE). Results: The minor allele frequencies were found to be 0.21 for CYP3A5 6986A and 0.34 for ABCB1 3435T. These frequencies were similar to those observed in North African populations, while notable differences were observed in comparison to certain Caucasian and African populations. Conclusion: The difference in the allelic and genotypic distribution of these polymorphisms emphasize the need for dose adjustments in drugs metabolized by CYP3A5 and transported by ABCB1 to optimize treatments outcomes.

Health of the black population in health training: perspectives towards racial equity. / Saúde da população negra na formação em saúde: perspectivas rumo à equidade racial.

This article aims to understand the view of racial equity and the motivations for approaching the health of the black population in Collective Health, Nursing, and Medicine courses at a Brazilian public university, guided by the black perspective of decoloniality. Considering Institutional Racism, it is necessary to invest in the interfaces between the education and health sectors in the training of professionals for the Unified Health System. This is a qualitative study with an intervention-research approach, affirming a social and political commitment to transforming reality. Workshops were held with representatives of the Structuring Teaching Centers of the selected courses. The theme of the health of the black population has been elaborated in a prompt and decontextualized manner, with no reflection based on structural racism, power relations, and Brazilian socio-historical formation. This creates a distance from the guidelines proposed by the National Policy for Comprehensive Health of the Black Population. At the end of this article, perspectives are identified for the reorientation of health training, aimed at increasing democratic density and racial equity.

Este artigo objetiva compreender a visão de equidade racial e as motivações para a abordagem da saúde da população negra na formação dos cursos de Saúde Coletiva, Enfermagem e Medicina de uma universidade pública brasileira, orientado na perspectiva negra da decolonialidade. Considerando o Racismo Institucional, é preciso investir nas interfaces entre os setores educação e saúde na formação de profissionais para o Sistema Único de Saúde. Trata-se de estudo de natureza qualitativa com abordagem do tipo pesquisa-intervenção, afirmando um compromisso social e político de transformação da realidade. Para tanto, foram realizadas oficinas com representantes dos Núcleos Docentes Estruturantes dos cursos selecionados. A temática da saúde da população negra tem sido trabalhada de forma pontual e descontextualizada, sem uma reflexão do racismo estrutural, das relações de poder e da formação socio-histórica brasileira, o que se distancia das diretrizes propostas pela Política Nacional de Saúde Integral da População Negra. Ao final, são sinalizadas perspectivas para a reorientação da formação em saúde, visando ao aumento da densidade democrática e da equidade racial.

Vulnerabilities mediating the Healthcare encounter: by an intersectional agency. / Vulnerabilidades mediando o encontro do Cuidado em Saúde: por uma agência interseccional.

This essay elucidates the Healthcare and Intersectionality notions to prompt reflections on the interaction between healthcare professionals and individuals referred to as Nanás: elderly, poor, and Black women who represent a historically marginalized profile throughout Brazilian history. By delving into the arguments about the concept of Intersectionality and the multifaceted Care dimensions, it becomes apparent that there is a pressing need to broaden the perspective on women who access healthcare services, as they are inherently shaped by their life experiences. Moreover, it is imperative to acknowledge how the intersecting factors inherent in their profiles can influence the approach taken by those providing Care, which underscores the essentiality of an intersectional agency on the part of the agents involved in this encounter, namely the Nanás and healthcare workers, to effectively uphold the principles of comprehensiveness and equity within the Unified Health System (SUS).

O presente ensaio articula os conceitos de Cuidado em Saúde e Interseccionalidade para suscitar reflexões sobre o encontro entre o/a trabalhador/a de saúde e aquelas que aqui denominamos uma Naná: uma mulher, negra, idosa e periférica, perfil historicamente vulnerabilizado ao longo da história brasileira. Considerando as argumentações que envolvem o conceito de Interseccionalidade e as diferentes vertentes acerca do Cuidado, observamos a necessidade de se ampliar o olhar sobre estas que buscam os serviços de saúde já atravessadas por suas histórias de vida, e ponderar sobre os atravessamentos que seu perfil pode acionar em quem exerce o Cuidado. Aponta ser primordial uma agência interseccional por parte das/os agentes deste encontro, Nanás e profissionais de saúde, para que se concretizem os princípios de integralidade e equidade no Sistema Único de Saúde (SUS).

Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa.

Population history-focused DNA and ancient DNA (aDNA) research in Africa has dramatically increased in the past decade, enabling increasingly fine-scale investigations into the continent's past. However, while international interest in human genomics research in Africa grows, major structural barriers limit the ability of African scholars to lead and engage in such research and impede local communities from partnering with researchers and benefitting from research outcomes. Because conversations about research on African people and their past are often held outside Africa and exclude African voices, an important step for African DNA and aDNA research is moving these conversations to the continent. In May 2023 we held the DNAirobi workshop in Nairobi, Kenya and here we synthesize what emerged most prominently in our discussions. We propose an ideal vision for population history-focused DNA and aDNA research in Africa in ten years' time and acknowledge that to realize this future, we need to chart a path connecting a series of "landmarks" that represent points of consensus in our discussions. These include effective communication across multiple audiences, reframed relationships and capacity building, and action toward structural changes that support science and beyond. We concluded there is no single path to creating an equitable and self-sustaining research ecosystem, but rather many possible routes linking these landmarks. Here we share our diverse perspectives as geneticists, anthropologists, archaeologists, museum curators, and educators to articulate challenges and opportunities for African DNA and aDNA research and share an initial map toward a more inclusive and equitable future.

COVID-19 vaccine mistrust, health literacy, conspiracy theories, and racial discrimination among a representative ethnically diverse sample in Canada: The vulnerability of Arab, Asian, Black, and Indigenous peoples.

Despite increased risk of severe acute respiratory syndrome coronavirus 2 infections and higher rates of COVID-19-related complications, racialized and Indigenous communities in Canada have lower immunization uptake compared to White individuals. However, there is woeful lack of data on predictors of COVID-19 vaccine mistrust (VM) that accounts for diverse social and cultural contexts within specific racialized and Indigenous communities. Therefore, we sought to characterize COVID-19 VM among Arab, Asian, Black, and Indigenous communities in Canada. An online survey was administered to a nationally representative, ethnically diverse panel of participants in October 2023. Arabic, Asian, Indigenous, and Black respondents were enriched in the sampling panel. Data were collected on demographics, COVID-19 VM, experience of racial discrimination, health literacy, and conspiracy beliefs. We used descriptive and regression analyses to determine the extent and predictors of COVID-19 VM among racialized and Indigenous individuals. All racialized respondents had higher VM score compared to White participants. Among 4220 respondents, we observed highest VM among Black individuals (12.18; ±4.24), followed by Arabic (12.12; ±4.60), Indigenous (11.84; ±5.18), Asian (10.61; ±4.28), and White (9.58; ±5.00) participants. In the hierarchical linear regression analyses, Black participants, women, everyday racial discrimination, and major experience of discrimination were positively associated with COVID-19 VM. Effects of racial discrimination were mediated by addition of conspiracy beliefs to the model. Racialized and Indigenous communities experience varying levels of COVID-19 VM and carry specific predictors and mediators to development of VM. This underscores the intricate interaction between race, gender, discrimination, and VM that need to be considered in future vaccination campaigns.

What does the Thinking about Relationalism and Humanness in African Philosophy imply for Different Modes of Being Present in the Metaverse?

In this article, I interrogate whether the deployment and development of the Metaverse should take into account African values and modes of knowing to foster the uptake of this hyped technology in Africa. Specifically, I draw on the moral norms arising from the components of communal interactions and humanness in Afro-communitarianism to contend that the deployment of the Metaverse and its development ought to reflect core African moral values to foster its uptake in the region. To adequately align the Metaverse with African core values and thus foster its uptake among Africans, significant technological advancement that makes simulating genuine human experiences possible must occur. Additionally, it would be necessary for the developers and deployers to ensure that higher forms of spiritual activities can be had in the Metaverse to foster its uptake in Africa. Finally, I justify why the preceding points do not necessarily imply that the Metaverse will have a higher moral status than real life on the moral scale that can be grounded in Afro-communitarianism.

Diagnosis and presenting features of autoimmune hepatitis at a central referral hospital in South Africa.

Introduction Autoimmune hepatitis (AIH) has scarcely been reported on in patients of black African descent. Similarly, few studies have focused on the relationship between AIH and Human-Immunodeficiency Virus (HIV) infection. Aim We aim to describe the presenting features of AIH from a single referral centre in a Sub-Sahara African setting. We also compare the presenting features of HIV-infected and HIV-uninfected patients. Methods This study was a retrospective chart review. Patients were included if they fulfilled criteria for the International AIH Group simplified score for probable or definite AIH, were 18 years or older at inclusion, and attended the adult Gastroenterology clinic at Inkosi Albert Luthuli Central Hospital (IALCH) for the period 1/1/2015 to 31/12/2020 on at least 2 occasions. Results Forty cases were included, of which 33 (82.5%) were female and 33 (82.5%) were black African. Median age at diagnosis was 26 years. A diagnosis of a coexistent autoimmune disease was made in 22.5% of patients, with Systemic Lupus Erythematosus (SLE) being the most common (12.5%). Sixteen patients were HIV-infected, all of whom were female (p =0.03), with a significantly older age of disease onset as compared to their HIV-uninfected counterparts (median age 38 vs 17.5 years, p <0.001). Conclusion AIH is a disease most commonly affecting young females. Female sex and older age of onset is associated with AIH in HIV-infected individuals.

Prostate cancer perspective: Africa versus the world.

Prostate cancer (PCa) is one of the most commonly diagnosed cancers among men, with a rising global incidence. Currently, the PCa landscape is vastly different between developed countries and Africa. Of note, owing to various biological, socioeconomic and institutional factors, black African men often present with more advanced disease and suffer greater mortality. This review will focus on the burden of PCa globally and in Africa, compare the state of the disease in Africa with that in more developed regions of the world, and answer the question why it can sometimes look like a 'different' disease compared with developed regions. In addition, we address the racial disparities of PCa.

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

BACKGROUND: Hereditary breast cancer is characterised by the presence of a pathogenic sequence variant passed from one generation to the next. These cancers are aggressive, develop early, and account for 5 - 10% of all breast cancer cases. In South Africa (SA), the common variants that predispose to hereditary breast cancer have been well documented among white patients and form part of screening panels during targeted testing. For non-white patients, common variants are not well understood, and as such, all populations are offered the same test optimised for white patients. This carries a risk of misdiagnosis, the consequences of which include recurrence and increased mortality. OBJECTIVES: To retrospectively describe genetic trends in the black African and Indian breast cancer patients from KwaZulu-Natal Province, SA. METHODS: We reviewed clinical and genetic data of breast cancer and high-risk patients who consulted at Inkosi Albert Luthuli Central Hospital between 2011 and 2021. Inclusion criteria were based on clinical and demographic characteristics as defined by SA clinical guidelines. RESULTS: Black African patients were young (mean 37.6 years, standard deviation 11.16) and had the majority of triple-negative tumours (37.5%). Indians represented 50% of bilateral breast cancers and of high-risk individuals. We identified 30 pathogenic BRCA1/2 sequence variants, four large genomic rearrangements and 13 variants of unknown significance. Twenty black patients carried 12, 13 white patients carried 4, 25 Indian patients carried 16, and 3 coloured patients carried 3 pathogenic sequence variants. The most frequent variants were BRCA2 c.5771_5774del, p.Ile1924fs among black patients, BRCA2 c.7934del, p.Arg2645fs among white patients, and BRCA2 c.8754+1G>A among Indian patients. None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. CONCLUSION: This study highlights unique genetic trends for SA populations and the need for more inclusive targeted tests that are optimal for these populations.

Trends in Black-White Differences of Antihypertensive Treatment in Individuals With and Without History of Stroke.

BACKGROUND: Recent hypertension guidelines for the general population have included race-specific recommendations for antihypertensives, whereas current stroke-specific recommendations for antihypertensives do not vary by race. The impact of these guidelines on antihypertensive regimen changes over time, and if this has varied by prevalent stroke status, is unclear. METHODS: The use of antihypertensive medications was studied cross-sectionally among self-identified Black and White participants, aged ≥45 years, with and without history of stroke, from the REGARDS study (Reasons for Geographic and Racial Differences in Stroke). Participants completed an in-home examination in 2003-2007 (visit 1) with/without an examination in 2013-2016 (visit 2). Stratified by prevalent stroke status, logistic regression mixed models examined associations between antihypertensive class use for visit 2 versus visit 1 and Black versus White individuals with an interaction adjusted for demographics, socioeconomic status, and vascular risk factors/vital signs. RESULTS: Of 17 244 stroke-free participants at visit 1, Black participants had greater adjusted odds of angiotensin-converting enzyme inhibitor usage than White participants (odds ratio [OR], 1.51 [95% CI, 1.30-1.77]). This difference was smaller in the 7476 stroke-free participants at visit 2 (OR, 1.16 [95% CI, 1.08-1.25]). In stroke-free participants at visit 1, Black participants had lower odds of calcium channel blocker (CCB) usage than White participants (OR, 0.47 [95% CI, 0.41-0.55]), but CCB usage did not differ significantly between Black and White stroke-free participants at visit 2 (OR, 1.02 [95% CI, 0.95-1.09]). Among 1437 stroke survivor participants at visit 1, Black participants had lower odds of CCB use than White participants (OR, 0.34 [95% CI, 0.26-0.45]). In 689 stroke survivor participants at visit 2, CCB use did not differ between Black and White participants (OR, 0.80 [95% CI, 0.61-1.06]). CONCLUSIONS: Racial differences in the use of guideline-recommended antihypertensives decreased between 2003-2007 and 2013-2016 in stroke-free individuals. In stroke survivors, racial differences in CCB usage narrowed over the time periods. These findings suggest there is still a mismatch between race-specific hypertension guidelines and recent clinical practice.

Living and dying between cultural traditions in African & Caribbean Heritage families: a constructivist grounded theory.

BACKGROUND: Ethnic differences influence end-of-life health behaviours and use of palliative care services. Use of formal Advance care planning is not common in minority ethnic heritage communities. Older adults expect and trust their children to be their decision makers at the end of life. The study aim was to construct a theory of the dynamics that underpin end-of-life conversations within families of African and Caribbean heritage. This is a voice not well represented in the current debate on improving end-of-life outcomes. METHODS: Using Charmaz's constructivist grounded theory approach, a purposive sample of elders, adult-children, and grandchildren of African and Caribbean Heritage were recruited. In-person and online focus groups were conducted and analysed using an inductive, reflexive comparative analysis process. Initial and axial coding facilitated the creation of categories, these categories were abstracted to constructs and used in theory construction. RESULTS: Elders (n = 4), adult-children (n = 14), and adult grandchildren (n = 3) took part in 5 focus groups. A grounded theory of living and dying between cultural traditions in African and Caribbean heritage families was created. The constructs are (a) Preparing for death but not for dying (b) Complexity in traditions crosses oceans (c) Living and dying between cultures and traditions (d) There is culture, gender and there is personality (e) Watching the death of another prompts conversations. (f) An experience of Hysteresis. DISCUSSION: African and Caribbean cultures celebrate preparation for after-death processes resulting in early exposure to and opportunities for discussion of these processes. Migration results in reforming of people's habitus/ world views shaped by a mixing of cultures. Being in different geographical places impacts generational learning-by-watching of the dying process and related decision making. CONCLUSIONS: Recognising the impact of migration on the roles of different family members and the exposure of those family members to previous dying experiences is important. This can provide a more empathetic and insightful approach to partnership working between health care professionals and patients and families of minority ethic heritage facing serious illness. A public health approach focusing on enabling adult-children to have better end of life conversations with their parents can inform the development of culturally competent palliative care.

Impact of patrilocality on contrasting patterns of paternal and maternal heritage in Central-West Africa.

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.

Evaluation of the Golden Proportion, Golden Percentage, and Recurring Esthetic Dental Proportion in Kenyans of African Descent.

OBJECTIVES: To evaluate the validity of the Golden Proportion, Golden Percentage, and Recurring Esthetic Dental (RED) Proportion among Kenyans of African descent with naturally well-aligned teeth. MATERIALS AND METHODS: Standardized frontal photographic images of the smiles of 175 participants aged 18-35 years were obtained, and Adobe Photoshop was used to analyze and measure the frontal widths of the maxillary central and lateral incisors and canines in triplicate. The average teeth widths were calculated to determine the existence of the Golden Proportion, Golden Percentage, and RED Proportion, and their validity using independent sample t-tests to compare the differences in the mean teeth widths at α < 0.05. RESULTS: The number of male and female participants was 107 (61.1%) and 68 (38.9%), respectively. The Golden Proportion between the maxillary central and lateral incisors was found in 4.0% on the right and 2.8% on the left of all the participants, but between the maxillary lateral incisors and canines was found in only 0.6% on the right of male participants (p < 0.0001). The RED Proportion between the maxillary lateral and central incisors was in the range of 67%-70%, and between the canines and lateral incisors was 82%-84% (p < 0.0001). The proportion of RED was not constant, and gradually increased distally. The Golden Percentage of 15% was observed in the lateral incisors bilaterally; however, in the central incisors and the canines, the Golden Percentage was 22% and 12%, respectively. CONCLUSION: The Golden and RED Proportions were invalid determinants of anterior teeth proportions. The Golden Percentage existed only in the lateral incisors. The Golden Proportion, RED Proportion, and Golden Percentage theories may not be applicable to all populations when designing smiles. Racial and ethnic backgrounds are important considerations to establish objective quantifiable values of anterior tooth proportions that are beneficial for esthetic restorations.

Improvements in data completeness in health information systems reveal racial inequalities: longitudinal national data from hospital admissions in Brazil 2010-2022.

BACKGROUND: Race and ethnicity are important drivers of health inequalities worldwide. However, the recording of race/ethnicity in data systems is frequently insufficient, particularly in low- and middle-income countries. The aim of this study is to descriptively analyse trends in data completeness in race/color records in hospital admissions and the rates of hospitalizations by various causes for Blacks and Whites individuals. METHODS: We conducted a longitudinal analysis, examining hospital admission data from Brazil's Hospital Information System (SIH) between 2010 and 2022, and analysed trends in reporting completeness and racial inequalities. These hospitalization records were examined based on year, quarter, cause of admission (using International Classification of Diseases (ICD-10) codes), and race/color (categorized as Black, White, or missing). We examined the patterns in hospitalization rates and the prevalence of missing data over a period of time. RESULTS: Over the study period, there was a notable improvement in data completeness regarding race/color in hospital admissions in Brazil. The proportion of missing values on race decreased from 34.7% in 2010 to 21.2% in 2020. As data completeness improved, racial inequalities in hospitalization rates became more evident - across several causes, including assaults, tuberculosis, hypertensive diseases, at-risk hospitalizations during pregnancy and motorcycle accidents. CONCLUSIONS: The study highlights the critical role of data quality in identifying and addressing racial health inequalities. Improved data completeness has revealed previously hidden inequalities in health records, emphasizing the need for comprehensive data collection to inform equitable health policies and interventions. Policymakers working in areas where socioeconomic data reporting (including on race and ethnicity) is suboptimal, should address data completeness to fully understand the scale of health inequalities.

Racial disparities and maternal mortality in Brazil: findings from a national database.

OBJECTIVE: To assess maternal mortality (MM) in Brazilian Black, Pardo, and White women. METHODS: We evaluated the maternal mortality rate (MMR) using data from the Brazilian Ministry of Health public databases from 2017 to 2022. We compared MMR among Black, Pardo, and White women according to the region of the country, age, and cause. For statistical analysis, the Q2 test prevalence ratio (PR) and confidence interval (CI) were calculated. RESULTS: From 2017 to 2022, the general MMR was 68.0/100,000 live births (LB). The MMR was almost twice as high among Black women compared to White (125.81 vs 64.15, PR = 1.96, 95%CI:1.84-2.08) and Pardo women (125.8 vs 64.0, PR = 1.96, 95%CI: 1.85-2.09). MMR was higher among Black women in all geographical regions, and the Southeast region reached the highest difference among Black and White women (115.5 versus 60.8, PR = 2.48, 95%CI: 2.03-3.03). During the covid-19 pandemic, MMR increased in all groups of women (Black 144.1, Pardo 74.8 and White 80.5/100.000 LB), and the differences between Black and White (PR = 1.79, 95%CI: 1.64-1.95) and Black and Pardo (PR = 1.92, 95%CI: 1.77-2.09) remained. MMR was significantly higher among Black women than among White or Pardo women in all age ranges and for all causes. CONCLUSION: Black women presented higher MMR in all years, in all geographic regions, age groups, and causes. In Brazil, Black skin color is a key MM determinant. Reducing MM requires reducing racial disparities.

Rare variants analyses suggest novel cleft genes in the African population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, and Ethiopia. We conducted a gene-based analysis separately for each phenotype using three rare-variants collapsing models: (1) protein-altering (PA), (2) missense variants only (MO); and (3) loss of function variants only (LOFO). Subsequently, we utilized relevant transcriptomics data to evaluate associated gene expression and examined their mutation constraint using the gnomeAD database. In total, 13 genes showed suggestive associations (p = E-04). Among them, eight genes (ABCB1, ALKBH8, CENPF, CSAD, EXPH5, PDZD8, SLC16A9, and TTC28) were consistently expressed in relevant mouse and human craniofacial tissues during the formation of the face, and three genes (ABCB1, TTC28, and PDZD8) showed statistically significant mutation constraint. These findings underscore the role of rare variants in identifying candidate genes for NSOFCs.

Association between Variants of the TRPV1 Gene and Body Composition in Sub-Saharan Africans.

In humans, the transient receptor potential vanilloid 1 (TRPV1) gene is activated by exogenous (e.g., high temperatures, irritating compounds such as capsaicin) and endogenous (e.g., endocannabinoids, inflammatory factors, fatty acid metabolites, low pH) stimuli. It has been shown to be involved in several processes including nociception, thermosensation, and energy homeostasis. In this study, we investigated the association between TRPV1 gene variants, sensory perception (to capsaicin and PROP), and body composition (BMI and bioimpedance variables) in human populations. By comparing sequences deposited in worldwide databases, we identified two haplotype blocks (herein referred to as H1 and H2) that show strong stabilizing selection signals (MAF approaching 0.50, Tajima's D > +4.5) only in individuals with sub-Saharan African ancestry. We therefore studied the genetic variants of these two regions in 46 volunteers of sub-Saharan descent and 45 Italian volunteers (both sexes). Linear regression analyses showed significant associations between TRPV1 diplotypes and body composition, but not with capsaicin perception. Specifically, in African women carrying the H1-b and H2-b haplotypes, a higher percentage of fat mass and lower extracellular fluid retention was observed, whereas no significant association was found in men. Our results suggest the possible action of sex-driven balancing selection at the non-coding sequences of the TRPV1 gene, with adaptive effects on water balance and lipid deposition.