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PubMed2026

Clinically Relevant Pharmacogenomic Variant Frequencies in Kazakh, Russian, and Uzbek Population Groups Residing in Kazakhstan.

Central Asian populations remain underrepresented in pharmacogenomic research, limiting the availability of population-specific data for genotype-informed prescribing and precision medicine. This study analyzed clinically relevant pharmacogenomic variant frequencies in Kazakh, Russian, and Uzbek population groups residing in Kazakhstan using genome-wide genotype data from 1301 individuals: Kazakh (n = 1111), Russian (n = 156), and Uzbek (n = 34). ClinPGx, a PharmGKB-based clinical annotation framework that prioritizes variant-drug associations according to levels of evidence, was used to select variants with evidence levels 1A, 1B, and 2A. In total, 112 directly genotyped variants were retained for population-specific allele and genotype frequency analysis. All 112 variants were queried against the gnomAD v4.1 genome and exome reference datasets. Of these, matching allele-frequency data for the predefined reported allele were available in at least one of the two gnomAD datasets for 103 variants, whereas for 9 variants the VEP-based query did not return a matching gnomAD frequency for that allele. Frequencies were reported for the same predefined reported allele across all groups, and differences between the study groups were assessed using 95% confidence intervals, Fisher's exact tests, and false discovery rate correction. Genotype counts and the proportions of individuals carrying at least one copy of the reported allele were also summarized for all selected variants. Several pharmacogenomic variants showed population-specific frequency patterns, including NUDT15 rs116855232, SLCO1B1 rs4149056, VKORC1 rs9934438, and UGT1A1 rs10929302. Comparison with gnomAD showed that the observed frequencies were variant-specific and could not be consistently approximated by a single broad genetic ancestry group. Reference-based population structure analysis provided additional ancestry context and supported separate reporting by population group. The study did not evaluate clinical outcomes or make individual prescribing recommendations, and the small Uzbek sample size limits the precision of frequency estimates for this group, particularly for rare variants. Overall, this study provides a clinically prioritized pharmacogenomic frequency resource for underrepresented population groups in Kazakhstan and supports broader Central Asian representation in pharmacogenomic implementation research.

Central Asia↗
PubMed1990

[Formation of population groups with a higher risk of tuberculosis].

During the years when tuberculosis was diagnosed among all age, sex, social and occupational groups of the population, methodological approaches to the organization of antituberculosis care based on annual antituberculosis preventive activities and covering practically all populations were the only proper measures bringing about their own positive results. Nowadays the annual preventive activities should be launched in those population groups where cases of tuberculosis are detected most frequently. To classify risk factors directly responsible for tuberculosis endemia, questionnaires were sent to 477 newly diagnosed adult patients. The obtained data were computer processed. Unfavourable social and biomedical factors, including alcoholism, unsatisfactory economic, working and living conditions, contact with tuberculosis patients, concurrent diseases and other social factors, have a decisive effect on the tuberculosis morbidity.

Adolescent↗
PubMed2001

[Distribution of MICA microsatellite in 13 population groups of China].

The genetic data of MICA microsatellite were obtained by genotyping 577 samples in 13 population groups of China, which are Han-YN, Han-GD, Han-SD, Bai, Dai, Lahu, Li, Naxi, Sala, She, Tu, Wa and Zang-YN, with genescan. Five alleles have been observed in the population groups, which are A4, A5, A5.1, A6 and A9. A5 allele is the most frequent in all population groups except Lahu and Li, while the most frequent allele for Lahu and Li is A5. 1 and A4 respectively. The second most frequent allele is the A5.1 in Han-YN, Han-SD, Dai, Naxi, Sala, She, and Wa. The lest frequent allele for Han-YN, Han-GD, Lahu, Naxi, She, Wa is the A6 which is not observed in Li. A4 allele is the lest frequent in Han-SD, Bai, Dai, Sala, Tu, Zang-YN. The results show that the distribution of MICA microsatellite is different in these population groups, and the polymorphism information contents (PIC) of this microsatellite is high. It is a potential useful marker in the study of human origin and migration, personal identification, gene mapping and location, and disease diagnosis.

China↗
PubMed1990

Comparison of plaque microflora between Chinese and Caucasian population groups.

This investigation was designed to compare the predominant plaque micro-organisms from a Chinese group of patients exhibiting periodontitis with an age-, sex- and periodontal disease-matched Caucasian group of patients. In addition to race, the 2 population groups differed with respect to diet and oral hygiene habits, or effectiveness at removing plaque. Clinical measurements were determined along with an evaluation for micro-organisms in supragingival and subgingival plaque. Although the Chinese and Caucasian population groups were similar with respect to composition of micro-organisms in subgingival plaque, notable differences were observed in supragingival plaque. The Chinese group had higher mean proportions of spirochetes, motile rods. Fusobacterium spp. and dark-pigmented Bacteroides species, while the Caucasian group had higher mean proportions of cocci, total Actinomyces spp., A. viscosus and total Streptococcus spp. in supragingival plaque. The microbial differences observed in supragingival plaque may be explained at least in part, if not totally, by the higher plaque index scores of the Chinese versus Caucasian population groups.

Actinobacillus↗
PubMed2004

[Genetic analysis of 17 biallelic markers on Y chromosome in 3 Chinese ethnic group populations].

OBJECTIVE: To study the genetic polymorphism of Y chromosome in different Chinese ethnic group populations. METHODS: Genotypes of 17 biallelic markers located in the nonrecombining portion of the Y chromosome in 76 men from 3 Chinese ethnic group populations (Han in Shandong, Bai in Yunnan, and Tu in Qinghai) were examined with polymerase chain reaction (PCR) and allelic-specific PCR (ASPCR). Their haplotypes made of these 17 binary markers were constructed. The principle component (PC) analysis was conducted based on the haplotype frequency distribution among these 3 and other 15 published Chinese ethnic group populations. RESULTS: The diversities of M50, M110, M103, M88, M3, and M7 were not found in these 3 populations. The frequencies of YAP+ were 23.8%, 6.7%, and 4% respectively in Tu, Bai, and Shandong Han. Eleven haplotypes were found in 3 populations--7 haplotypes (H1, H3, H5, H6, H8, H9, and H11) in Shandong Han (Han.SD), 8 haplotypes (H1, H2, H3, H5, H6, H8, H11, and H16) in Tu, and 9 haplotypes (H1, H3, H4, H5, H6, H8, H9, H11, and H13) in Bai. The predominant haplotypes were H1, H3, H5, H6, H8, and H11. According to PC analysis, Bai was close to Northern Han; Shandong Han, Southern Han (Han.S), Bai and Yunnan Tibetan clustered together; and Tu was close to Yi, Hui and Manchurian. CONCLUSIONS: Shandong Han may have had genetic exchanges with southern populations in China. It has been confirmed that some gene components of Han had flowed into Bai's gene pool. Gene flowed from Central Asia had impacted Chinese western populations.

Alleles↗
PubMed2000

Detection of genetic variation in Indian population groups using a novel minisatellite probe and finding relationships through tree construction.

Genetic variation in HaeIII-digested genomic DNA samples from different individuals belonging to population groups from Bengal, Uttar Pradesh (UP), Punjab, and South India was assessed at hypervariable loci, using a minisatellite probe, pBA1.2 (accession number, AF 157691), the repeat unit of which was 24 mer long and rich in G-bases. Comparison of DNA profiles between individuals showed a very low probability of band sharing, which ranged from 0.18 to 0.24. A dendrogram, based on Nei's genetic distance, constructed by the neighbor-joining method, showed the formation of separate clusters by both South Indian and non-Indian samples, whereas the construction of a dendrogram based on the Unweighted pair group method arithmetic average (UPGMA) method with Jaccard's similarity coefficient at the individual level led to the formation of several small clusters which were interleaved; also, the subgroups for each of the populations were intermingled with the subgroups for the other populations. A separate analysis was carried out to check the consistency of the proximity between different individuals forming a cluster and between those individuals who were in the vicinity of two clusters. The dendrograms thus obtained did not change the relationship between the individuals from all the populations studied. Despite the distinct clustering observed in the population group comparison, a probable admixture was reflected in the finding that some individuals belonging to one population group were dispersed or embedded within a cluster generated by the individuals of another population group, when a minute dissection of the data for generating a tree at the individual level was carried out.

DNA Fingerprinting↗
PubMed2004

[Detection of transfusion transmitted virus (TTV) DNA in sera among three different population groups in Abidjan, Côte d'Ivoire in 2001].

The aim of this study was to determine the transfusion transmitted Virus (TTV) prevalence in three groups of population from Abidjan, Côte d'Ivoire. The A group contained 39 multitransfused patients, the B group contained 10 blood donors supposed to be healthy persons which have never been transfused and the group C contained 43 patients with chronic liver pathology. In this last group, 33 patients had HBV positive serology and the 10 others, HCV positive serology. We used PCR to investigate TTV in patients serum. Detection rates were comprised between 67% and 82%. This is the first study to provide information about the high portage of TTV in ivorian population.

Adolescent↗
PubMedDate not supplied

Integrating nursing diagnosis for population groups within community health nursing practice.

Conflicting views exist about the utility of nursing diagnosis in community health nursing, particularly in relation to its use with population groups. Until recently, this application of nursing diagnosis received limited consideration by the North American Nursing Diagnosis Association. As a result, discussion is needed regarding the ways in which use of nursing diagnosis with population groups in community settings may be different from the use of nursing diagnosis with individuals. In this article several distinctive characteristics of the use of nursing diagnosis for health promotion with various population groups are addressed. Thoughtful consideration of these distinctive characteristics can provide a foundation for effective use of nursing diagnosis with population groups in community settings.

Community Health Nursing↗
PubMed1976

[The sulfur dioxide in various population groups in the German Federal Republic].

In direct nutrition surveys, mostly with precise weighing methods, the SO2 intake was estimated in 10 groups of population in the FRG. The averages in the groups are in comparison with the FAO/WHO recommendation very low. This result was also found in most of the people in surveys. From group to group there is a wide range and in the groups too. The highest intake in sulfur dioxide has a group of winegrowers with 0.88 mg/kg body weight and day.

Adolescent↗
PubMed1996

Population groups: indexing, coverage, and retrieval effectiveness of ethnically related health care issues in health sciences databases.

OBJECTIVES: This study examined methods of accessing (for indexing and retrieval purposes) medical research on population groups in the major abstracting and indexing services of the health sciences literature. DESIGN: The study of diseases in specific population groups is facilitated by the indexing of both diseases and populations in a database. The MEDLINE, PsycINFO, and Embase databases were selected for the study. The published thesauri for these databases were examined to establish the vocabulary in use. Indexing terms were identified and examined as to their representation in the current literature. Terms were clustered further into groups thought to reflect an end user's perspective and to facilitate subsequent analysis. The medical literature contained in the three online databases was searched with both controlled vocabulary and natural language terms. RESULTS: The three thesauri revealed shallow pre-coordinated hierarchical structures, rather difficult-to-use terms for post-coordination, and a blurring of cultural, genetic, and racial facets of populations. Post-coordination is difficult because of the system-oriented terminology, which is intended mostly for information professionals. The terminology unintentionally restricts access by the end users who lack the knowledge needed to use the thesauri effectively for information retrieval. CONCLUSIONS: Population groups are not represented adequately in the index languages of health sciences databases. Users of these databases need to be alerted to the difficulties that may be encountered in searching for information on population groups. Information and health professionals may not be able to access the literature if they are not familiar with the indexing policies on population groups. Consequently, the study points to a problem that needs to be addressed, through either the redesign of existing systems or the design of new ones to meet the goals of Healthy People 2000 and beyond.

Abstracting and Indexing↗
PubMed1997

HIV risk behavioral surveillance in Bangkok, Thailand: sexual behavior trends among eight population groups.

OBJECTIVE: To assess trends in HIV risk behaviors over a 3-year period in eight population groups in Bangkok, Thailand. DESIGN AND SUBJECTS: Using a repeated cross-sectional survey design with a structured questionnaire, we collected five sets of self-reported sexual behavior data related to HIV risk from the following subject groups at the same sampling sites during 1993-1996: direct and indirect female sex workers, male attenders of sexually transmitted disease (STD) clinics, female attenders of antenatal care clinics, male and female vocational students, and male and female factory workers. RESULTS: Reported patronage of commercial sex by the three male groups declined by an overall average of 48% over the 3-year period. Other non-regular sexual partnerships declined among male STD clinic attenders and vocational students. Condom use during most recent sexual intercourse between sex workers and clients peaked at high levels (>90%) in the early data waves, while among indirect sex workers and their clients, consistent condom usage increased from 56% to 89%. Low condom use persisted among sex workers and their non-paying sex partners. Single women reported low levels of sexual activity and condom use with no signs of an increase. Similarly, married women from antenatal clinics reported low condom use with their husbands, with no change throughout the period of the study. CONCLUSIONS: HIV risk behavioral surveillance is a useful way of determining whether behavior change has occurred in specific population groups. The results here confirm and add to a growing set of evidence of risk behavior reduction in Thailand. The behavioral changes did not occur uniformly but varied depending on the sexual dyad and the population group under study. Behavioral surveillance should be promoted and its methodologies strengthened in attempts to understand the local dynamics of HIV epidemics.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Paternity exclusion using 18 genetic systems in 2124 cases in four South African population groups.

Using 18 different blood group systems, 2,124 cases of doubtful paternity, unevenly distributed among four different population groups--South African Negroes (Xhosas) 645 (30%); South African Caucasians 264 (13%); Cape Coloureds (non-Malay) 1,156 (54%), and Cape Malays 59 (3%)--were analysed. Tests for red cell antigen, plasma protein, red cell enzyme and HLA polymorphisms were done on all subjects. The overall exclusion rate was 38,23%, i.e. 812 of the 2,124 men were not biological fathers of the children ascribed to them. The capability of the individual systems to exclude a man from specific paternity was also evaluated. The polymorphic HLA system was the most useful and alone--depending on the particular population group--excluded between 93.5% and 97.8% of falsely accused men. The proportion of men excluded also varied between different population groups using the different systems, e.g. the Rhesus system alone excluded 43.9% of South African Caucasian non-fathers and only 14% of the Xhosa non-fathers. This is a reflection of the gene frequencies within a particular population. The analysis showed that the genetic systems tested in this laboratory were extremely efficient in providing evidence in proof of non-paternity.

Black People↗
PubMed1998

Plantar melanoma: results of treatment in three population groups.

BACKGROUND: The frequency of plantar melanoma varies widely in different population groups. The plantar surface is an infrequent site in white persons but is common in the black population. The effect of ethnicity on melanoma of the plantar surface has not previously been well defined. The aim of this study was to analyze the results of a standard protocol of treatment of melanoma of the sole in 3 homogeneous population groups treated during a 15-year period at a university referral hospital. METHODS: A retrospective analysis of 1403 consecutive patients with melanoma treated between 1977 and 1991 was performed. Eighty-five patients (35 black, 25 white, and 16 of mixed ancestry) had primary cutaneous melanoma involving the sole of the foot. RESULTS: Acral lentiginous melanoma was the most common histogenetic type and occurred in 49 patients. Significantly more black patients (20 of 35) had metastatic disease compared with white patients or groups with mixed ancestry (P < .05). The Breslow depth was significantly more advanced in black patients (7.1 mm) with stage I disease than in white patients (3.3 mm) or those of mixed ancestry (3.6 mm) (P < .05). The 5-year survival rate was 60% for white patients, 26% for black patients, and 24% for those of mixed ancestry. CONCLUSIONS: Black patients were seen more frequently with advanced local disease, and nearly half had disseminated disease. Those of mixed ancestry had a histogenetic type resembling that of black patients, but the Breslow depth of penetration was similar to that of white patients. Education programs to heighten awareness of both patient and physician are required to enable earlier diagnosis and improve outcome.

Adult↗
PubMed2003

[Seroprevalence of type 2 herpes simplex virus infection in 3 population groups of Mexico City].

OBJECTIVE: To determine the seroprevalence of type 2 herpes simplex virus (HSV-2) infection and risk factors in three female population groups in Mexico City. MATERIAL AND METHODS: A cross-sectional study was carried out in 2000, among a sample population of women living in Mexico City, diagnosed with breast or cervical cancer, and women with negative Pap test results from the general population. Informed consent was obtained from all participants to answer a sociodemographic and sex life questionnaire and draw a blood specimen. The presence of antibodies against type 2 herpes simplex virus was determined using the type-specific Western blot technique. Crude and adjusted statistical analyses were performed on the associations between survey data and infection outcomes. RESULTS: Women with cervical cancer had a seroprevalence of HSV-2 infection of 46.8% (191/408); that of women from the general population who were Pap negative was 29.3% (214/730). For women with breast cancer, the seroprevalence was 22.6% (29/128). Variables significantly associated with seropositivity against HSV-2 infection were older age, more sexual partners, having cervical cancer, and, among cervical cancer patients, beginning sexual activity before 21 years of age and being divorced or separated. CONCLUSIONS: Study findings showed statistically significant differences in the prevalence of viral infection by population groups. The overall frequency of viral infection among study subjects shows that this is an intermediate risk population, as compared with other population groups in Mexico at high (sexual workers) and low (college students) risk. The main characteristics associated with exposure to type 2 herpes simplex virus for the subpopulations corresponded, as expected, to sexual behavior and to the probability of infection with older age. The English version of this paper is available too at:http://www.insp.mx/salud/index.html.

Adolescent↗
PubMed1983

Medtronic-Hall valve replacement in a Third World population group.

In a twenty-month period, 396 Medtronic-Hall valves were inserted in 341 patients belonging to a Third World population group. Approximately 20% of the patients were given anticoagulants. The total follow-up period was 353 patient years (mean 13 months per patient). Late valve-related mortality was 3.6% patient years (excluding ring leaks) with a valve failure rate (VFR) of 4.0%/patient year. The incidence of thromboembolic complications was 6.8%/patient year while valve thrombosis occurred in 7 patients (2.0%/patient year). Hemolysis was generally subclinical, but 2 patients without ring leaks required transfusion. The initial late results compare favorably with those of St. Jude Medical valve replacement in a similar population group. The supreme test for any substitute heart valve is its successful application in a third world population group because its inadequacies are highlighted by an increased VFR and morbidity.

Adolescent↗