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Genetic determinants and absence of breast cancer in Xavante Indians in Sangradouro Reserve, Brazil.Scientific Reports Jan 2023Genetic compositions of distinct human populations are different. How genomic variants influence many common and rare genetic diseases is always of great medical and...
Genetic compositions of distinct human populations are different. How genomic variants influence many common and rare genetic diseases is always of great medical and anthropological interest, and understanding of genetic architectures of population groups in relation to diseases can advance our knowledge of medicine. Here, we have studied the genomic architecture of a group of Xavante Indians, an indigenous population in Brazil, and compared them with normal populations from the 1000 Genomes Projects. Principal component analysis (PCA) indicates that the Xavante Indians are genetically distinctive when compared to other ethnic groups. No incidence of breast cancer cases has ever been reported in the population, and polygenic risk analysis indicates extremely low breast cancer risk in this population when compared with germline TCGA (The Cancer Genome Atlas) breast cancer normal control samples. Low germinal mutation burden among this population is also observed. Our findings will help to deepen the understanding of breast cancer and might also provide new approaches to study the disease.
Topics: Female; Humans; Anthropology; Brazil; Breast Neoplasms; Ethnicity; Indians, South American
PubMed: 36702877
DOI: 10.1038/s41598-023-28461-y -
Circulation Aug 2021
Topics: Asian People; Black People; Humans
PubMed: 34247493
DOI: 10.1161/CIRCULATIONAHA.121.055159 -
BMC Genomics Nov 202217 Y-chromosomal STRs which are part of the Yfiler Amplification Kit were investigated in 493 unrelated Pakistani individuals belonging to the Punjabi, Sindhi, Baloch,...
17 Y-chromosomal STRs which are part of the Yfiler Amplification Kit were investigated in 493 unrelated Pakistani individuals belonging to the Punjabi, Sindhi, Baloch, and Pathan ethnic groups. We have assessed the forensic parameters and population genetic structure for each group. Among the 493 unrelated individuals from four ethnic groups (128 Baloch, 122 Pathan, 108 Punjabi, and 135 Sindhi), 82 haplotypes were observed with haplotype diversity (HD) of 0.9906 in Baloch, 102 haplotypes with HD value of 0.9957 in Pathans, 80 haplotypes with HD value of 0.9924 in Punjabi, and 105 haplotypes with HD value of 0.9945 in the Sindhi population. The overall gene diversity for Baloch, Pathan, Punjabi, and Sindhi populations was 0.6367, 0.6479, 0.6657, and 0.6112, respectively. The results had shown us that Pakistani populations do not have a unique set of genes but share the genetic affinity with regional (Central Asia and Northern India) populations. The observed low gene diversity (heterozygosity) values may be because of endogamy trends and this observation is equally supported by the results of forensic parameters which are mostly static across 4 combinations (minimal STRs, extended 11 Y-STRs, Powerplex 12 Y System, and Yfiler 17 Y-STRs) of STRs in these four populations.
Topics: Humans; Ethnicity; Pakistan; Haplotypes; Asian People; Genetic Variation
PubMed: 36451116
DOI: 10.1186/s12864-022-09028-z -
BMC Infectious Diseases Jul 2023Hepatitis B virus (HBV) epidemiology in Europe differs by region and population risk group, and data are often incomplete. We estimated chronic HBV prevalence as...
BACKGROUND
Hepatitis B virus (HBV) epidemiology in Europe differs by region and population risk group, and data are often incomplete. We estimated chronic HBV prevalence as measured by surface antigen (HBsAg) among general and key population groups for each country in the European Union, European Economic Area and the United Kingdom (EU/EEA/UK), including where data are currently unavailable.
METHODS
We combined data from a 2018 systematic review (updated in 2021), data gathered directly by the European Centre for Disease Control (ECDC) from EU/EEA countries and the UK and further country-level data. We included data on adults from the general population, pregnant women, first time blood donors (FTBD), men who have sex with men (MSM), prisoners, people who inject drugs (PWID), and migrants from 2001 to 2021, with three exceptions made for pre-2001 estimates. Finite Mixture Models (FMM) and Beta regression were used to predict country and population group HBsAg prevalence. A separate multiplier method was used to estimate HBsAg prevalence among the migrant populations within each country, due to biases in the data available.
RESULTS
There were 595 included studies from 31 countries (N = 41,955,969 people): 66 were among the general population (mean prevalence ([Formula: see text]) 1.3% [range: 0.0-7.6%]), 52 among pregnant women ([Formula: see text]1.1% [0.1-5.3%]), 315 among FTBD ([Formula: see text]0.3% [0.0-6.2%]), 20 among MSM ([Formula: see text]1.7% [0.0-11.2%]), 34 among PWID ([Formula: see text]3.9% [0.0-16.9%]), 24 among prisoners ([Formula: see text]2.9% [0.0-10.7%]), and 84 among migrants ([Formula: see text]7.0% [0.2-37.3%]). The FMM grouped countries into 3 classes. We estimated HBsAg prevalence among the general population to be < 1% in 24/31 countries, although it was higher in 7 Eastern/Southern European countries. HBsAg prevalence among each population group was higher in most Eastern/Southern European than Western/Northern European countries, whilst prevalence among PWID and prisoners was estimated at > 1% for most countries. Portugal had the highest estimated prevalence of HBsAg among migrants (5.0%), with the other highest prevalences mostly seen in Southern Europe.
CONCLUSIONS
We estimated HBV prevalence for each population group within each EU/EAA country and the UK, with general population HBV prevalence to be < 1% in most countries. Further evidence is required on the HBsAg prevalence of high-risk populations for future evidence synthesis.
Topics: Pregnancy; Adult; Male; Humans; Female; European Union; Hepatitis B virus; Population Groups; Homosexuality, Male; Prevalence; Hepatitis B Surface Antigens; Substance Abuse, Intravenous; Sexual and Gender Minorities; United Kingdom; Europe
PubMed: 37430220
DOI: 10.1186/s12879-023-08433-3 -
Roczniki Panstwowego Zakladu Higieny 2021Overweight and obesity are defined as abnormal or excessive fat accumulation that may impair health. Obesity is associated with many chronic diseases, including...
BACKGROUND
Overweight and obesity are defined as abnormal or excessive fat accumulation that may impair health. Obesity is associated with many chronic diseases, including cardiovascular disease and diabetes, and recently the role of overweight and obesity in lung disease has received new interest. Chronic obstructive lung disease is the third-leading cause of death globally, and both obesity and diet appear to play roles in its pathophysiology. Cross-sectional studies have demonstrated an inverse association between obesity and the prevalence of chronic obstructive pulmonary disease (COPD).
OBJECTIVE
Objective. This study aims to evaluate the relationship between smoking, lipid profile and obesity (body composition changes) in a selected groups of population (30 non-smokers, 30 smokers and 60 COPD patients).
MATERIAL AND METHODS
We evaluated fat mass, fat free mass, body mass index and lipid profile in a group of 120 randomly selected probands (60 COPD patients; 30 smokers without COPD; 30 non-smokers without COPD) to identify possible negative relationships of smoking to body composition. To the measurement of fat mass (FM) and fat free mass (FFM) was used a device Bodystat Quadscan 4000 (Bodystat Ltd, British Isles). The device works by using four-frequency bioelectrical impedance analysis. Laboratory parameters as total cholesterol (T-C), high-density cholesterol (HDL-C), low-density cholesterol (LDL-C) and triacylglycerols (TG) were investigated by automated clinical chemistry analyzer LISA 200th. The measured values were statistically processed and evaluated in a statistical program STATISTICA Cz. Version 7.1. (Kruskall-Wallis test).
RESULTS
A comparison of the mean fat mass we found statistically highly significant differences between the group of COPD patients and non-smokers (P <0.001) and insignificant differences (P ≥ 0.05) between the other groups of our experiment. A comparison of the mean fat mass values of all three groups of the experiment shows a steady increase in fat from non-smokers (17.66 ± 10.04 kg) to COPD patients with the highest mean value (25.08 ± 10.14 kg). In the group of COPD patients we recorded the lowest average value of FFM (51.76 ± 13.84 kg), in group of smokers the middle (56.06 ± 10.76 kg) and in non-smokers the highest average value of FFM (59.91 ± 9.90 kg) at relatively the same body weight in the groups. Based on calculated body mass index (BMI), we found in group of COPD patients overweight in 15 cases (25%), obesity in 7 patients (11.67%), severe obesity in 14 patients (23.3%) and morbid obesity in 2 patients (3.33%); in the group of smokers overweight in 16 cases (53.33%), obesity in 5 cases (16.6%) and severe obesity in 1 case (3.33%); in non-smokers we recording overweight in 14 cases (46.67%), obesity in 5 cases (16.67%) and severe obesity in 2 cases (6.67%). In the lipid profile of the monitored groups of probands, we observed statistically significant differences only for LDL cholesterol (LDL-C). There was a statistically significant difference (P <0.001) between the group with COPD and smokers, as well as between the group of smokers and non-smokers (P < 0.05).
CONCLUSIONS
In the vast majority of patients with COPD, the lung damage that leads to COPD is caused by long-term cigarette smoking. The presence and absence of risk factors such as smoking, inappropriate lipid profile and obesity (amount of fat mass) in selected population groups were observed. Additional studies to explore both the quantitative and qualitative changes in body composition with disease process of COPD are required.
Topics: Body Composition; Body Mass Index; Cross-Sectional Studies; Humans; Obesity; Population Groups; Smoking
PubMed: 34553883
DOI: 10.32394/rpzh.2021.0173 -
Forensic Science International. Genetics Nov 2023The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic...
The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process data of ancestry informative markers (AIMs), which are selected based on large allele frequency differences between the populations of interest. However, population assignments of individuals with an admixed genetic background are challenging. Admixed individuals are genetic mosaics of chromosomal segments from the parental populations, which may lead to ambiguous or no population assignment. This is problematic since admixture events are a substantial part of human history. In this study, we present challenges of interpreting the evidential weight of population assignments. We used Genogeographer for likelihood ratio (LR) calculations and Brazilians as examples of admixed individuals. Brazilians are a very heterogenous population representing a three-way admixture between Native Americans, Europeans, and Africans. Ancestry informative markers were typed in a total of 589 individuals from Brazil using the Precision ID Ancestry Panel. The Brazilians were assigned to six metapopulations (East Asia, Europe, Middle East, North Africa, South-Central Asia, Sub-Saharan Africa) defined in the Genogeographer software and LRs were calculated if the AIM profile was not an outlier in all metapopulations and simulated two-way (1:1) admixtures of the six metapopulations. Population assignments failed for 55% of the samples. These samples had significantly higher genetic contributions from East Asia, South-Central Asia and Sub-Saharan Africa, and significantly lower genetic contributions from Europe. Most of the individuals with population assignments were assigned to the metapopulations of Middle East (58%) or North Africa (36%), followed by Europe (4%), South-Central Asia (1%), and Sub-Saharan Africa (1%). For 8% of the samples, population assignments were only possible when assignments to simulated two-way (1:1) admixtures of the six metapopulations were considered. Most of these individuals were assigned to two-way admixtures of North Africa, South-Central Asia, or Sub-Saharan Africa. Relatively low median likelihood ratios (LRs<1000) were observed when comparing population likelihoods for Europe, Middle East, North Africa, South-Central Asia, or simulated 1:1 admixtures of these metapopulations. Comparisons including East Asian or Sub-Saharan African populations resulted in larger median LRs (LR>10). The results suggested that the Precision ID Ancestry Panel provided too little information and that additional markers specifically selected for sub-continental differentiation may be required for accurate population assignment of admixed individuals. Furthermore, a Genogeographer database with additional populations including admixed populations would be advantageous for interpretation of admixed AIM profiles. It would likely increase the number of population assignments and illustrate alternatives to the most likely population, which would be valuable information for the case officer when writing the case report.
Topics: Humans; Brazil; Gene Frequency; Genetics, Population; Polymorphism, Single Nucleotide; Population Groups
PubMed: 37713981
DOI: 10.1016/j.fsigen.2023.102934 -
Preventing Chronic Disease Jun 2023Although current cigarette smoking among US adults decreased from 42.4% in 1965 to 12.5% in 2020, prevalence is higher among certain racial and ethnic groups, including...
INTRODUCTION
Although current cigarette smoking among US adults decreased from 42.4% in 1965 to 12.5% in 2020, prevalence is higher among certain racial and ethnic groups, including non-Hispanic American Indian and Alaska Native (AIAN) adults.
METHODS
We examined trends in current cigarette smoking prevalence, population estimates, and relative disparity among US adults (aged ≥18 y) between 2011 and 2020 by using data from the National Health Interview Survey. SAS-callable SUDAAN was used to obtain prevalence and population estimates, and relative disparity was calculated on the basis of findings in the literature. Trends were significant at P < .05.
RESULTS
From 2011 to 2020, linear decreases in prevalence and population estimates were observed for non-Hispanic White (20.6% to 13.3%; 32.1 million to 20.7 million), non-Hispanic Black (19.4% to 14.4%; 5.1 million to 4.0 million), and Hispanic (12.9% to 8.0%; 4.2 million to 3.3 million) adults. For non-Hispanic AIAN adults, prevalence remained around 27%, and a linear increase in the population estimate was observed from 400,000 to 510,000. Relative disparity did not change across racial and ethnic categories.
CONCLUSION
Linear decreases have occurred between 2011 and 2020 for non-Hispanic White, non-Hispanic Black, and Hispanic adults who smoke, but the number of non-Hispanic AIAN adults who currently smoke has increased by 110,000, and relative disparities persist. To reduce racial and ethnic disparities in smoking, understanding how factors at multiple socioecologic levels impact smoking and helping to inform paths to equitable reach and implementation of tobacco control interventions for all population groups are needed.
Topics: Adult; Humans; Black or African American; Cigarette Smoking; Ethnicity; Hispanic or Latino; United States; White; Health Status Disparities; American Indian or Alaska Native
PubMed: 37262328
DOI: 10.5888/pcd20.220375 -
Psychological Medicine Jan 2023Black, Asian and minority ethnicity groups may experience better health outcomes when living in areas of high own-group ethnic density - the so-called 'ethnic density'...
Effects of ethnic density on the risk of compulsory psychiatric admission for individuals attending secondary care mental health services: evidence from a large-scale study in England.
BACKGROUND
Black, Asian and minority ethnicity groups may experience better health outcomes when living in areas of high own-group ethnic density - the so-called 'ethnic density' hypothesis. We tested this hypothesis for the treatment outcome of compulsory admission.
METHODS
Data from the 2010-2011 Mental Health Minimum Dataset ( = 1 053 617) was linked to the 2011 Census and 2010 Index of Multiple Deprivation. Own-group ethnic density was calculated by dividing the number of residents per ethnic group for each lower layer super output area (LSOA) in the Census by the LSOA total population. Multilevel modelling estimated the effect of own-group ethnic density on the risk of compulsory admission by ethnic group (White British, White other, Black, Asian and mixed), accounting for patient characteristics (age and gender), area-level deprivation and population density.
RESULTS
Asian and White British patients experienced a reduced risk of compulsory admission when living in the areas of high own-group ethnic density [odds ratios (OR) 0.97, 95% credible interval (CI) 0.95-0.99 and 0.94, 95% CI 0.93-0.95, respectively], whereas White minority patients were at increased risk when living in neighbourhoods of higher own-group ethnic concentration (OR 1.18, 95% CI 1.11-1.26). Higher levels of own-group ethnic density were associated with an increased risk of compulsory admission for mixed-ethnicity patients, but only when deprivation and population density were excluded from the model. Neighbourhood-level concentration of own-group ethnicity for Black patients did not influence the risk of compulsory admission.
CONCLUSIONS
We found only minimal support for the ethnic density hypothesis for the treatment outcome of compulsory admission to under the Mental Health Act.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Young Adult; Asian People; Black People; Censuses; England; Ethnicity; Involuntary Commitment; Mental Disorders; Mental Health; Mental Health Services; Minority Groups; Population Density; Risk Assessment; Secondary Care; Treatment Outcome; Datasets as Topic
PubMed: 34011424
DOI: 10.1017/S0033291721001768 -
Human Resources For Health Jul 2020Audiologists and Speech Therapists play a vital role in addressing sustainable development goals by supporting people who are marginalised due to communication...
BACKGROUND
Audiologists and Speech Therapists play a vital role in addressing sustainable development goals by supporting people who are marginalised due to communication challenges. The global burden of disease and poor social living conditions impact negatively on the development of healthy communication, therefore requiring the services of Audiologist and Speech therapists. Against this background, we examined the demographic profile and the supply, need and shortfall of Audiologists and Speech Therapists in South Africa.
METHODS
The data set was drawn from the Health Professions Council of South Africa (HPCSA) registers (for 2002-2017) for the speech, language and hearing professions. This demographic profile of the professions was created based on the category of health personnel; category of practice, geographical location, population group (race) and sex. The annual supply was estimated from the HPCSA database while the service-target approach was used to estimate need. Additional need based on National Health Insurance Bill was also included. Supply-need gaps were forecast according to three scenarios, which varied according to the future intensity of policy intervention to increase occupancy of training places: 'best guess' (no intervention), 'optimistic' (feasible intervention), and 'aspirational' (significant intervention) scenarios up to 2030.
RESULTS
Most (i.e. 1548, 47.4%) of the professionals are registered as Audiologists and Speech Therapists, followed by 33.5% registered as Speech Therapists and 19.1% registered as Audiologists. Around 88.5% professionals registered as Audiologists and Speech Therapists are practising independently, and 42.6% are practising in the Gauteng province. The profession is comprised majorly of women (94.6%), and in terms of the population groups (race), they are mainly classified as white (59.7%). In 2017, in best guess scenario, there is a supply-need gap of around 2800 professionals. In the absence of any intervention to increase supply capacity, this shortfall will remain same by the year 2030. By contrast, in aspirational scenario, i.e. supply is increased by 300%, the forecasted shortfall for 2030 reduces to 2300 from 2800 professionals.
CONCLUSIONS
It is clear that without significant interventions, South Africa is likely to have a critical shortfall of Audiologists and Speech Therapists in 2030. Policy-makers will have to carefully examine issues surrounding the current framework regulating training of these and associated professionals, in order to respond adequately to future requirements.
Topics: Adult; Audiologists; Female; Hearing Loss; Humans; Male; Middle Aged; Needs Assessment; Racial Groups; Residence Characteristics; Sex Distribution; Socioeconomic Factors; South Africa; Speech Therapy
PubMed: 32611357
DOI: 10.1186/s12960-020-00488-6 -
Systematic Reviews Apr 2021Appropriate search strategies are essential to ensure the integrity and reproducibility of systematic and scoping reviews, as researchers seek to capture as many...
BACKGROUND
Appropriate search strategies are essential to ensure the integrity and reproducibility of systematic and scoping reviews, as researchers seek to capture as many relevant resources as possible. In the case of Indigenous health reviews, researchers are met with the special challenge of creating a search strategy that can encompass this large, diverse population group with no universally agreed upon identification criteria.
MAIN BODY
With an aim to promote improved review methodologies that uphold standards of justice, autonomy, and equity for Indigenous peoples and other heterogeneous populations, we describe critical gaps and approaches to close them. We report organizational and transparency issues around how Indigenous populations are indexed in several major databases, and draw on examples of published reviews and protocols to demonstrate the challenges inherent to creating a comprehensive search strategy.
CONCLUSIONS
The conduct and communication of results from health literature research on global Indigenous populations are compromised by challenges of methodology that are rooted in the complexities inherent to defining Indigenous peoples. These challenges must be urgently addressed to improve this important field of inquiry moving forward.
Topics: Humans; Indigenous Peoples; Population Groups; Reproducibility of Results; Review Literature as Topic
PubMed: 33874997
DOI: 10.1186/s13643-021-01664-y