-
American Journal of Human Genetics Jul 2012Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that is often encountered in both...
Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that is often encountered in both population-based and family-based GWASs is that of identifying cryptic relatedness and population stratification because it is well known that failure to appropriately account for both pedigree and population structure can lead to spurious association. A number of methods have been proposed for identifying relatives in samples from homogeneous populations. A strong assumption of population homogeneity, however, is often untenable, and many GWASs include samples from structured populations. Here, we consider the problem of estimating relatedness in structured populations with admixed ancestry. We propose a method, REAP (relatedness estimation in admixed populations), for robust estimation of identity by descent (IBD)-sharing probabilities and kinship coefficients in admixed populations. REAP appropriately accounts for population structure and ancestry-related assortative mating by using individual-specific allele frequencies at SNPs that are calculated on the basis of ancestry derived from whole-genome analysis. In simulation studies with related individuals and admixture from highly divergent populations, we demonstrate that REAP gives accurate IBD-sharing probabilities and kinship coefficients. We apply REAP to the Mexican Americans in Los Angeles, California (MXL) population sample of release 3 of phase III of the International Haplotype Map Project; in this sample, we identify third- and fourth-degree relatives who have not previously been reported. We also apply REAP to the African American and Hispanic samples from the Women's Health Initiative SNP Health Association Resource (WHI-SHARe) study, in which hundreds of pairs of cryptically related individuals have been identified.
Topics: Black or African American; Asian People; Female; Genome, Human; Genome-Wide Association Study; HapMap Project; Hispanic or Latino; Humans; Indians, North American; Male; Pedigree; Polymorphism, Single Nucleotide; Population Groups; Statistics as Topic; White People
PubMed: 22748210
DOI: 10.1016/j.ajhg.2012.05.024 -
International Journal of Legal Medicine May 2024The anterior nasal spine is a pointed, midline projection of the maxilla. This bony structure dictates the overlying soft tissues providing the phenotypic features of...
INTRODUCTION
The anterior nasal spine is a pointed, midline projection of the maxilla. This bony structure dictates the overlying soft tissues providing the phenotypic features of the nose and upper lip and determines the differences in the mid-face morphology. Little data is available on the metric features of the Anterior nasal spine (ANS). This study aimed to perform metric evaluations of the ANS of white and black South African males and females to ascertain if morphological variations exist and if the differences are viable for the use in sex and population identification.
MATERIALS AND METHODS
The sample included 100 CBCT images for each population and sex group. Linear and angular measurements of the ANS were recorded in both the sagittal and axial planes.
RESULTS
Classification decision trees (pruned) were fitted to ascertain the relationship between population group, sex and the ANS measurements including and excluding age. For population group, all the ANS measurements were statistically significant for females but in males, all the ANS measurements were significant when performed individually. However, when fitted to the classification tree, Sagittal 2 did not show any statistical significance. When considering sex, only 2 of the ANS measurements (Sagittal 2 and Axial 1) were found to be significant. The results did not differ significantly when comparing the decision trees including and excluding age.
CONCLUSIONS
White South African individuals presented with a longer ANS that produced a more acute angle whereas black South African individuals presented with a shorter ANS and a more obtuse angle. Additionally, males presented with a longer ANS compared to females. ANS measurements were found to be more relevant for population discernment than for sex.
Topics: Male; Female; Humans; South Africa; Population Groups; Cone-Beam Computed Tomography; Maxilla; Nose
PubMed: 38010514
DOI: 10.1007/s00414-023-03130-x -
Translational Behavioral Medicine Jul 2022South Asians are among the fastest growing ethnic group in the USA yet remain understudied in epidemiologic studies. Due to their unique disease profile, identifying...
South Asians are among the fastest growing ethnic group in the USA yet remain understudied in epidemiologic studies. Due to their unique disease profile, identifying risk moderators and mitigators, such as dietary patterns and food intake, will help to determine the diet-disease relationship that is specific to this largely immigrant population group in the USA. The aim of this commentary is to highlight the dietary traditions and acculturated practices experienced by South Asians in the USA with a call for a diet assessment instrument that adequately captures their dietary diversity. Specifically, we call for (i) the inclusion of traditional food items, such as herbs and spices, that individualize diet assessment for participants; and (ii) leveraging technology that will enhance the experience of diet assessment for both researchers and participants, tailoring the collection of habitual dietary intake in this diverse population group.
Topics: Humans; Diet; Asian People; Eating; Ethnicity; Risk Factors; Technology
PubMed: 35674338
DOI: 10.1093/tbm/ibac020 -
Journal of Preventive Medicine and... Mar 2022The study aims to identify recurrent multimorbidity pattern among individuals in the age-group 15-64 years. Further, the study examines the association of these...
BACKGROUND
The study aims to identify recurrent multimorbidity pattern among individuals in the age-group 15-64 years. Further, the study examines the association of these identified patterns with sociodemographic variables and selected health outcomes.
METHODS
The study utilized data on 2912 individuals in the age-group 15-64 years collected under the burden of diseases study among patients attending public health care settings of Odisha. A latent class analysis was used to identify commonly occurring disease clusters.
RESULTS
The findings suggested that 2.4% of the individuals were multimorbid. Two latent disease clusters were identified, low co-morbidity and Hypertension-Diabetes-Arthritis. Findings highlighted that age, belonging to a non-aboriginal ethnicity and urban area increased the risk of being in the 'Hypertension-Diabetes-Arthritis' group. Furthermore, 50% of the individual in the 'Hypertension-Diabetes-Arthritis' group reported poor quality of life, whereas 30% reported poor self-rated health compared to only 11% by their counterparts. Additionally, the mean health score reported by the individuals in the 'Hypertension-Diabetes-Arthritis' group was 39.9 compared to 46.9 by their counterparts.
CONCLUSIONS
The study findings hint towards increasing burden of multimorbidity among the working age population, which depicts a shift in causation of diseases as a result of which preventive measures also need to be taken much prior.
Topics: Adolescent; Adult; Arthritis; Chronic Disease; Diabetes Mellitus; Humans; Hypertension; Middle Aged; Multimorbidity; Outcome Assessment, Health Care; Population Groups; Quality of Life; Young Adult
PubMed: 35647382
DOI: 10.15167/2421-4248/jpmh2022.63.1.2303 -
International Journal of Environmental... Aug 2022Tailored obesity management includes understanding physical activity (PA) and its context, ideally in childhood before the onset of health risk. This cross-sectional...
Tailored obesity management includes understanding physical activity (PA) and its context, ideally in childhood before the onset of health risk. This cross-sectional study determined, by sex and population, the PA of Southern African pre-adolescent urban primary school children. PA was measured objectively (step count: pedometer) and subjectively (Physical Activity Questionnaire for Older Children [PAQ-C]), taking confounders (phenotype, school-built environment, and socio-economic environment) into account. Body composition was measured with multifrequency bioelectrical impedance analysis (Seca mBCA). PA was adjusted for phenotypic confounders (body size and composition) using multivariate regression. Sex and population differences in PA were determined with two-way ANOVA. Ninety-four healthy pre-adolescents (60% girls, 52% black) with a similar socio-economic status and access to PA participated. Amidst phenotypic differences, average steps/day in girls (10,212) was lower than in boys (11,433) (p = 0.029), and lower in black (9280) than in white (12,258) (p < 0.001) participants. PAQ-C scores (5-point rating) were lower for girls (2.63) than boys (2.92) (p < 0.001) but higher for black (2.89) than white (2.58) (p < 0.001) participants. Objective and subjective measurements were, however, not significantly (r = −0.02; p = 0.876) related and PAQ-C failed to identify reactive changes in the step count. Objectively measured PA of black participants and of girls was consistently lower than for white participants and boys. Target-group specific interventions should therefore be considered.
Topics: Actigraphy; Body Composition; Cross-Sectional Studies; Exercise; Humans; Population Groups
PubMed: 36011543
DOI: 10.3390/ijerph19169912 -
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 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 -
Genetics in Medicine : Official Journal... May 2013Greater clinical validity and economic feasibility are driving the more widespread use of multiplex genetic technologies in routine clinical care, especially for... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
Greater clinical validity and economic feasibility are driving the more widespread use of multiplex genetic technologies in routine clinical care, especially for applications in pharmacogenomics. Empirical data on the numbers and types of incidental findings generated through such testing are needed to develop policies and practices related to their clinical use. Of particular importance are disparities in findings relevant to different ancestry groups.
METHODS
The Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment Resource, or PREDICT, is an institutional program to implement prospective clinical genotyping of 34 pharmacogenomic-related genes to guide drug selection and dosing. We curated 5,566 journal articles to quantify and characterize the incidental, non-pharmacogenomic genotype-phenotype associations that could be generated through this clinical genotyping project.
RESULTS
We identified 372 putative incidental genotype-phenotype associations that might be revealed in patients undergoing clinical genotyping for pharmacogenomic purposes. Of these, 287 associations were supported by at least one study demonstrating an odds ratio ≥2.0 or ≤0.5. Numbers of potentially relevant findings varied widely by ancestry group.
CONCLUSION
Rigorous clinical policies for the clinical management of incidental findings are needed because the sheer number of significant findings could prove overwhelming to health-care institutions, providers, and patients.
Topics: Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Genomics; Humans; Incidental Findings; Odds Ratio; Pharmacogenetics; Population Groups
PubMed: 23196672
DOI: 10.1038/gim.2012.147 -
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