19 research outputs found

    High-depth African genomes inform human migration and health

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    The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed1. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic’ in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health

    High-depth African genomes inform human migration and health

    Get PDF
    The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed1. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic’ in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health

    The Main Patterns in the Trend Change of Stomach Cancer Incidence amongst Selected African Countries

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    Aim. The current study aimed to investigate the trend changes of stomach cancer incidence amongst African countries and identify the main patterns. Methods. The annual reports of stomach cancer incidence rate (per 100,000 people) for males and females in 53 African countries from 1990 to 2016 were maintained from the World Health Organization archive. The growth mixture model was used for fitting the models in Mplus 7.4. The estimated linear trend in each pattern was characterized by intercept (the rate at 1990) and slope (the observed biennial trend changes), and finally, each country was grouped into a cluster with the most similar pattern. Results. Three main patterns for males and two main patterns for females were determined. For males, the first cluster, containing Cape Verde, Central African Republic, and Mauritius, showed a sharp fall, while countries in the second pattern including Algeria, Cote d'Ivoire, Egypt, Gambia, Libya, Malawi, Morocco, Namibia, Nigeria, and Tunisia were categorized in a pattern with a slight decrease, and other 43 countries were in the third pattern with a moderate falling trend. For females, 19 countries including Angola, Botswana, Burundi, Cape Verde, Central African Republic, Congo Republic, Equatorial Guinea, Ethiopia, Gabon, Kenya, Mali, Mauritius, Rwanda, Sao Tome and Principe, Sudan, Swaziland, Uganda, Zambia, and Zimbabwe were categorized in the moderate-to-high falling pattern, but the other 34 countries had a gentle downward pattern. Conclusion. Although most of the observed trends of stomach cancer were falling, only a few countries had experienced a favorable decreasing trend (three countries in male incidence and nineteen countries in female incidence). Therefore, taking effective actions to accelerate the observed falling trends seems necessary

    Analysis of Erythrocyte Invasion Mechanisms of Plasmodium falciparum Clinical Isolates Across 3 Malaria-Endemic Areas in Ghana.

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    BACKGROUND: Plasmodium falciparum invades human erythrocytes by using an array of ligands that interact with several receptors, including sialic acid (SA), complement receptor 1 (CR1), and basigin. We hypothesized that in malaria-endemic areas, parasites vary invasion pathways under immune pressure. Therefore, invasion mechanisms of clinical isolates collected from 3 zones of Ghana with different levels of endemicity (from lowest to highest, Accra, Navrongo, and Kintampo) were compared using standardized methods. METHODS: Blood samples were collected from children aged 2-14 years in whom malaria was diagnosed, and erythrocyte invasion phenotypes were determined using the enzymes neuraminidase, chymotrypsin, and trypsin, which differentially cleave receptors from the erythrocyte surface. In addition, antibodies against CR1 and basigin were used to determine the contributions of these receptors to invasion. Gene expression levels of P. falciparum invasion ligands were also examined. RESULTS: The parasites generally expressed SA-independent invasion phenotypes across the malaria-endemic areas, with parasites from Kintampo showing the highest invasion rates in neuraminidase-treated erythrocytes. CR1 was a major mediator of SA-independent invasion, while basigin was essential for both SA-dependent and SA-independent invasion mechanisms. Furthermore, expression of the basigin ligand PfRh5 was the best predictor of donor parasitemia. CONCLUSIONS: Erythrocyte invasion phenotypes expressed by P. falciparum are influenced by endemicity levels, and the PfRh5-basigin pathway is a potential vaccine target

    Non-HDL-C and LDL-C/HDL-C are associated with self-reported cardiovascular disease in a rural West African population: Analysis of an array of lipid metrics in an AWI-Gen sub-study

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    Few studies have compared the utility of serum levels of lipid fractions in cardiovascular disease (CVD) risk assessment in sub-Saharan Africa (SSA). The current study interrogated this question among men and women aged 40–60 years in rural northern Ghana. This was a cross-sectional study in which data was collected on socio-demography, behaviour, health history, anthropometry and lipid levels. Adjusted multivariable logistic regression models were used to assess the association of various lipid metrics with CVD. All tests were considered statistically significant at P<0.05. Data were available for 1839 participants. The prevalence of self-reported CVD was 1.6% (n = 29). Non-HDL-C (median (interquartile range): 2.4 (1.9–3.0) vs 2.0 (1.6–2.5) mmol/L; P = 0.009), LDL-C/HDL-C (1.8 (1.4–2.4) vs 1.5 (1.1–2.6); P = 0.019) and TC/HDL-C (3.3 (2.9–3.9) vs 2.9 (2.4–3.5); P = 0.003) were all significantly higher in participants with self-reported CVD compared to those without. However, after adjusting for socioeconomic status (SES) and meals from vendors in a logistic regression model, only non-HDL-C (odds ratio [95% CIs]): (1.58 [1.05, 2.39]), P = 0.029 and LDL-C/HDL-C levels (odds ratio [95% CIs]): (1.26 [1.00, 1.59]), P = 0.045 remained significantly associated with self-reported CVD. While our findings suggest non-HDL-C and LDL-C/HDL-C measures may be appropriate biomarkers for assessing CVD risk in this population, further studies using established clinical endpoints are required to validate these findings in sub-Saharan Africans

    Socio-demographic and behavioural determinants of body mass index among an adult population in rural Northern Ghana: the AWI-Gen study

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    Background: Obesity and associated cardiometabolic diseases are increasing in urban sub-Saharan Africa due to a complex epidemiological and nutritional transition. Related data on rural communities is scarce. Objectives: The study characterized the socio-demographic and behavioural factors influencing body mass index (BMI) among adults in rural Northern Ghana Methods: A population-based cross-sectional study involving adults aged 40–60 years residing in the Kassena-Nankana districts was undertaken. Demographic, socio-economic and behavioural data were collected along with measures of anthropometry. We determined factors associated with BMI among women and men. Results: A total of 2014 adults were studied. The median age was 51 (IQR 45–57) years and 54% were women. The prevalence of overweight/obesity was higher among women than men (18.4% vs. 7.2%; p < 0.001), whilst underweight was more prevalent in men (18.3% vs. 13.1%; p = 0.001). Participants with the highest level of education and a high household socio-economic status had higher BMIs than those in the lowest strata in both men (β = 0.074, p = 0.028 and β = 0.072, p < 0.001, respectively) and women (β = 0.174, p = 0.001 and β = 0.109, p < 0.001, respectively). Men (β = −0.050; p < 0.001) and women (β = −0.073; p < 0.001) of the Nankana ethnic group had a lower BMI than the Kassena ethnic group. Among men, alcohol consumption (β = −0.021; p = 0.001) and smoking (β = −0.216; p < 0.001) were associated with lower BMI. Smokeless tobacco was associated with lower BMI among women. Pesticide exposure was associated with higher BMI (β = 0.022; p = 0.022) among men. Conclusion: Age, sex, ethno-linguistic group and prevailing socio-demographic and behavioural factors within this rural community in Northern Ghana influence BMI. The observed positive association between pesticide use and BMI warrants further investigation

    Blood Pressure Indices and Associated Risk Factors in a Rural West African Adult Population: Insights from an AWI-Gen Substudy in Ghana

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    Systolic (SBP) and diastolic blood pressure (DBP) are commonly used for cardiovascular disease (CVD) risk prediction, and pulse pressure (PP) and mean arterial blood pressure (MAP) can provide additional information. It is therefore important to understand the factors associated with these cardiovascular risk markers. This cross-sectional study involved 1839 men and women aged 40–60 years. Data on SBP, DBP, MAP, PP, sociodemography, lifestyle, anthropometry, and lipids were collected. Gender-stratified linear regression analyses were performed to determine the association between log-transformed blood pressure indices and the study variables. Age was associated with all measured blood pressure indices (p<0.001) among men and women. Men had higher SBP (p=0.007) and PP (p<0.001) than women. Nankana ethnicity was associated with higher PP levels (p<0.005) in the total population. Vendor meal consumption among women was associated with higher PP levels (p<0.05). Fruit intake among men was associated with lower PP levels (p<0.05). Currently unmarried women had higher SBP (p<0.005), DBP (p<0.05), MAP (p<0.005), and PP (p<0.005) than currently married women. Pesticide exposure was negatively associated with SBP (p<0.005), DBP (p<0.005), MAP (p<0.005), and PP (p<0.05) among women. Increased subcutaneous fat was associated with DBP (p<0.005) and MAP (p<0.05) among women. Among men, hip circumference was associated with higher DBP and MAP (p<0.05 for both associations), subcutaneous fat associated with higher SBP (p<0.005), DBP (p<0.001), and MAP (p<0.001) and visceral fat was associated with higher PP (p<0.05). In the total population, visceral fat was associated with higher DBP (p<0.05) and MAP (p<0.001). High-density lipoprotein cholesterol was positively associated with SBP (p<0.005), DBP (p<0.005), and MAP (p<0.001) for women and positively associated with SBP, DBP, and MAP (p<0.001 for all three) and PP (p<0.05) for men. The association of blood pressure indices with modifiable risk factors suggests that targeted health interventions may reduce CVD risk in this population

    Socio-demographic and behavioural determinants of body mass index among an adult population in rural Northern Ghana : the AWI-Gen study

    No full text
    Background: Obesity and associated cardiometabolic diseases are increasing in urban sub-Saharan Africa due to a complex epidemiological and nutritional transition. Related data on rural communities is scarce. Objectives: The study characterized the socio-demographic and behavioural factors influencing body mass index (BMI) among adults in rural Northern Ghana Methods: A population-based cross-sectional study involving adults aged 40–60 years residing in the Kassena-Nankana districts was undertaken. Demographic, socio-economic and behavioural data were collected along with measures of anthropometry. We determined factors associated with BMI among women and men. Results: A total of 2014 adults were studied. The median age was 51 (IQR 45–57) years and 54% were women. The prevalence of overweight/obesity was higher among women than men (18.4% vs. 7.2%; p < 0.001), whilst underweight was more prevalent in men (18.3% vs. 13.1%; p = 0.001). Participants with the highest level of education and a high household socio-economic status had higher BMIs than those in the lowest strata in both men (β = 0.074, p = 0.028 and β = 0.072, p < 0.001, respectively) and women (β = 0.174, p = 0.001 and β = 0.109, p < 0.001, respectively). Men (β = −0.050; p < 0.001) and women (β = −0.073; p < 0.001) of the Nankana ethnic group had a lower BMI than the Kassena ethnic group. Among men, alcohol consumption (β = −0.021; p = 0.001) and smoking (β = −0.216; p < 0.001) were associated with lower BMI. Smokeless tobacco was associated with lower BMI among women. Pesticide exposure was associated with higher BMI (β = 0.022; p = 0.022) among men. Conclusion: Age, sex, ethno-linguistic group and prevailing socio-demographic and behavioural factors within this rural community in Northern Ghana influence BMI. The observed positive association between pesticide use and BMI warrants further investigation
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