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1.
HLA ; 103(6): e15543, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38837862

RESUMO

The MHC class I region contains crucial genes for the innate and adaptive immune response, playing a key role in susceptibility to many autoimmune and infectious diseases. Genome-wide association studies have identified numerous disease-associated SNPs within this region. However, these associations do not fully capture the immune-biological relevance of specific HLA alleles. HLA imputation techniques may leverage available SNP arrays by predicting allele genotypes based on the linkage disequilibrium between SNPs and specific HLA alleles. Successful imputation requires diverse and large reference panels, especially for admixed populations. This study employed a bioinformatics approach to call SNPs and HLA alleles in multi-ethnic samples from the 1000 genomes (1KG) dataset and admixed individuals from Brazil (SABE), utilising 30X whole-genome sequencing data. Using HIBAG, we created three reference panels: 1KG (n = 2504), SABE (n = 1171), and the full model (n = 3675) encompassing all samples. In extensive cross-validation of these reference panels, the multi-ethnic 1KG reference exhibited overall superior performance than the reference with only Brazilian samples. However, the best results were achieved with the full model. Additionally, we expanded the scope of imputation by developing reference panels for non-classical, MICA, MICB and HLA-H genes, previously unavailable for multi-ethnic populations. Validation in an independent Brazilian dataset showcased the superiority of our reference panels over the Michigan Imputation Server, particularly in predicting HLA-B alleles among Brazilians. Our investigations underscored the need to enhance or adapt reference panels to encompass the target population's genetic diversity, emphasising the significance of multiethnic references for accurate imputation across different populations.


Assuntos
Alelos , Etnicidade , Frequência do Gene , Polimorfismo de Nucleotídeo Único , Humanos , Brasil , Etnicidade/genética , Antígenos HLA/genética , Desequilíbrio de Ligação , Estudo de Associação Genômica Ampla/métodos , Genótipo , Genética Populacional/métodos , Antígenos de Histocompatibilidade Classe I/genética , Biologia Computacional/métodos
2.
PLoS One ; 19(1): e0294660, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38166084

RESUMO

The aging process and the rising prevalence of Chronic Noncommunicable Diseases (NCDs) contribute to the decline in kidney function among elderly individuals. The aim of this research was to assess prevalence and incidence of decreased glomerular filtration rate (GFR) (GFR <60mL/min/1.73m2) over six-year period in elderly residents of São Paulo. This study relied on data from 2010 and 2016 waves of the cohort SABE Study - Health, Wellbeing, and Aging, with a probabilistic and representative sample of elderly individuals residing in São Paulo. GFR was calculated using the 2021 Chronic Kidney Disease Epidemiology Collaboration creatinine (CKD-EPI) equation. Categorical variables were analyzed using chi-square test with Rao-Scott correction, and weighted means and standard errors were calculated for continuous variables. Logistic and linear regression models were constructed to analyse the data. Statistical analyses accounted for sample weights to ensure population representativeness. The prevalence of decreased GFR in 2010 was 17.3%, with mean GFR of 75.6 mL/min/1.73m2 (SE = 0.5). The incidence of decreased GFR between 2010 and 2016 was 14.9%, equivalent to an annual incidence of 2.5%. This incidence was associated with older age, hypertension, self-perceived fair/poor/very poor health, and greater number of comorbidities associated. Over the study period, 68.1% of the elderly participants experienced deterioration in GFR, with an average decline of 1 mL/min/1.73m2 each year. Renal function decline often occurs without noticeable symptoms, and the high prevalence of comorbidities contributes to the worsening of GFR. Therefore, monitoring renal function in the elderly is crucial for effectively managing the health of this population.


Assuntos
Insuficiência Renal Crônica , Humanos , Idoso , Estudos de Coortes , Taxa de Filtração Glomerular , Prevalência , Incidência , Brasil/epidemiologia , Doença Crônica , Creatinina
3.
HLA ; 103(1): e15282, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37950640

RESUMO

Human genomics has quickly evolved, powering genome-wide association studies (GWASs). SNP-based GWASs cannot capture the intense polymorphism of HLA genes, highly associated with disease susceptibility. There are methods to statistically impute HLA genotypes from SNP-genotypes data, but lack of diversity in reference panels hinders their performance. We evaluated the accuracy of the 1000 Genomes data as a reference panel for imputing HLA from admixed individuals of African and European ancestries, focusing on (a) the full dataset, (b) 10 replications from 6 populations, and (c) 19 conditions for the custom reference panels. The full dataset outperformed smaller models, with a good F1-score of 0.66 for HLA-B. However, custom models outperformed the multiethnic or population models of similar size (F1-scores up to 0.53, against up to 0.42). We demonstrated the importance of using genetically specific models for imputing populations, which are currently underrepresented in public datasets, opening the door to HLA imputation for every genetic population.


Assuntos
Genética Populacional , Estudo de Associação Genômica Ampla , Humanos , Alelos , Genótipo , Antígenos HLA-B , Polimorfismo de Nucleotídeo Único
4.
Dement Neuropsychol ; 17: e20220109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37885967

RESUMO

Stress during aging is not uncommon and dysfunctional family relationships are important sources of stress in the elderly. Considering the potential stressor that family dysfunction represents, it is questioned whether prolonged exposure to dysfunctional family arrangements can contribute to cognitive decline in aging. Objective: To verify whether family dysfunction is a predictive factor of cognitive decline in aging. Methods: Secondary study with analysis of existing data from the longitudinal, population-based study "Health, Wellbeing and Aging" (SABE). Data from 791 elderly people from two cohorts of the SABE study between 2006 and 2015 were analyzed. Family dysfunction was assessed using the Apgar family instrument, while cognitive performance was assessed using the Mini-Mental State Examination (MMSE), verbal fluency (animals) and digit length in reverse order. Cognitive decline was measured by the difference in scores in the period between 2006 and 2015. Results: Approximately 10% of the sample had family dysfunction. The familial Apgar score was not associated with decline on MMSE (p=0.732), verbal fluency (p=0.852) and digit span scores (p=0.718). Scores related to cognition and family functionality, such as age, education, living alone, depression and family Apgar, do not explain cognitive decline. Conclusion: The findings indicate that family functioning is not associated with cognitive decline in community-dwelling elderly. New studies will be needed to analyze the qualitative characteristics of family relationships in the cognitive performance of the elderly.


O estresse ao longo do envelhecimento não é incomum, e as relações familiares disfuncionais constituem fontes importantes de estresse nos idosos. Considerando-se o potencial estressor que a disfunção familiar representa, questiona-se se a exposição prolongada a arranjos familiares disfuncionais pode contribuir para o declínio cognitivo no envelhecimento. Objetivo: Verificar se a disfunção familiar é um fator preditivo de declínio cognitivo no envelhecimento. Métodos: Estudo secundário com análise de dados provenientes do estudo longitudinal de base populacional "Saúde, Bem-estar e Envelhecimento" (SABE). Foram analisados dados de 791 idosos de duas coortes do estudo SABE no período entre 2006 e 2015. A disfunção familiar foi avaliada pelo instrumento Apgar familiar, enquanto o desempenho cognitivo foi avaliado pelo Miniexame do Estado Mental (MEEM), fluência verbal (animais) e extensão de dígitos na ordem inversa. O declínio cognitivo foi medido pela diferença dos escores entre 2006 e 2015. Resultados: Aproximadamente 10% da amostra apresentou disfunção familiar. O escore Apgar familiar não foi associado ao declínio cognitivo pelo MEEM (p=0,732), fluência verbal (p=0,852) e extensão de dígitos ao longo do tempo (p=0,718). Escores relacionados à cognição e funcionalidade familiar, como idade, escolaridade, morar sozinho, depressão e Apgar de família, não explicam o declínio cognitivo. Conclusão: Os achados mostram que a funcionalidade familiar não está associada ao declínio cognitivo de idosos da comunidade. Novos estudos serão necessários para analisar as características qualitativas das relações familiares no desempenho cognitivo de idosos.

5.
Arch Gerontol Geriatr ; 115: 105127, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37480721

RESUMO

Polypharmacy, considered as the use of multiple medications, has been one of the factors associated with a higher risk of falls among older adults. However, the association of this factor regardless of the use of Fall-Risk-Increasing Drugs (FRIDs) has not been extensively explored. OBJECTIVES: This study aimed to evaluate the longitudinal association of polypharmacy with falls and verify whether this association is independent of FRID use. METHODS: A longitudinal study was conducted with a representative sample of the urban population aged 60 years and over in the city of São Paulo, Brazil, from 2000 to 2006. The analysis of the association among polypharmacy, the use of FRIDs, and the occurrence of falls over the years was performed using Generalized Estimating Equation (GEE) models adjusted for covariates. RESULTS: The association between polypharmacy and falls was significantly attenuated after the adjustment for covariates and FRIDs. Users of two or more FRIDs had higher odds of falls (OR = 1.51; CI [1.16; 1.96]). CONCLUSION: FRID use was associated with the occurrence of falls among older adults. The number of medications must be kept to the minimum necessary, and FRIDs should be avoided in approaches to preventing falls among older adults.


Assuntos
Polimedicação , Humanos , Pessoa de Meia-Idade , Idoso , Estudos de Coortes , Brasil/epidemiologia , Estudos Longitudinais , Fatores de Risco
6.
Front Pharmacol ; 14: 1178715, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37234706

RESUMO

Introduction: Research in the field of pharmacogenomics (PGx) aims to identify genetic variants that modulate response to drugs, through alterations in their pharmacokinetics (PK) or pharmacodynamics (PD). The distribution of PGx variants differs considerably among populations, and whole-genome sequencing (WGS) plays a major role as a comprehensive approach to detect both common and rare variants. This study evaluated the frequency of PGx markers in the context of the Brazilian population, using data from a population-based admixed cohort from Sao Paulo, Brazil, which includes variants from WGS of 1,171 unrelated, elderly individuals. Methods: The Stargazer tool was used to call star alleles and structural variants (SVs) from 38 pharmacogenes. Clinically relevant variants were investigated, and the predicted drug response phenotype was analyzed in combination with the medication record to assess individuals potentially at high-risk of gene-drug interaction. Results: In total, 352 unique star alleles or haplotypes were observed, of which 255 and 199 had a frequency < 0.05 and < 0.01, respectively. For star alleles with frequency > 5% (n = 97), decreased, loss-of-function and unknown function accounted for 13.4%, 8.2% and 27.8% of alleles or haplotypes, respectively. Structural variants (SVs) were identified in 35 genes for at least one individual, and occurred with frequencies >5% for CYP2D6, CYP2A6, GSTM1, and UGT2B17. Overall 98.0% of the individuals carried at least one high risk genotype-predicted phenotype in pharmacogenes with PharmGKB level of evidence 1A for drug interaction. The Electronic Health Record (EHR) Priority Result Notation and the cohort medication registry were combined to assess high-risk gene-drug interactions. In general, 42.0% of the cohort used at least one PharmGKB evidence level 1A drug, and 18.9% of individuals who used PharmGKB evidence level 1A drugs had a genotype-predicted phenotype of high-risk gene-drug interaction. Conclusion: This study described the applicability of next-generation sequencing (NGS) techniques for translating PGx variants into clinically relevant phenotypes on a large scale in the Brazilian population and explores the feasibility of systematic adoption of PGx testing in Brazil.

7.
PLoS One ; 18(5): e0285975, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37228121

RESUMO

OBJECTIVE: We investigated the impact of socioeconomic inequalities on chronic pain of older adults according to sex. MATERIALS AND METHODS: This population-based cross-sectional study used survey data from the 2015 cohort of the SABE Study (Saúde, Bem-estar e Envelhecimento), Brazil. Socioeconomic status was examined at individual level (educational attainment, financial independence, and race/skin color) and contextual level (Human Development Index). We analyzed the association between variables using the chi-square test and the Rao & Scott correction. Logistic regression models were adjusted for risk factors. RESULTS: The study comprised 1,207 older adults representing 1,365,514 residents 60≥ years of age in the city of São Paulo. Chronic pain was more frequent in females (27.2%) than in males (14.5%) (p<0.001). Females evidenced the worst self-perception of pain, especially those of the most vulnerable socioeconomic strata. Social inequalities impacted chronic pain in different ways between sexes. Among females, unfavorable living conditions (OR = 1.59; 95%CI 1.07; 2,37) and Blacks/Browns females were most likely to have chronic pain (OR = 1.32; 95%CI 1.01; 1.74). Among males, only the individual aspects were significant for the occurrence of chronic pain, such as low educational attainment (OR = 1.88; 95%CI 1.16; 3.04) and insufficient income (OR = 1.63; 95%CI 1.01; 2.62). DISCUSSION: The potential for inequality was greater for females than for males reflecting structural factors inherent in a highly unequal society. Conclusions: Equity-oriented health policies are critical to preventing pain in human aging.


Assuntos
Dor Crônica , Masculino , Feminino , Humanos , Idoso , Estudos Transversais , Dor Crônica/epidemiologia , Brasil/epidemiologia , Fatores Socioeconômicos , Classe Social
8.
J Am Geriatr Soc ; 71(10): 3152-3162, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37227109

RESUMO

BACKGROUND: Vision and hearing impairments can reduce participation in social activities. Given the prominent role of the mouth in face-to-face interactions, this study evaluated the associations of tooth loss, vision, and hearing impairments with social participation among older adults. METHODS: This analysis included 1947 participants, aged 60+ years, who participated in three waves (2006, 2010, and 2015) of the Health, Wellbeing and Aging Study (SABE) in Brazil. Social participation was measured by the number of formal and informal social activities (requiring face-to-face interaction) participants were regularly involved in. Teeth were counted during clinical examinations and categorized as 0, 1-19, and 20+ teeth. Reports on vision and hearing impairments were classified into three categories (good, regular, and poor). The associations of each impairment with the 9-year change in the social participation score were tested in negative binomial mixed-effects models adjusting for time-variant and time-invariant covariates. RESULTS: Each impairment was associated with the baseline social participation score and the annual rate of change in the social participation score. Participants with 1-19 (incidence rate ratio: 0.96, 95% CI: 0.91-1.01) and no teeth (0.92, 95% CI: 0.87-0.97), those with regular (0.98, 95% CI: 0.95-1.01) and poor vision (0.86, 95% CI: 0.81-0.90), and those with regular (0.94, 95% CI: 0.91-0.98) and poor hearing (0.91, 95% CI: 0.87-0.95) had lower baseline social participation scores than those with 20+ teeth, good vision, and good hearing, respectively. Furthermore, participants with 1-19 (0.996, 95% CI: 0.990-1.002) and no teeth (0.994, 95% CI: 0.987-0.999), those with regular (0.996, 95% CI: 0.992-0.999) and poor vision (0.997, 95% CI: 0.991-1.003), and those with regular (0.997, 95% CI: 0.992-1.001) and poor hearing (0.995, 95% CI: 0.990-0.999) had greater annual declines in the social participation score than those with 20+ teeth, good vision and good hearing, respectively. CONCLUSION: This 9-year longitudinal study shows that tooth loss, vision, and hearing impairments are associated with reduced social participation among older adults.


Assuntos
Perda Auditiva , Perda de Dente , Humanos , Idoso , Participação Social , Brasil/epidemiologia , Estudos Longitudinais , Transtornos da Visão/complicações , Perda de Dente/epidemiologia , Perda de Dente/complicações , Perda Auditiva/epidemiologia , Perda Auditiva/complicações
9.
HLA ; 101(6): 634-646, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37005006

RESUMO

HLA-B is among the most variable gene in the human genome. This gene encodes a key molecule for antigen presentation to CD8+ T lymphocytes and NK cell modulation. Despite the myriad of studies evaluating its coding region (with an emphasis on exons 2 and 3), few studies evaluated introns and regulatory sequences in real population samples. Thus, HLA-B variability is probably underestimated. We applied a bioinformatics pipeline tailored for HLA genes on 5347 samples from 80 different populations, which includes more than 1000 admixed Brazilians, to evaluate the HLA-B variability (SNPs, indels, MNPs, alleles, and haplotypes) in exons, introns, and regulatory regions. We observed 610 variable sites throughout HLA-B; the most frequent variants are shared worldwide. However, the haplotype distribution is geographically structured. We detected 920 full-length haplotypes (exons, introns, and untranslated regions) encoding 239 different protein sequences. HLA-B gene diversity is higher in admixed populations and Europeans while lower in African ancestry individuals. Each HLA-B allele group is associated with specific promoter sequences. This HLA-B variation resource may improve HLA imputation accuracy and disease-association studies and provide evolutionary insights regarding HLA-B genetic diversity in human populations.


Assuntos
Imunogenética , Polimorfismo de Nucleotídeo Único , Humanos , Alelos , Haplótipos , Antígenos HLA-B/genética , Frequência do Gene
10.
Artigo em Inglês | MEDLINE | ID: mdl-36982006

RESUMO

Despite extensive research on overweight and obesity, there are few studies that present longitudinal statistical analyses among non-institutionalized older adults, particularly in low- and middle-income countries. This study aimed to assess the prevalence and factors associated with excess weight in older adults from the same cohort over a period of fifteen years. A total of 264 subjects aged (≥60 years) from the SABE survey (Health, Wellbeing and Aging) in the years 2000, 2006, 2010, and 2015 in the city of São Paulo, Brazil, were evaluated. Overweight was assessed by a BMI of ≥28 kg/m2. Multinomial logistic regression models adjusted for sociodemographic and health data were used to assess factors associated with excess weight. After normal weight, overweight was the most prevalent nutritional status in all evaluated periods: 34.02% in 2000 (95%CI: 28.29-40.26); 34.86% in 2006 (95%CI: 28.77-41.49%); 41.38% in 2010 (95%CI: 35.25-47.79); 33.75% in 2015 (95%CI: 28.02-40.01). Being male was negatively associated with being overweight in all years (OR: 0.34 in 2000; OR: 0.36 in 2006; OR: 0.27 in 2010; and OR: 0.43 in 2015). A greater number of chronic diseases and worse functionality were the main factors associated with overweight, regardless of gender, age, marital status, education, physical activity, and alcohol or tobacco consumption. Older adults with overweight and obesity, a greater number of chronic diseases, and difficulties in carrying out daily tasks required a greater commitment to healthcare. Health services must be prepared to accommodate this rapidly growing population in low- and middle-income countries.


Assuntos
Obesidade , Sobrepeso , Humanos , Masculino , Idoso , Feminino , Sobrepeso/epidemiologia , Seguimentos , Brasil/epidemiologia , Obesidade/epidemiologia , Inquéritos e Questionários , Aumento de Peso , Doença Crônica , Índice de Massa Corporal , Fatores de Risco , Prevalência
11.
Aging Ment Health ; 27(2): 417-424, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35023418

RESUMO

Objectives: Although the majority of older adults experience sexual satisfaction regardless of their sexual activity, there are few studies that address sexuality in aging, especially in Latin America. The objective of this study was to assess the prevalence of sexual activity and satisfaction among older adults in two time-points, as well as their sociodemographic and health predictors.Method: We analyze data from 1,464 older adults aged 60 years or over from the Health, Well-Being, and Aging (SABE) cohort study conducted in Brazil. Multivariable regression models were used to determinate the factors associated with sexual activity and sexual satisfaction, stratified by gender. Results: Among older adults, the prevalence of sexual activity was 48%, while the vast majority reported feeling sexually satisfied (80%). Men had more sexual activity than women, while women presented greater sexual satisfaction than men. After the follow-up, older adults that were married were more likely to have sexual activity. In women, being older than 71 years was associated with lower sexual activity. In men, those with mobility problems and depression were less likely to have sexual activity. Regarding sexual satisfaction, having depression remained a leading factor for lower sexual satisfaction in men.Conclusion: Despite beliefs, a high percentage of older adults reported being sexually active and feeling sexually satisfied. Our results highlight the gender difference in the predictors of sexual activity and sexual satisfaction. Since sexuality is important for well-being throughout life, preventing factors that decrease sexual activity and sexual satisfaction in aging could help improve the quality of life of older adults.


Assuntos
Qualidade de Vida , Comportamento Sexual , Masculino , Humanos , Feminino , Idoso , Brasil/epidemiologia , Estudos de Coortes , Envelhecimento , Satisfação Pessoal
13.
Dement. neuropsychol ; 17: e20220109, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1520811

RESUMO

ABSTRACT. Stress during aging is not uncommon and dysfunctional family relationships are important sources of stress in the elderly. Considering the potential stressor that family dysfunction represents, it is questioned whether prolonged exposure to dysfunctional family arrangements can contribute to cognitive decline in aging. Objective: To verify whether family dysfunction is a predictive factor of cognitive decline in aging. Methods: Secondary study with analysis of existing data from the longitudinal, population-based study "Health, Wellbeing and Aging" (SABE). Data from 791 elderly people from two cohorts of the SABE study between 2006 and 2015 were analyzed. Family dysfunction was assessed using the Apgar family instrument, while cognitive performance was assessed using the Mini-Mental State Examination (MMSE), verbal fluency (animals) and digit length in reverse order. Cognitive decline was measured by the difference in scores in the period between 2006 and 2015. Results: Approximately 10% of the sample had family dysfunction. The familial Apgar score was not associated with decline on MMSE (p=0.732), verbal fluency (p=0.852) and digit span scores (p=0.718). Scores related to cognition and family functionality, such as age, education, living alone, depression and family Apgar, do not explain cognitive decline. Conclusion: The findings indicate that family functioning is not associated with cognitive decline in community-dwelling elderly. New studies will be needed to analyze the qualitative characteristics of family relationships in the cognitive performance of the elderly.


RESUMO. O estresse ao longo do envelhecimento não é incomum, e as relações familiares disfuncionais constituem fontes importantes de estresse nos idosos. Considerando-se o potencial estressor que a disfunção familiar representa, questiona-se se a exposição prolongada a arranjos familiares disfuncionais pode contribuir para o declínio cognitivo no envelhecimento. Objetivo: Verificar se a disfunção familiar é um fator preditivo de declínio cognitivo no envelhecimento. Métodos: Estudo secundário com análise de dados provenientes do estudo longitudinal de base populacional "Saúde, Bem-estar e Envelhecimento" (SABE). Foram analisados dados de 791 idosos de duas coortes do estudo SABE no período entre 2006 e 2015. A disfunção familiar foi avaliada pelo instrumento Apgar familiar, enquanto o desempenho cognitivo foi avaliado pelo Miniexame do Estado Mental (MEEM), fluência verbal (animais) e extensão de dígitos na ordem inversa. O declínio cognitivo foi medido pela diferença dos escores entre 2006 e 2015. Resultados: Aproximadamente 10% da amostra apresentou disfunção familiar. O escore Apgar familiar não foi associado ao declínio cognitivo pelo MEEM (p=0,732), fluência verbal (p=0,852) e extensão de dígitos ao longo do tempo (p=0,718). Escores relacionados à cognição e funcionalidade familiar, como idade, escolaridade, morar sozinho, depressão e Apgar de família, não explicam o declínio cognitivo. Conclusão: Os achados mostram que a funcionalidade familiar não está associada ao declínio cognitivo de idosos da comunidade. Novos estudos serão necessários para analisar as características qualitativas das relações familiares no desempenho cognitivo de idosos.

14.
Sci Rep ; 12(1): 21240, 2022 12 08.
Artigo em Inglês | MEDLINE | ID: mdl-36481695

RESUMO

The inference of genetic ancestry plays an increasingly prominent role in clinical, population, and forensic genetics studies. Several genotyping strategies and analytical methodologies have been developed over the last few decades to assign individuals to specific biogeographic regions. However, despite these efforts, ancestry inference in populations with a recent history of admixture, such as those in Brazil, remains a challenge. In admixed populations, proportion and components of genetic ancestry vary on different levels: (i) between populations; (ii) between individuals of the same population, and (iii) throughout the individual's genome. The present study evaluated 1171 admixed Brazilian samples to compare the genetic ancestry inferred by tri-/tetra-hybrid admixture models and evaluated different marker sets from those with small numbers of ancestry informative markers panels (AIMs), to high-density SNPs (HDSNP) and whole-genome-sequence (WGS) data. Analyses revealed greater variation in the correlation coefficient of ancestry components within and between admixed populations, especially for minority ancestral components. We also observed positive correlation between the number of markers in the AIMs panel and HDSNP/WGS. Furthermore, the greater the number of markers, the more accurate the tri-/tetra-hybrid admixture models.


Assuntos
Genética Populacional , Humanos , Brasil , Grupos Minoritários , Polimorfismo de Nucleotídeo Único , População da América do Sul/genética , Sequenciamento Completo do Genoma
15.
BMC Geriatr ; 22(1): 931, 2022 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-36460961

RESUMO

BACKGROUND: Few studies have explored regional asymmetries and their implications for health policies regarding episodes of falls among the population of ≥80 years old in continental and developing countries like Brazil with deep inequalities and sociocultural differences. OBJECTIVE: To evaluate the occurrence of falls and their association with functional capacity and nutritional status in the longest oldest-old living in two municipalities in the Northeast and Southeast of Brazil. METHODS: This is a cross-sectional study, with primary data collection in which were included in the research seniors aged 80 years or more, of both sexes, belonging to two Brazilian municipalities of discrepant socioeconomic aspects. The dependent variable was the occurrence of falls in the last year. The independent variables were grouped into demographic aspects, functional capacity and nutritional status. To identify variables that contribute to the occurrence of falls, the multiple logistic regression model, adopts a significance level of 5%. RESULTS: The sample was composed of 415 oldest-old adults. From the total, 32.3% reported having fallen in the last year, 24.7% in Brejo dos Santos and 37.8% in São Paulo. Among the former population, the mean value of walking speed for those who had falls was 0.27 m/s and for those who had no occurrence of falls was 0.33 m/s; and, among the seniors from São Paulo, the mean values were 0.51 m/s and 0.58 m/s, respectively. Significant correlations between walking speed and falls were verified for both populations, showing that the lower the walking speed, the higher the predisposition to falls. In the final regression model, the occurrence of falls was associated with moderate balance (OR = 5.28; CI: 1.11-25.18) among the longevous people Brejo dos Santos and with very poor functional performance (OR = 16.09; CI:1.46-177.06) among those from São Paulo. CONCLUSION: The results pointed out a lower prevalence of falls in longevous people from Brejo dos Santos than in those from São Paulo and differences regarding the associated factors, showing heterogeneity between the two populations; indicating the need for public policies and effective programmes aimed at preventing falls based on the maintenance or increase of functional capacity.


Assuntos
Longevidade , Feminino , Masculino , Humanos , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Estudos Transversais , Coleta de Dados , Genótipo
16.
Braz J Phys Ther ; 26(4): 100431, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35944315

RESUMO

BACKGROUND: A better understanding of performance in functional mobility tasks related to the mortality patterns for the different causes of death for the Brazilian older population is still a challenge. OBJECTIVE: To analyze if gait speed and chair stand test performance are associated with mortality in older adults, and if the overall mobility status changes the effect of other mortality risk factors. METHODS: The data were from SABE (Health, Well-being and Aging Study), a multiple-cohort study conducted in São Paulo, Brazil, with a representative sample of people aged 60 and more. Cox regression models were used to analyze 10-year all-cause and cause-specific mortality with consideration for gait speed and the chair stand test. RESULTS: Of the 1411 participants, 26% died during the follow-up. The performance in the chair stand test had a more consistent association with mortality (hazard ratio (HR)=1.03, 95%CI: 1.00, 1.05) than gait speed. Being unable to perform the test also increased the risk to die by all-cause (HR=1.71, 95%CI: 1.21, 2.42) and by diseases of the circulatory system (HR=2.14, 95%CI: 1.25, 3.65). The stratified analysis of mobility performance changed the effects of some of the mortality risk factors, such as cognitive impairment and multimorbidity. CONCLUSIONS: The chair stand test could be a better choice than 3-meters walking test as a mortality predictor. In addition, the impact of cognitive decline and multimorbidity were greater among those with reduced mobility, supporting the development of preventive interventions and public policies targeted at more vulnerable groups of older adults.


Assuntos
Velocidade de Caminhada , Idoso , Brasil , Causas de Morte , Estudos de Coortes , Humanos , Pessoa de Meia-Idade , Fatores de Risco
17.
Cad Saude Publica ; 38(4): e00196821, 2022.
Artigo em Português | MEDLINE | ID: mdl-35508029

RESUMO

The study aimed to analyze the prevalence of self-reported limitation of functional mobility and associated factors from 2000 to 2015 in elderly residing in the city of São Paulo, Brazil. The analyses used data from the four waves (2000, 2006, 2010, and 2015) in the Health, Well-Being, and Aging Study (SABE). Regression models were conducted to analyze the demographic, socioeconomic, behavioral, and health-related characteristics of individuals associated with limitations of mobility in each wave of the study, and multilevel analysis was performed for comparison between the four waves. The results showed an increase in the prevalence of self-reported limitations in mobility, most evident in the year 2006. There was also an association between chronic health conditions such as history of stroke (PR = 1.43; 95%CI: 1.29; 1.58, in 2000), presence of osteoarticular diseases (PR = 1.35; 95%CI: 1.23; 1.49, in 2015), and complaint of "backache" (PR = 1.33; 95%CI: 1.22; 1.45, in 2006), as well as with socioeconomic aspects such as insufficient income (PR = 1.17; 95%CI: 1.07; 1.28, in 2010). In a context of rapid population aging, these results provide relevant information for promoting public policies to prevent the decline in mobility in the elderly.


Este estudo teve como objetivo analisar a prevalência de limitação na mobilidade funcional autorreferida e os fatores associados no período entre os anos 2000 e 2015, em idosos residentes no Município de São Paulo, Brasil. Para as presentes análises foram utilizados os dados das quatro ondas (2000, 2006, 2010 e 2015) do Estudo Saúde, Bem Estar e Envelhecimento (SABE). Foram conduzidos modelos de regressão para analisar as características demográficas, socioeconômicas, comportamentais e relativas à saúde dos indivíduos associadas à limitação da mobilidade em cada onda do estudo, e análise multinível para a comparação entre as quatro ondas. Os resultados indicaram aumento nas prevalências de limitações na mobilidade autorreferida, mais evidente no ano de 2006. Foi observado, ainda, associação com condições crônicas de saúde, como a história de AVC (RP = 1,43; IC95%: 1,29; 1,58, em 2000), a presença de doenças osteoarticulares (RP = 1,35; IC95%: 1,23; 1,49, em 2015), e a queixa de "dor nas costas" (RP = 1,33; IC95%: 1,22; 1,45, em 2006), bem como com aspectos socioeconômicos, como a renda insuficiente (RP = 1,17; IC95%: 1,07; 1,28, em 2010). Em um contexto de envelhecimento populacional acelerado, esses resultados trazem informações relevantes para a promoção de políticas públicas voltadas à prevenção de declínio da mobilidade em pessoas idosas.


Este estudio tuvo como objetivo analizar la prevalencia de limitación en la movilidad funcional autoinformada y sus factores asociados durante el período entre los años 2000 y 2015, en ancianos residentes en el Municipio de São Paulo, Brasil. Para los análisis actuales se utilizaron los datos de cuatro oleadas (2000, 2006, 2010 y 2015) del Estudio Salud, Bienestar y Envejecimiento (SABE). Se aplicaron modelos de regresión para analizar las características demográficas, socioeconómicas, comportamentales y relativas a la salud de los individuos, asociadas a la limitación de la movilidad en cada oleada del estudio, y un análisis multinivel para la comparación entre las 4 oleadas. Los resultados indicaron un aumento en las prevalencias de limitaciones respecto a la movilidad autoinformada, pero fue evidente en el año 2006. Se observó, incluso, una asociación con las condiciones crónicas de salud, como un historial de ACV (RP = 1,43; IC95%: 1,29; 1,58, en 2000), la presencia de enfermedades osteoarticulares (RP = 1,35; IC95%: 1,23; 1,49, en 2015), y la queja de "dolor de espalda" (RP = 1,33; IC95%: 1,22; 1,45, en 2006), así como con aspectos socioeconómicos, como la renta insuficiente (RP = 1,17; IC95%: 1,07; 1,28, en 2010). En un contexto de envejecimiento poblacional acelerado, esos resultados presentan información relevante para la promoción de políticas públicas dirigidas a la prevención del declive de la movilidad en personas ancianas.


Assuntos
Envelhecimento , Idoso , Brasil/epidemiologia , Humanos , Análise Multinível , Prevalência , Autorrelato , Fatores Socioeconômicos
18.
PLoS One ; 17(5): e0268519, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35588124

RESUMO

To identify difficulties in accessing health services by the elderly in the city of São Paulo/Brazil and the contributory factors that reflect inequalities. This is a cross-sectional study that used data from the Health, Well-being and Aging Study (SABE). The population is composed of elderly ≥ 60 years old, of both sexes, living in the urban area of São Paulo. For this analysis, we used data from the 2015 cohort of the SABE study, containing a sample of 1,221 individuals. The proportions of access difficulty and, through logistic regression, the associated factors were verified, based on Andersen's Behavioral Model, which considers factors of predisposition, enabling and need as individual determinants of access to health care. It was observed that 37.0% of the elderly reported difficulty accessing health services when they needed it. This difficulty was greatest among females (42.3%), aged 60 to 69 years (40.9%), black race/color (58.8%), illiterate (44.5%), single/separated/divorced (44.3%), with income slower than one salary minimum (46.8%), without health insurance (51.9%), with poor/very poor self-assessment of health (54.7%), with multimorbidity (40.1%), frail (47.2%) and among those who used polypharmacy (40.8%). After multivariate analysis, in the final model, there was a positive association between difficulty of access and predisposing factors (female gender, age group 60 to 69 years, black race/color, illiterate), enabling factors (possession of health insurance) and need factors (regular and poor/very poor self-assessment of health and pre-fragility and frailty condition). The presence of difficulty in access associated with predisposing, enabling and need factors reflect the existence of inequalities caused by barriers that point to weaknesses in the organization of services. The identification of these barriers that hinder access highlights important points that can have an impact on the equity and resolution of care.


Assuntos
Serviços de Saúde para Idosos , Serviços de Saúde , Idoso , Envelhecimento , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Socioeconômicos
19.
Nat Commun ; 13(1): 1004, 2022 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-35246524

RESUMO

As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS.


Assuntos
Genômica , Metagenômica , Idoso , Brasil/epidemiologia , Genoma Humano/genética , Genômica/métodos , Humanos , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do Genoma
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