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Circulation. Cardiovascular Quality and... Oct 2020
Topics: Adult; Black or African American; Health Equity; Hispanic or Latino; Humans; White People
PubMed: 33023336
DOI: 10.1161/CIRCOUTCOMES.120.007357 -
PloS One 2012Characterization of population genetic variation and structure can be used as tools for research in human genetics and population isolates are of great interest. The aim...
Characterization of population genetic variation and structure can be used as tools for research in human genetics and population isolates are of great interest. The aim of the present study was to characterize the genetic structure of Xavante Indians and compare it with other populations. The Xavante, an indigenous population living in Brazilian Central Plateau, is one of the largest native groups in Brazil. A subset of 53 unrelated subjects was selected from the initial sample of 300 Xavante Indians. Using 86,197 markers, Xavante were compared with all populations of HapMap Phase III and HGDP-CEPH projects and with a Southeast Brazilian population sample to establish its population structure. Principal Components Analysis showed that the Xavante Indians are concentrated in the Amerindian axis near other populations of known Amerindian ancestry such as Karitiana, Pima, Surui and Maya and a low degree of genetic admixture was observed. This is consistent with the historical records of bottlenecks experience and cultural isolation. By calculating pair-wise F(st) statistics we characterized the genetic differentiation between Xavante Indians and representative populations of the HapMap and from HGDP-CEPH project. We found that the genetic differentiation between Xavante Indians and populations of Ameridian, Asian, European, and African ancestry increased progressively. Our results indicate that the Xavante is a population that remained genetically isolated over the past decades and can offer advantages for genome-wide mapping studies of inherited disorders.
Topics: Brazil; Cross-Sectional Studies; Ethnicity; Genetic Variation; Genetics, Population; HapMap Project; Humans; Indians, South American; Models, Genetic; Polymorphism, Single Nucleotide; Population Groups
PubMed: 22900041
DOI: 10.1371/journal.pone.0042702 -
Correcting for population structure and kinship using the linear mixed model: theory and extensions.PloS One 2013Population structure and kinship are widespread confounding factors in genome-wide association studies (GWAS). It has been standard practice to include principal...
Population structure and kinship are widespread confounding factors in genome-wide association studies (GWAS). It has been standard practice to include principal components of the genotypes in a regression model in order to account for population structure. More recently, the linear mixed model (LMM) has emerged as a powerful method for simultaneously accounting for population structure and kinship. The statistical theory underlying the differences in empirical performance between modeling principal components as fixed versus random effects has not been thoroughly examined. We undertake an analysis to formalize the relationship between these widely used methods and elucidate the statistical properties of each. Moreover, we introduce a new statistic, effective degrees of freedom, that serves as a metric of model complexity and a novel low rank linear mixed model (LRLMM) to learn the dimensionality of the correction for population structure and kinship, and we assess its performance through simulations. A comparison of the results of LRLMM and a standard LMM analysis applied to GWAS data from the Multi-Ethnic Study of Atherosclerosis (MESA) illustrates how our theoretical results translate into empirical properties of the mixed model. Finally, the analysis demonstrates the ability of the LRLMM to substantially boost the strength of an association for HDL cholesterol in Europeans.
Topics: Algorithms; Atherosclerosis; Chromosomes, Human, Pair 8; Computer Simulation; Europe; Genetics, Population; Genome-Wide Association Study; Humans; Linkage Disequilibrium; Models, Genetic; Models, Statistical; Population Groups; White People
PubMed: 24204578
DOI: 10.1371/journal.pone.0075707 -
Aging & Mental Health Aug 2019The current study set out to examine the links between contact frequency with one's social network and cognitive health in later life. It assessed both direct and...
The current study set out to examine the links between contact frequency with one's social network and cognitive health in later life. It assessed both direct and indirect pathways and the possible role of ethnicity in the effect of the social network on cognitive function. We used data from adults aged 50 and above, which was collected in Israel as part of the Survey of Ageing, Retirement and Health (SHARE). A moderated mediation analysis was conducted to test the direct and indirect associations between contact frequency and cognitive function, as well as the moderation of these associations by population group. Three population groups were examined - veteran-Jews, Arabs and immigrants from the former Soviet Union. Contact frequency with the close social milieu was found to be directly positively related to cognitive function. The association was also mediated by depressive symptoms, such that frequent contacts were linked to cognitive health via reduced depressive symptoms. This indirect link differed, however, among the three population groups. Contact frequency is important for cognitive health in the second half of life, and it operates both directly and by decreasing depressive symptoms. However, these links are not found among all ethnic groups and may, therefore, depend on the culture and social norms of each group and the meaning attributed to social ties.
Topics: Aged; Aged, 80 and over; Aging; Arabs; Cognitive Dysfunction; Depression; Female; Humans; Israel; Jews; Male; Middle Aged; Social Networking; USSR
PubMed: 29723058
DOI: 10.1080/13607863.2018.1459472 -
Clinical Gastroenterology and... Dec 2021Resilience is the ability to adapt positively to stress and adversity. It is a potential therapeutic target as it is reduced in irritable bowel syndrome (IBS) compared...
BACKGROUND & AIMS
Resilience is the ability to adapt positively to stress and adversity. It is a potential therapeutic target as it is reduced in irritable bowel syndrome (IBS) compared to healthy controls and associated with worse symptom severity and poorer quality of life. The aim of this study was to examine if these findings are generalizable by comparing resilience between IBS versus the general population and other chronic gastrointestinal (GI) conditions.
METHODS
Participants in the general population completed an online survey containing questionnaires measuring demographics, diagnosis of IBS and other GI conditions, symptom severity, psychological symptoms, resilience, and early adverse life events (EALs). IBS was defined as having a physician diagnosis of IBS and/or meeting Rome criteria without co-morbid GI disease. All others were included in the general population group. The chronic GI conditions group included those with inflammatory bowel disease, celiac disease and/or microscopic colitis.
RESULTS
Resilience was lower in IBS (n = 820) than the general population (n = 1026; p < 0.001) and associated with worse IBS symptom severity (p < 0.05). Global mental health affected resilience differently in IBS compared to the general population (all p's < 0.05). EALs were associated with decreased ability to bounce back from adversity in both IBS and the general population (p < 0.001). Resilience scores were similar in IBS and other chronic GI conditions that present with similar symptoms.
CONCLUSIONS
Resilience is lower compared to the general U.S. population but does not appear to be specific to IBS as it is comparable to other chronic GI conditions. Low resilience negatively affects symptom severity and mental health and thus, may serve as a novel therapeutic target.
Topics: Humans; Irritable Bowel Syndrome; Population Groups; Quality of Life; Severity of Illness Index; Surveys and Questionnaires
PubMed: 32835842
DOI: 10.1016/j.cgh.2020.08.043 -
PloS One 2018X-chromosomal short tandem repeats (X-STRs) may assist resolution of complex forensic kinship cases and complement autosomal and Y-chromosomal STRs in routine forensic...
Forensic characterization and genetic polymorphisms of 19 X-chromosomal STRs in 1344 Han Chinese individuals and comprehensive population relationship analyses among 20 Chinese groups.
X-chromosomal short tandem repeats (X-STRs) may assist resolution of complex forensic kinship cases and complement autosomal and Y-chromosomal STRs in routine forensic practice and population genetics. In the present study, we investigated the allele/haplotype diversity and forensic genetic characteristics of 19 X- STRs in 206 Guizhou Han and 1344 Meta-Han Chinese individuals using AGCU X19 PCR amplification system. Population relationships within five Han Chinese population groups (1344 individuals), between Guizhou Han and other 19 Chinese reference populations belonging to four language families (5074 individuals), as well as between Meta-Han Chinese and other 15 minorities (3730 individuals) were performed using Reynolds's, Nei's and Fst genetic distances, principal component analysis (PCA), multidimensional scaling (MDS), Structure and Neighbor-Joining tree. Mean paternity exclusion chance (MEC) in Duos > 0.99999999453588 and in trios > 0.99999999999781, as well as power of discrimination (PD) > 0.99999999999980 in Guizhou Han on the basis of allele frequencies. Consistent high MECs and PDs can be observed in Meta-Han Chinese population based on both allele diversities of 19 markers and haplotype diversities of seven linkage groups (LG). DXS10135 and LG1 are the most informative and polymorphic in Han Chinese group. The comprehensive population comparisons reveal that Han Chinese is a homogenous population and has the genetically closer relationship with Hmong-Mien-speaking groups than Tibetan-Burman-speaking and Turkic-speaking populations. In summary, AGCU X19 PCR amplification system is highly polymorphic and informative in Guizhou Han and Han Chinese populations. The comprehensive population data from 20 Chinese populations analyzed in this study may be used as a reference Chinese frequency database of X-STRs for forensic casework applications.
Topics: Asian People; China; Chromosomes, Human, X; DNA Fingerprinting; Female; Forensic Genetics; Gene Frequency; Genetic Variation; Genetics, Population; Humans; Linkage Disequilibrium; Male; Microsatellite Repeats; Principal Component Analysis
PubMed: 30235314
DOI: 10.1371/journal.pone.0204286 -
Addiction Science & Clinical Practice Jul 2020A lack of culturally and linguistically appropriate smoking cessation intervention programs exist among Chinese-Canadian communities. Smoking cessation programs that are...
BACKGROUND
A lack of culturally and linguistically appropriate smoking cessation intervention programs exist among Chinese-Canadian communities. Smoking cessation programs that are provided in Canadian mainstream culture and language have shown limited effectiveness in altering smoking behaviours of smokers from these communities. Our study aimed to explore and compare smoking patterns, knowledge, beliefs, and risk perceptions of adult current smokers between Chinese- and English-speaking Canadians participating in a culturally and linguistically tailored smoking cessation program.
METHODS AND DESIGN
A qualitative study embedded in an effectiveness study using an 8-month quasi-experimental design, was conducted to compare the effects of four one-on-one culturally and linguistically sensitive consultation sessions (intervention group) and three telephone follow-up assessments (control group). All participants were provided take-home educational materials (designed exclusively for this study), and completed study questionnaires at baseline and 6-month post-intervention. An 8-month post-intervention phone assessment was conducted with all participants to assess cessation progress and maintenance.
PARTICIPANTS
70 Chinese- and English-speaking adult (aged 19-80) current smokers (≥ 5 cigarettes per day) residing in the Greater Vancouver Area, Canada, were recruited between May 2018 and April 2019.
DATA ANALYSIS
Thematic analysis was conducted on self-reported qualitative information from study questionnaires and verbatim transcripts of in-person consultations and telephone follow-ups. Cultural- and demographic-related themes were considered.
RESULTS
Perceptions of smoking patterns, smoking status, triggers, and barriers to smoking cessation were identified. Important elements of smoking cessation program, including facilitator characteristics, duration, procedures, cultural factors, and topics were also identified. Differences in perceptions of smoking were observed between gender and language groups. Stress was a major trigger for smoking in both language groups. An individual's social network was reported as the largest barrier to successful cessation for Chinese-speaking participants.
CONCLUSIONS
Our study provides knowledge and information to further examine the role of risk perception (realization of the possible harms of smoking) in smoking cessation to facilitate the development of future interventions that could more effectively promote smoking cessation among new immigrants and within ethnocultural communities. We found that our program was generally accepted by smokers in both language groups and the participants reported that they were able to apply the strategies learned in the intervention during their quit smoking plan.
Topics: Adult; Aged; Aged, 80 and over; British Columbia; Canada; China; Culturally Competent Care; Emigrants and Immigrants; Female; Health Knowledge, Attitudes, Practice; Humans; Male; Middle Aged; Population Groups; Qualitative Research; Smokers; Smoking Cessation; Social Support; Stress, Psychological; Surveys and Questionnaires
PubMed: 32631420
DOI: 10.1186/s13722-020-00197-4 -
Clinical Trials (London, England) Feb 2022Indigenous peoples are overrepresented with chronic health conditions and experience suboptimal outcomes compared with non-Indigenous peoples. Genetic variations...
BACKGROUND
Indigenous peoples are overrepresented with chronic health conditions and experience suboptimal outcomes compared with non-Indigenous peoples. Genetic variations influence therapeutic responses, thus there are potential risks and harm when extrapolating evidence from the general population to Indigenous peoples. Indigenous population-specific clinical studies, and inclusion of Indigenous peoples in general population clinical trials, are perceived to be rare. Our study (1) identified and characterized Indigenous population-specific chronic disease trials and (2) identified the representation of Indigenous peoples in general population chronic disease trials conducted in Australia, Canada, New Zealand, and the United States.
METHODS
For Objective 1, publicly available clinical trial registries were searched from May 2010 to May 2020 using Indigenous population-specific terms and included for data extraction if in pre-specified chronic disease. For identified trials, we extracted Indigenous population group identity and characteristics, type of intervention, and funding type. For Objective 2, a random selection of 10% of registered clinical trials was performed and the proportion of Indigenous population participants enrolled extracted.
RESULTS
In total, 170 Indigenous population-specific chronic disease trials were identified. The clinical trials were predominantly behavioral interventions (n = 95). Among general population studies, 830 studies were randomly selected. When race was reported in studies (n = 526), Indigenous individuals were enrolled in 172 studies and constituted 5.6% of the total population enrolled in those studies.
CONCLUSION
Clinical trials addressing chronic disease conditions in Indigenous populations are limited. It is crucial to ensure adequate representation of Indigenous peoples in clinical trials to ensure trial data are applicable to their clinical care.
Topics: Canada; Chronic Disease; Humans; Indigenous Peoples; Native Hawaiian or Other Pacific Islander; New Zealand; Population Groups; United States
PubMed: 34991361
DOI: 10.1177/17407745211069153 -
PLoS Genetics Mar 2014Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population...
Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships between facial variation and the effects of sex, genomic ancestry, and a subset of craniofacial candidate genes. The facial effects of these variables are summarized as response-based imputed predictor (RIP) variables, which are validated using self-reported sex, genomic ancestry, and observer-based facial ratings (femininity and proportional ancestry) and judgments (sex and population group). By jointly modeling sex, genomic ancestry, and genotype, the independent effects of particular alleles on facial features can be uncovered. Results on a set of 20 genes showing significant effects on facial features provide support for this approach as a novel means to identify genes affecting normal-range facial features and for approximating the appearance of a face from genetic markers.
Topics: Black People; Brazil; DNA; Ethnicity; Face; Female; Genetics, Population; Genotype; Humans; United States; White People
PubMed: 24651127
DOI: 10.1371/journal.pgen.1004224 -
Canadian Journal of Public Health =... Oct 2020Wellness is a challenge for Indigenous peoples, partly because Western services do not adopt a holistic approach. By devaluing traditional knowledge, Indigenous values... (Review)
Review
Importance of Indigenous elders' contributions to individual and community wellness: results from a scoping review on social participation and intergenerational solidarity.
OBJECTIVE
Wellness is a challenge for Indigenous peoples, partly because Western services do not adopt a holistic approach. By devaluing traditional knowledge, Indigenous values and beliefs, these services lower Indigenous power and affect cultural identities. Indigenous elders participate in intergenerational solidarity by transmitting knowledge, values, and culture in a holistic approach. Despite widespread acceptance of the importance of Indigenous elders' contributions to wellness, a rigorous synthesis of knowledge has never been done. This study aimed to provide a comprehensive understanding of how Indigenous elders' social participation contributes to individual and community wellness.
METHOD
A scoping review was conducted with Indigenous elders and stakeholders in Québec (Canada). Sixteen databases were searched with 57 keywords. Data from the documents retrieved were analyzed, organized, and synthesized based on the International Classification of Functioning, Disability and Health.
SYNTHESIS
A total of 144 documents were examined, comprising 74 scientific papers and 70 sources from the gray literature. Indigenous elders contributed to wellness mainly through relationships and interactions with other community members and non-Indigenous people (72.2%); intergenerational oral and written communications (70.1%); community, social and civic life (45.8%); volunteering and jobs (35.4%); and family life (29.9%). Elders transmit traditional knowledge, strengthen social cohesion, and help to develop positive attitudes such as reciprocity. Their actions favour disease prevention and health promotion, as including traditional approaches increases the acceptability of health and social services.
CONCLUSION
This scoping review highlights the need for longitudinal studies with mixed-method designs involving Indigenous communities at all stages of the research to deepen understanding of the contributions of Indigenous elders to individual and community wellness.
Topics: Aged; Humans; Intergenerational Relations; Population Groups; Social Participation
PubMed: 32109314
DOI: 10.17269/s41997-019-00292-3