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Intra- and inter-population diversity at short tandem repeat loci in diverse populations of the world.

To study the level of intra- and inter-population variation at hypervariable DNA loci, we have characterized 15 human populations of diverse ethnic and geographic origins at six short tandem repeat loci by using the polymerase chain reaction. Even though the spectrum of allelic variation is quite broad and there are substantial differences in allele frequency distributions among populations, in general, population within a major racial group show a greater degree of similarity. This observation is reflected in the analysis of gene diversity. When the total diversity is apportioned, the maximum variation becomes attributable to inter-individual differences within a population; of the variation that is attributed to differences between populations within a racial group and differences between racial groups, namely, African, Caucasian, and Mongoloid, than the American Indians and the Pacific Islanders. As expected, a reciprocal relationship between gene diversity and FST levels is observed. Higher values of FST in the American Indian and the Pacific Islanders may reflect smaller population size and a higher level of isolation. An analysis of genetic distance encompassing the populations belonging to the three major racial groups recognizes three distinct clusters - all the populations of African affiliation cluster together, as do the Caucasian affiliated and the Mongoloid groups, in two distinct clusters. Interestingly, three broadly classified cosmopolitan US populations, namely, US White, US Black and US Asian, cluster with their ancestrally related populations. This study dispels some of the concerns regarding the applicability of DNA typing data for forensic use.

Alleles↗

Development and validation of dietary assessment methods for culturally diverse populations.

Culturally diverse populations with variable dietary and disease patterns provide a unique opportunity for conducting epidemiologic studies to identify the role of diet in the etiology of chronic diseases. The dietary method for epidemiologic studies, such as cohort or case-control studies, should generally be a diet history (or quantitative food frequency) of selected food items consumed during a usual month. Knowledge of the eating patterns of each ethnic group in the study is needed to develop an appropriate questionnaire. The diet history may be validated by collecting multiple 24-h recalls or food records from representative samples of each ethnic group and comparing the mean dietary intakes with the values obtained from the diet history. Examples of studies of culturally diverse populations and the development and validation of the dietary methods are discussed.

Cross-Cultural Comparison↗

Research agenda for understanding Alzheimer disease in diverse populations: work group on cultural diversity, Alzheimer's association.

The emerging evidence of ethnic variations in apolipoprotein polymorphism and Alzheimer disease risk shows that one cannot generalize findings based on a single cultural group too broadly ( Tang et al., 2001). Presence of one apolipoprotein E epsilon 4 allele is a stronger risk factor for Alzheimer disease in whites and Asians than in blacks ( Farrer et al., 1997). Environmental or genetic cofactors may modulate the effects of epsilon 4 on beta-amyloid metabolism differently in different subpopulations ( Shadlen, 1998). Recognizing this, the Alzheimer's Association has extended its goals to strengthen the scientific information base on the interactions of population diversity and Alzheimer disease heterogeneity ( NIA, 1998). This new focus is timely since minority elderly are the most rapidly increasing segment of the elderly population ( Lilienfeld and Perl, 1994, Brookmeyer et al., 1998). In this article, the authors highlight recent progress in research on Alzheimer disease among culturally diverse populations with a special emphasis on gaps in the knowledge base. The authors recommend four priorities for future Alzheimer disease research: (1) determine whether genetic causative factors interact differently in different populations; (2) reexamine the nature and role of cerebral ischemia and infarction and variations in symptom severity of Alzheimer disease; (3) explore the interaction of genes and environmental influences that are protective against Alzheimer disease; and (4) recruit and enroll ethnically diverse subjects in Alzheimer disease clinical trials.

Aged↗

Strategies and issues for managing menopause-related symptoms in diverse populations: ethnic and racial diversity.

Menopause is a naturally occurring "equal opportunity" event that every woman who lives beyond the age of approximately 52 years will experience. During the next 20 years, approximately 3.5 million African American women, 2 million Latinas, and 1 million Asian American women will enter the menopause. How a woman approaches the menopausal transition depends on a number of factors, from educational level to socioeconomic status; health-related factors, including stress; and marital status. Increasingly, the roles of race and ethnicity, as they relate to menopausal symptoms, are being explored. Understanding similarities and differences among women of color in perceptions, attitudes, and expectations surrounding the menopause can help provide culturally appropriate care and promote lifestyles that may decrease symptoms and increase quality of life. For example, minority women are usually the gatekeepers for healthcare for themselves and their families and have a highly developed social support network, often including extended family, a church community, and involvement in sororal or social organizations. In the future, research on menopausal symptoms among women of different racial/ethnic groups should focus on exploring in greater detail the effect of dietary factors and body mass index, additional evaluation of pituitary sensitivity, and use of complementary and alternative medicines in symptom management, with a better understanding of the risks and benefits of such therapies.

Complementary Therapies↗

Evolutionarily related Sindbis-like plant viruses maintain different levels of population diversity in a common host.

The levels of population diversity of three related Sindbis-like plant viruses, Tobacco mosaic virus (TMV), Cucumber mosaic virus (CMV), and Cowpea chlorotic mottle virus (CCMV), in infections of a common host, Nicotiana benthamiana, established from genetically identical viral RNA were examined. Despite probably having a common evolutionary ancestor, the three viruses maintained different levels of population diversity. CMV had the highest levels of diversity, TMV had an intermediate level of diversity, and CCMV had no measurable level of diversity in N. benthamiana. Interestingly, the levels of diversity were correlated to the relative host range sizes of the three viruses. The levels of diversity also remained relatively constant over the course of serial passage. Closer examination of the CMV and TMV populations revealed biases for particular types of substitutions and regions of the genome that may tolerate fewer mutations.

Base Sequence↗

Serving a diverse population: the role of speech-language pathology professional preparation programs.

A national survey of 228 program directors was conducted to determine how master's level professional preparation programs are meeting the challenge of preparing speech-language pathologists to provide quality services to an increasingly diverse population. A total of 91 respondents provided information regarding their programs' efforts to address diversity by increasing the diversity of speech-language pathology professionals, preparing students in research for diverse populations, and providing students with the didactic knowledge and clinical experience required to serve diverse populations. Results indicated that professional preparation programs continue to lag in their enrollment of minority students, but there are efforts actively to recruit and retain students from diverse groups. Much variation in preparation in research was found across programs. Graduate students are being presented with information concerning diversity issues, but clinical experiences vary greatly according to the geographic location of the preparation program and individual practicum placements. Implications of these findings for speech-language pathology preparation programs and other allied health programs are discussed.

Cultural Diversity↗

HIV prevalence in pregnant women in an ethnically diverse population in the UK: 1998-2002.

OBJECTIVE: To describe trends in the prevalence of HIV in an ethnically diverse population of pregnant women in the United Kingdom. METHODS: Data on parental country of birth from national birth registration records were linked to neonatal dried blood spot samples routinely collected for neonatal screening in the North Thames region between 1998 and 2002. Identifiers were subsequently irreversibly deleted prior to establishing maternal HIV status by testing the neonatal samples. RESULTS: A total of 491 213 dried blood spot samples were collected, and 490 879 (99.93%) were tested for HIV. Of these, 1029 were seropositive. There was an overall significant increasing trend (P-value = 0.001) between 1998 and 2002. Maternal region of birth was available for 89.8% of HIV-infected samples, and, among these, 80.5% of mothers were born in sub-Saharan Africa and 11.1% in the UK. The highest prevalences of HIV were in women born in sub-Saharan Africa (2.09%). If both parents were born in the UK, overall seroprevalence was 0.016%. CONCLUSION: HIV infection in pregnant women in the UK continues to occur predominantly in women born in sub-Saharan Africa with prevalence in this group increasing significantly. Although the absolute number of HIV-infected women rose in some other groups, there was no evidence for a statistically significant rise in HIV prevalence in women born outside sub-Saharan Africa. Over 93% of children at risk of vertical transmission of HIV had at least one parent born abroad. This paper underlines the value of data linkage in monitoring HIV prevalence in a diverse population.

Adult↗

Prediction of mortality from coronary heart disease among diverse populations: is there a common predictive function?

OBJECTIVES: To examine the generalisability of multivariate risk functions from diverse populations in three contexts: ordering risk, magnitude of relative risks, and estimation of absolute risk. DESIGN: Meta-analysis of prospective cohort studies. PATIENTS: Participants from various epidemiological studies. MAIN OUTCOME MEASURE: Death from coronary heart disease (CHD). RESULTS: The analysis included 105 420 men and 56 535 women 35-74 years of age and free of CHD at baseline from 16 observational studies with a total of 27 analytical groups. The area under the receiver operating characteristic curve (AUC) was used to judge the ability of the multivariate risk function to order risk correctly. AUCs ranged from 0.60 to 0.80. The AUCs differed significantly between the studies (p < 0.01) but were very similar for different risk functions applied to the same population, indicating similar ability to rank risk for different models. The magnitudes of the relative risks associated with major risk factors (age, systolic blood pressure, serum total cholesterol, smoking, and diabetes) varied significantly across studies (p < 0.05 for homogeneity). The prediction of absolute risk was not very accurate in most of the cases when a model derived from one study was applied to a different study. CONCLUSIONS: When considered qualitatively, the major risk factors are associated with CHD mortality in a diverse set of populations. However, when considered quantitatively, there was significant heterogeneity in all three aspects: ordering risk, magnitude of relative risks, and estimation of absolute risk.

Adult↗

Microsatellite diversity, population subdivision and gene flow in the Lipizzan horse.

Blood samples of 561 Lipizzan horses from subpopulations (studs) of seven European countries representing a large fraction of the breed's population were used to examine the genetic diversity, population subdivision and gene flow in the breed. DNA analysis based on 18 microsatellite loci revealed that genetic diversity (observed heterozygosity = 0.663, gene diversity = 0.675 and the mean number of alleles = 7.056) in the Lipizzan horse is similar to other horse breeds as well as to other domestic animal species. The genetic differentiation between Lipizzan horses from different studs, although moderate, was apparent (pairwise F(ST) coefficients ranged from 0.021 to 0.080). Complementary findings explaining the genetic relationship among studs were revealed by genetic distance and principal component analysis. One genetic cluster consisted of the subpopulations of Austria, Italy and Slovenia, which represent the classical pool of Lipizzan horse breeding. A second cluster was formed by the Croatian, Hungarian and Slovakian subpopulations. The Romanian subpopulation formed a separate unit. The largest genetic differentiation was found between the Romanian and Italian subpopulation. Genetic results are consistent with the known breeding history of the Lipizzan horse. Correct stud assignment was obtained for 80.9% and 92.1% of Lipizzan horses depending on the inclusion or exclusion of migrant horses, respectively. The results of the present study will be useful for the development of breeding strategies, which consider classical horse breeding as well as recent achievements of population and conservation genetics.

Animals↗

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

N-acetyltransferase 2 (NAT2), an important enzyme in clinical pharmacology, metabolizes antibiotics such as isoniazid and sulfamethoxazole, and catalyzes the transformation of aromatic and heterocyclic amines from the environment and diet into carcinogenic intermediates. Polymorphisms in NAT2 account for variability in the acetylator phenotype and the pharmacokinetics of metabolized drugs. Native Americans, settled in rural areas and large cities of Latin America, are under-represented in pharmacogenetics studies; therefore, we sequenced the coding region of NAT2 in 456 chromosomes from 13 populations from the Americas, and two from Siberia, detecting nine substitutions and 11 haplotypes. Variants *4 (37%), *5B (23%) and *7B (24%) showed high frequencies. Average frequencies of fast, intermediate and slow acetylators across Native Americans were 18, 56 and 25%, respectively. NAT2 intra-population genetic diversity for Native Americans is higher than East Asians and similar to the rest of the world, and NAT2 variants are homogeneously distributed across native populations of the continent.

Acetylation↗

Consumer perspectives on genetic testing, research and services for ethnoculturally diverse populations.

A panel of individuals from diverse ethnocultural backgrounds and representing a variety of genetic disorders presented their consumer perspectives on genetic programs, testing and services. Their remarks emphasized how misunderstanding and miscommunication between health care professionals and many of the populations for whom they provide services can lead to unfilled genetic service needs. Panelists recommended that health care professionals become more aware and knowledgeable about the diversity of customs, beliefs and cultures of those receiving their services. Only by building a foundation of trust and mutual respect will genetic testing, research and services become more accessible to individuals from diverse populations, their families and their communities.

Journal Article↗

Qualitative research with diverse populations.

OBJECTIVES: To describe the benefits of conducting qualitative research with members of diverse cultures. DATA SOURCES: Research studies, articles and books on philosophy of science. CONCLUSIONS: Qualitative research with diverse populations is useful when little research exists on a topic, when there are no reliable and valid instruments for the groups, and when the appropriate language to use or the appropriate concepts and questions to ask are unclear. Participating in research that includes discussing your experiences has also been found to be valuable to those participating. IMPLICATIONS FOR NURSING PRACTICE: Qualitative studies with diverse groups are needed to understand the concepts that are important to members of these groups, and to guide us in asking the correct questions using correct language.

Clinical Nursing Research↗

Health-related quality-of-life assessments in diverse population groups in the United States.

BACKGROUND: Effectiveness research needs to represent the increasing diversity of the United States. Health-related quality-of-life (HRQOL) measures are often included as secondary treatment outcomes. Because most HRQOL measures were developed in nonminority, well-educated samples, we must determine whether such measures are conceptually and psychometrically equivalent in diverse subgroups. Without equivalence, overall findings and observed group differences may contain measurement bias. OBJECTIVES: The objectives of this work were to discuss the nature of diversity, importance of ensuring the adequacy of HRQOL measures in diverse groups, methods for assessing comparability of HRQOL measures across groups, and methodological and analytical challenges. RESULTS: Integration of qualitative and quantitative methods is needed to achieve measurement adequacy in diverse groups. Little research explores conceptual equivalence across US subgroups; of the few studies of psychometric comparability, findings are inconsistent. Evidence is needed regarding whether current measures are comparable or need modifications to meet universality assumptions, and we need to determine the best methods for evaluating this. We recommend coordinated efforts to develop guidelines for assessing measurement adequacy across diverse subgroups, allocate resources for measurement studies in diverse populations, improve reporting of and access to measurement results by subgroups, and develop strategies for optimizing the universality of HRQOL measures and resolving inadequacies. CONCLUSIONS: We advocate culturally sensitive research that involves cultural subgroups throughout the research process. Because examining the cultural equivalence of HRQOL measures within the United States is somewhat new, we have a unique opportunity to shape the direction of this work through development and dissemination of appropriate methods.

Awareness↗

Autogeny in diverse populations of Aedes aegypti from East Africa.

Autogeny in Aedes aegypti was found in many diverse populations throughout the range of East Africa. Degree of autogeny is proposed to be measured either by a relative method using an autogeny index (AIX), or by direct count of eggs in dissected ovaries and expressed in percentage. Degree of autogeny varied from population to population but it was always higher in the dark feral Ae. aegypti formosus than in the domestic Ae. aegypti aegypti form. The highest degree of autogeny occurred in the dark form frm Uganda, where in some populations it was as high as 34%. Some autogenous females have a tendency to retain fully developed eggs in their ovaries up to 4 weeks for later oviposition. At the beginning of oogenesis, the autogenous females deposit yolk granuli in many follicles. As soon as the follicles reach the resting stage, translocation of yolk from many to few follicles takes place. The number of eggs developed autogenously depends on the level of nutritional reserves carried by the females from the larval stage. Autogeny could possible serve as one of the preservation mechanisms of haematophagous species when hosts are not available. The vectorial capacity of autogenous populations of Ae. aegypti for transmission of pathogens is substantially lower than anautogenous ones because of their nonhaematophagous feeding behavior at the first gonotrophic cycle and shorter survival of females.

Aedes↗

Moment estimation of population diversity and genetic distance from data on recessive markers.

A moment-based method for estimating a measure of population diversity, theta or Wright's FST, is given for dominant markers such as amplified fragment length polymorphisms (AFLPs) or RAPDs in noninbred populations. Basic assumptions are that there is random mating, Hardy-Weinberg equilibrium, linkage equilibrium, no mutation from common ancestor and equally distant populations. It is based on the variances between and within populations of genotype frequencies, whereas previously moment methods for dominant markers have been indirect in that they have been based on first estimating allele frequencies and then using the variances of those frequencies. The use of genotype frequencies directly appears to be more robust. Approximate sampling errors of the estimates are given. Methods are extended to estimate genetic distances and their sampling errors. The AFLP data from samples of breeds of pig are used for illustration.

Analysis of Variance↗

Weight-height relationships and body mass index: some observations from the Diverse Populations Collaboration.

Body mass index (BMI, weight (kg)/height (m)(2)) is the most widely used weight-height index worldwide. This universal use of BMI assumes that the rationale for its use is universally applicable. We examine two possible rationales for using BMI as a universal measure. The first rationale is that BMI is strongly correlated with weight, but is independent of height. The second rationale is that BMI correctly captures the relationship between weight and height, which implies that the slope of log weight regressed on log height is 2. We examined the weight-height relationship in 25 diverse population samples of men and women from the US, Europe, and Asia. The analysis included 72 subgroups with a total of 385,232 adults aged 25 years and older. Although BMI was highly correlated with weight in all studies, a significant, negative correlation between BMI and height was found in 31 out of 40 subgroups of men (r=-0.004 to -0.133) and 32 of 32 groups of women (r=-0.016 to -0.205). When log weight was regressed on log height, the 95% confidence intervals (CI) of the slopes did not include 2 in 25 out of 40 male subgroups. The summary estimate of the slopes across studies of men was 1.92 (95% CI, 1.87-1.97). For women, slopes were lower than 2 in 28 of 32 subgroups with a summary estimate of 1.45 (95% CI, 1.39-1.51). In most of the populations, BMI is not independent of height; weight does not universally vary with the square of height; and the relationship between weight and height differs significantly between males and females. The use of a single BMI standard for both men and women cannot be justified on the basis of weight-height relationships.

Adult↗

Sampling within the genome for measuring within-population diversity: trade-offs between markers.

Experimental results of diversity estimates in a set of populations often exhibit contradictory patterns when different marker systems are used. Using simulations we identified potential causes for these discrepancies. These investigations aimed also to detect whether different sampling strategies of markers within the genome resulted in different estimates of the diversity at the whole genome level. The simulations consisted in generating a set of populations undergoing various evolutionary scenarios which differed by population size, migration rate and heterogeneity of gene flow. Population diversity was then computed for the whole genome and for subsets of loci corresponding to different marker techniques. Rank correlation between the two measures of diversity were investigated under different scenarios. We showed that the heterogeneity of genetic diversity either between loci (genomic heterogeneity, GH) or among populations (population heterogeneity, PH) varied greatly according to the evolutionary scenario considered. Furthermore, GH and PH were major determinants of the level of rank correlation between estimates of genetic diversities obtained using different kinds of markers. We found a strong positive relationship between the level of the correlation and PH, whatever the marker system. It was also shown that, when GH values were constantly low during generations, a reduced number of microsatellites was enough to predict the diversity of the whole genome, whereas when GH increased, more loci were needed to predict the diversity and amplified fragment length polymorphism markers would be more recommended in this case. Finally the results are discussed to recommend strategies for gene diversity surveys.

Computer Simulation↗