ABSTRACT
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.
Subject(s)
Alleles , Ethnicity , Gene Frequency , Polymorphism, Single Nucleotide , Humans , Brazil , Ethnicity/genetics , HLA Antigens/genetics , Linkage Disequilibrium , Genome-Wide Association Study/methods , Genotype , Genetics, Population/methods , Histocompatibility Antigens Class I/genetics , Computational Biology/methodsABSTRACT
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.
ABSTRACT
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.
Subject(s)
Genetics, Population , Humans , Brazil , Minority Groups , Polymorphism, Single Nucleotide , South American People/genetics , Whole Genome SequencingABSTRACT
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.
Subject(s)
Genomics , Metagenomics , Aged , Brazil/epidemiology , Genome, Human/genetics , Genomics/methods , Humans , Polymorphism, Single Nucleotide , Whole Genome SequencingABSTRACT
HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents substantial nucleotide variability in its regulatory regions. However, it encodes a limited number of proteins compared to classical HLA class I genes. We characterized the HLA-G genetic variability in 4640 individuals from 88 different population samples across the globe by using a state-of-the-art method to characterize polymorphisms and haplotypes from high-coverage next-generation sequencing data. We also provide insights regarding the HLA-G genetic diversity and a resource for future studies evaluating HLA-G polymorphisms in different populations and association studies. Despite the great haplotype variability, we demonstrated that: (1) most of the HLA-G polymorphisms are in introns and regulatory sequences, and these are the sites with evidence of balancing selection, (2) linkage disequilibrium is high throughout the gene, extending up to HLA-A, (3) there are few proteins frequently observed in worldwide populations, with lack of variation in residues associated with major HLA-G biological properties (dimer formation, interaction with leukocyte receptors). These observations corroborate the role of HLA-G as an immune checkpoint molecule rather than as an antigen-presenting molecule. Understanding HLA-G variability across populations is relevant for disease association and functional studies.
Subject(s)
HLA-G Antigens/genetics , Polymorphism, Genetic , 3' Untranslated Regions , Alleles , Computational Biology , Dimerization , Evolution, Molecular , Gene Frequency , Genes, MHC Class I , Genetic Variation , Genetics, Population , Genotype , Global Health , Haplotypes , High-Throughput Nucleotide Sequencing , Humans , Immune Checkpoint Proteins/genetics , Immunogenetics , Introns , Linkage Disequilibrium , Polymorphism, Single NucleotideABSTRACT
Diagnosis of individuals affected by monogenic disorders was significantly improved by next-generation sequencing targeting clinically relevant genes. Whole exomes yield a large number of variants that require several filtering steps, prioritization, and pathogenicity classification. Among the criteria recommended by ACMG, those that rely on population databases critically affect analyses of individuals with underrepresented ancestries. Population-specific allelic frequencies need consideration when characterizing potential deleteriousness of variants. An orthogonal input for classification is annotation of variants previously classified as pathogenic as a criterion that provide supporting evidence widely sourced at ClinVar. We used a whole-genome dataset from a census-based cohort of 1,171 elderly individuals from São Paulo, Brazil, highly admixed, and unaffected by severe monogenic disorders, to investigate if pathogenic assertions in ClinVar are enriched with higher proportions of European ancestry, indicating bias. Potential loss of function (pLOF) variants were filtered from 4,250 genes associated with Mendelian disorders and annotated with ClinVar assertions. Over 1,800 single nucleotide pLOF variants were included, 381 had non-benign assertions. Among carriers (N = 463), average European ancestry was significantly higher than noncarriers (N = 708; p = .011). pLOFs in genomic contexts of non-European local ancestries were nearly three times less likely to have any ClinVar entry (OR = 0.353; p <.0001). Independent pathogenicity assertions are useful for variant classification in molecular diagnosis. However, European overrepresentation of assertions can promote distortions when classifying variants in non-European individuals, even in admixed samples with a relatively high proportion of European ancestry. The investigation and deposit of clinically relevant findings of diverse populations is fundamental improve this scenario.
Subject(s)
Genetic Variation , Genomics , Aged , Brazil , Exome , High-Throughput Nucleotide Sequencing , HumansABSTRACT
BACKGROUND/OBJECTIVES: Admixed populations are a resource to study the global genetic architecture of complex phenotypes, which is critical, considering that non-European populations are severely underrepresented in genomic studies. Here, we study the genetic architecture of BMI in children, young adults, and elderly individuals from the admixed population of Brazil. SUBJECTS/METHODS: Leveraging admixture in Brazilians, whose chromosomes are mosaics of fragments of Native American, European, and African origins, we used genome-wide data to perform admixture mapping/fine-mapping of body mass index (BMI) in three Brazilian population-based cohorts from Northeast (Salvador), Southeast (Bambuí), and South (Pelotas). RESULTS: We found significant associations with African-associated alleles in children from Salvador (PALD1 and ZMIZ1 genes), and in young adults from Pelotas (NOD2 and MTUS2 genes). More importantly, in Pelotas, rs114066381, mapped in a potential regulatory region, is significantly associated only in females (p = 2.76e-06). This variant is rare in Europeans but with frequencies of ~3% in West Africa and has a strong female-specific effect (95% CI: 2.32-5.65 kg/m2 per each A allele). We confirmed this sex-specific association and replicated its strong effect for an adjusted fat mass index in the same Pelotas cohort, and for BMI in another Brazilian cohort from São Paulo (Southeast Brazil). A meta-analysis confirmed the significant association. Remarkably, we observed that while the frequency of rs114066381-A allele ranges from 0.8 to 2.1% in the studied populations, it attains ~9% among women with morbid obesity from Pelotas, São Paulo, and Bambuí. The effect size of rs114066381 is at least five times higher than the FTO SNPs rs9939609 and rs1558902, already emblematic for their high effects. CONCLUSIONS: We identified six candidate SNPs associated with BMI. rs114066381 stands out for its high effect that was replicated and its high frequency in women with morbid obesity. We demonstrate how admixed populations are a source of new relevant phenotype-associated genetic variants.
Subject(s)
Body Mass Index , Genetics, Population , Polymorphism, Single Nucleotide , Aged , Aged, 80 and over , Alleles , Brazil , Child , Child, Preschool , Chromosome Mapping , Female , Humans , Male , Middle Aged , Phenotype , Regulatory Sequences, Nucleic Acid , Sex Factors , Young AdultABSTRACT
Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective: To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. Patients and Methods: We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. Results: We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P < 0.001). Identified IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Conclusion: Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH.
Subject(s)
Dwarfism/genetics , Hedgehog Proteins/genetics , Human Growth Hormone/therapeutic use , Musculoskeletal Abnormalities/genetics , Mutation , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , DNA Mutational Analysis , Dwarfism/complications , Family , Female , Gene Frequency , Hormone Replacement Therapy , Humans , Infant , Male , Musculoskeletal Abnormalities/complications , Pedigree , Treatment Outcome , Young AdultABSTRACT
INTRODUCTION AND HYPOTHESIS: Double Incontinence (DI) is incontinence of urine and stool and is an extreme manifestation of pelvic floor dysfunction. The objective of this study was to estimate the prevalence and incidence of DI and the risk factors in elderly women in São Paulo, Brazil. METHODS: This was a prospective study in women aged 65 years or older evaluated in 2006 and re-evaluated in 2010. The sample was selected by two-phase stratified sampling with replacement and probability proportional to size. The likelihood ratio test was performed and Cox regression curves were generated to evaluate the equality of survival. Poisson's regression was used to evaluate risk factors. RESULTS: This is the first study on the incidence of DI in elderly women. A total of 864 elderly women were interviewed in 2006. The prevalence rate of DI was 4.9%. The incidence rate of DI in the period between 2006 and 2010 was 13.8/1,000 person-years. Associated factors were the presence of chronic obstructive pulmonary disease, hypertension, difficulty with basic activities of daily living (BADL) and instrumental activities of daily living (IADL), polypharmacy and falls in the last year. Poisson's regression analysis showed that falls in the last year and difficulty with at least three IADL were risk factors for DI. CONCLUSIONS: The incidence of DI seems to be high in this population. Falls in the last year and difficulty with at least three IADL were identified as risk factors. Preventive measures must be implemented with public health policies to prevent increases in DI.
Subject(s)
Fecal Incontinence/epidemiology , Pelvic Floor Disorders/complications , Urinary Incontinence/epidemiology , Activities of Daily Living , Age Factors , Aged , Aged, 80 and over , Brazil/epidemiology , Fecal Incontinence/etiology , Female , Geriatric Assessment , Humans , Incidence , Poisson Distribution , Prevalence , Proportional Hazards Models , Regression Analysis , Risk Factors , Urinary Incontinence/etiologyABSTRACT
OBJECTIVE: To analyze gender differences in incidence and determinants of the components of the frailty phenotype. METHOD: A total of 1,413 older adults were selected in 2006. To estimate the incidence of each frailty component, only individuals who did not exhibit a given component at baseline (independently of the presence of other components) were included in the study. The variables of interest were socioeconomic, behavioral, clinical, anthropometric factors and physical performance. The incidence of each component in 2010 was the outcome. RESULTS: Unintentional weight loss and slowness were more incident in men up to 74 years of age. The other frailty components were more incident in women at all age groups, except weakness. Besides age, the determinants of incidence of the components of frailty were different between genders. DISCUSSION: Strategies for preventing or delaying the installation of frailty need to address gender differences, considering the greater complexity in the network determinants among women.
Subject(s)
Frail Elderly/statistics & numerical data , Frailty , Muscle Weakness , Weight Loss , Aged , Aged, 80 and over , Brazil/epidemiology , Female , Frailty/diagnosis , Frailty/epidemiology , Frailty/genetics , Humans , Incidence , Male , Phenotype , Sex Factors , Socioeconomic FactorsABSTRACT
BACKGROUND: Although a reduced glomerular filtration rate (GFR) in old people has been attributed to physiologic aging, it may be associated with kidney disease or superimposed comorbidities. This study aims to assess the prevalence of decreased GFR in a geriatric population in a developing country and its prevalence in the absence of simultaneous diseases. STUDY DESIGN AND METHODS: This is a cross-sectional study of data from the Saúde, Bem-Estar e Envelhecimento cohort study (SABE study[Health, Well-Being and Aging]), a multiple cohorts study. A multistage cluster sample composed of 1,253 individuals representative of 1,249,388 inhabitants of São Paulo city aged ≥60 years in 2010 was analyzed. The participants answered a survey on socio-demographic factors and health, had blood pressure measured and urine and blood samples collected. GFR was estimated and defined as decreased when <60 mL/min/1.73m2. Kidney damage was defined as dipstick-positive hematuria or urinary protein:creatinine > 0.20 g/g. RESULTS: The prevalence of GFR <60 mL/min/1.73m2 was 19.3%. Individuals with GFR <60 mL/min/1.73m2 were older (75±1 versus 69±1 years, p<0.001), had lower schooling (18 versus 30% with complete 8-year basic cycle, p = 0.010), and higher prevalence of hypertension (82 versus 63%, p<0.001), diabetes (34 versus 26%, p = 0.021), cardiovascular disease (43 versus 24%, p<0.001) and kidney damage (35% versus 15%, p<0.001). Only 0.7% of the entire studied population had GFR <60 mL/min/1.73m2 without simultaneous diseases or kidney damage. Among the individuals with GFR <60 mL/min/1.73m2, 3.5% had neither renal damage nor associated comorbidities, whereas among those with GFR ≥60 mL/min/1.73m2, 11.0% had none of these conditions. Logistic regression showed that older age, cardiovascular disease and hypertension were associated with GFR<60 mL/min/1.73m2. CONCLUSIONS: Decreased GFR was highly prevalent among the geriatric population in a megalopolis of a developing country. It was rarely present without simultaneous chronic comorbidities or kidney damage.
Subject(s)
Aging/physiology , Glomerular Filtration Rate/physiology , Aged , Aged, 80 and over , Comorbidity , Diabetes Mellitus/physiopathology , Female , Humans , Hypertension/physiopathology , Male , Metabolic Syndrome/physiopathology , Middle AgedABSTRACT
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet still underrepresented in genomic databanks. We hereby present a collection of exomic variants from 609 elderly Brazilians in a census-based cohort (SABE609) with comprehensive phenotyping. Variants were deposited in ABraOM (Online Archive of Brazilian Mutations), a Web-based public database. Population representative phenotype and genotype repositories are essential for variant interpretation through allele frequency filtering; since elderly individuals are less likely to harbor pathogenic mutations for early- and adult-onset diseases, such variant databases are of great interest. Among the over 2.3 million variants from the present cohort, 1,282,008 were high-confidence calls. Importantly, 207,621 variants were absent from major public databases. We found 9,791 potential loss-of-function variants with about 300 mutations per individual. Pathogenic variants on clinically relevant genes (ACMG) were observed in 1.15% of the individuals and were correlated with clinical phenotype. We conducted incidence estimation for prevalent recessive disorders based upon heterozygous frequency and concluded that it relies on appropriate pathogenicity assertion. These observations illustrate the relevance of collecting demographic data from diverse, poorly characterized populations. Census-based datasets of aged individuals with comprehensive phenotyping are an invaluable resource toward the improved understanding of variant pathogenicity.
Subject(s)
Exome , Genetics, Population , Aged , Aged, 80 and over , Aging , Alleles , Brazil , Cohort Studies , Computational Biology , Databases, Genetic , Ethnicity , Female , Gene Frequency , Genetic Variation , Genotype , Heterozygote , Humans , Incidence , Male , Middle Aged , Mutation , PhenotypeABSTRACT
OBJECTIVE: To analyze whether socioeconomic and health conditions during childhood are associated with mortality during old age. METHODS: Data were extracted from the SABE Study (Saúde, Bem-estar e Envelhecimento - Health, Welfare and Aging), which were performed in 2000 and 2006. The sample consisted of 2004 (1,355 living and 649 dead) older adults. The statistical analysis was performed based on Poisson regression models, taking into account the time variation of risk observed. Older adults' demographic characteristics and life conditions were evaluated, as were the socioeconomic and lifestyle conditions they acquired during their adult life. RESULTS: Only the area of residence during childhood (rural or urban) remained as a factor associated with mortality at advanced ages. However, this association lost significance when the variables acquired during adulthood were added to the model. CONCLUSIONS: Despite the information regarding the conditions during childhood being limited and perhaps not accurately measure the socioeconomic status and health in the first years of life, the findings of this study suggest that improving the environmental conditions of children and creating opportunities during early adulthood may contribute to greater survival rates for those of more advanced years.
Subject(s)
Disabled Persons/statistics & numerical data , Life Style , Mortality/trends , Adolescent , Adolescent Development , Adult , Age Factors , Aged , Aged, 80 and over , Aging , Brazil , Child Development , Child, Preschool , Family Characteristics , Female , Humans , Male , Middle Aged , Residence Characteristics , Socioeconomic Factors , Survival RateABSTRACT
ABSTRACT OBJECTIVE: To analyze whether socioeconomic and health conditions during childhood are associated with mortality during old age. METHODS: Data were extracted from the SABE Study (Saúde, Bem-estar e Envelhecimento - Health, Welfare and Aging), which were performed in 2000 and 2006. The sample consisted of 2004 (1,355 living and 649 dead) older adults. The statistical analysis was performed based on Poisson regression models, taking into account the time variation of risk observed. Older adults' demographic characteristics and life conditions were evaluated, as were the socioeconomic and lifestyle conditions they acquired during their adult life. RESULTS: Only the area of residence during childhood (rural or urban) remained as a factor associated with mortality at advanced ages. However, this association lost significance when the variables acquired during adulthood were added to the model. CONCLUSIONS: Despite the information regarding the conditions during childhood being limited and perhaps not accurately measure the socioeconomic status and health in the first years of life, the findings of this study suggest that improving the environmental conditions of children and creating opportunities during early adulthood may contribute to greater survival rates for those of more advanced years.
RESUMO OBJETIVO: Analisar se as condições socioeconômicas e de saúde na infância estão associadas à mortalidade em idosos. MÉTODOS: Utilizaram-se os dados do Estudo SABE (Saúde, Bem-estar e Envelhecimento) realizado em 2000 e 2006. A amostra foi composta por 2004 idosos, sendo 1.355 idosos sobreviventes e 649 óbitos. Modelos de Regressão de Poisson foram estimados, levando-se em consideração a variação do tempo de risco. Foram avaliadas características demográficas, condições no início da vida do idoso e condições socioeconômicas e de estilo de vida adquiridos na fase adulta. RESULTADOS: Situação de residência (rural ou urbano) quando criança associou-se à mortalidade nas idades avançadas. No entanto, essa variável perdeu significância quando variáveis que representam características adquiridas na fase adulta foram adicionadas ao modelo. CONCLUSÕES: Mesmo que as informações disponíveis sobre condições na infância sejam limitadas e possam não medir com precisão o status socioeconômico e de saúde nos primeiros anos de vida, os achados sugerem que melhorias nas condições ambientais das crianças e a criação de oportunidades no início da vida adulta podem contribuir para maior sobrevivência nas idades mais avançadas.
Subject(s)
Humans , Male , Female , Child, Preschool , Adolescent , Adult , Aged , Aged, 80 and over , Mortality/trends , Disabled Persons/statistics & numerical data , Life Style , Socioeconomic Factors , Brazil , Aging , Child Development , Residence Characteristics , Family Characteristics , Survival Rate , Age Factors , Adolescent Development , Middle AgedABSTRACT
OBJECTIVE: To analyze similarities among factors associated with the components of frailty in elderly. METHOD: We studied 1,413 elderly from the second wave of the SABE Study in 2006. Each of the five components of the frailty phenotype was considered a dependent variable in the hierarchical logistic regression models. RESULTS: In both genders, age, schooling, sedentary lifestyle, and screening positive for depression were associated similarly with more than one component of frailty. Other similarities were also observed with stroke and screening positive for cognitive decline in men, and number of diseases and gait speed in women. The most similar associations happened between weakness and slowness; weakness, slowness, and LPAL; or weakness, slowness, and exhaustion. DISCUSSION: Encouraging physical activity, screening for and treating depression and treating both diseases of the central nervous system and chronic diseases must be the focus of strategies to avoid, delay, or even remedy frailty.
Subject(s)
Depression/diagnosis , Frail Elderly/psychology , Frail Elderly/statistics & numerical data , Health Status , Sedentary Behavior , Age Factors , Aged , Brazil , Educational Status , Female , Gait/physiology , Humans , Male , Qualitative Research , Risk Factors , Sex FactorsABSTRACT
This study aimed to analyze the association between mortality and marital status in the elderly population (60 years and older) in São Paulo, Brazil. The authors used data from the SABE Study (Health, Well-Being, and Aging) from 2000 and 2006. Statistical analysis used Poisson regression, considering variation in time of mortality risk. The mortality rate among single elderly males was 61% higher than among married men. Separation or divorce and widowhood increased the odds of death in elderly women (separated/divorced women and widows showed mortality rates 82% and 35% higher, respectively, than married women). It is hoped that the current study will improve our understanding of factors associated with survival in the elderly, in addition to supporting health policies for this population group.
Subject(s)
Marital Status/statistics & numerical data , Mortality , Aged , Brazil/epidemiology , Cities/epidemiology , Female , Humans , Male , Marriage , Poisson Distribution , Surveys and QuestionnairesABSTRACT
Este trabalho tem como objetivo analisar, para a população com 60 anos e mais, residente no Município de São Paulo, Brasil, a associação entre mortalidade e estado marital. Para atingir o objetivo proposto, foram utilizados os dados do Estudo SABE: Saúde, Bem-estar e Envelhecimento (SABE), realizado nos anos 2000 e 2006, e modelos de Regressão de Poisson foram estimados, levando-se, em consideração, a variação do tempo de risco de morte. No geral, os resultados indicam que, entre os idosos paulistanos do sexo masculino, a taxa de mortalidade dos solteiros é 61% maior que a taxa de mortalidade observada para os casados. Por sua vez, a separação/divórcio ou a viuvez parece elevar a chance de morte das mulheres idosas analisadas. No geral, idosas separadas e viúvas apresentaram taxas de mortalidade 82% e 35% maiores que a observada para as casadas. Espera-se que este trabalho possa contribuir para um melhor entendimento dos fatores associados à sobrevivência dos idosos, além de subsidiar políticas de saúde voltadas para esse contingente populacional.
This study aimed to analyze the association between mortality and marital status in the elderly population (60 years and older) in São Paulo, Brazil. The authors used data from the SABE Study (Health, Well-Being, and Aging) from 2000 and 2006. Statistical analysis used Poisson regression, considering variation in time of mortality risk. The mortality rate among single elderly males was 61% higher than among married men. Separation or divorce and widowhood increased the odds of death in elderly women (separated/divorced women and widows showed mortality rates 82% and 35% higher, respectively, than married women). It is hoped that the current study will improve our understanding of factors associated with survival in the elderly, in addition to supporting health policies for this population group.
Este trabajo tiene como objetivo analizar la asociación entre el estado civil y la mortalidad, entre la población de 60 años o más que vive en São Paulo, Brasil. Para alcanzar ese objetivo, se utilizaron los datos del Estudio SABE (Salud, Bienestar y Envejecimiento), realizado en 2000 y 2006, y los modelos de regresión de Poisson se estimaron teniendo en cuenta la variación tiempo en el riesgo de muerte. En general, los resultados indican que, entre los ancianos de sexo masculino en São Paulo, la tasa de mortalidad de solteros es un 61% más alta que la tasa de mortalidad observada para los casados. A su vez, la separación/divorcio o viudez parece aumentar el riesgo de muerte de las mujeres ancianas. En general, las ancianas separadas y viudas presentaron tasas de mortalidad un 82% y un 35% mayores que la observada para las casadas. Se espera que este trabajo contribuya a una mejor comprensión de los factores asociados con la supervivencia de los ancianos, además de apoyar las políticas de salud dirigidas a este contingente de población.
Subject(s)
Aged , Female , Humans , Male , Mortality , Marital Status/statistics & numerical data , Brazil/epidemiology , Cities/epidemiology , Marriage , Poisson Distribution , Surveys and QuestionnairesABSTRACT
OBJETIVO: Analisar fatores epidemiológicos e sociodemográficos associados à saúde de idosos com ou sem plano de saúde. MÉTODOS: Foram realizadas entrevistas com 2.143 pessoas de 60 anos e mais, no município de São Paulo, em 2000 e 2006. A variável dependente, dicotômica, foi ter ou não plano de saúde. As variáveis independentes abrangeram características sociodemográficas e de condição de saúde. Foram descritas as proporções encontradas para as variáveis analisadas e desenvolvido modelo de regressão logística que considerou significantes as variáveis com p < 0,05. RESULTADOS: Houve diferenças, favoráveis aos titulares de planos, para renda e escolaridade. O grupo sem planos privados realizou menos prevenção contra neoplasias e mais contra doenças respiratórias; esperou mais para ter acesso a consultas de saúde; realizou menos exames pós-consulta; referiu menor número de doenças; teve maior proporção de avaliação negativa da própria saúde e relatou mais episódios de queda. Os titulares de planos relataram menor adesão à vacinação e, dentre os que foram internados, 11,1% em 2000 e 17,9% em 2006 tiveram esse procedimento custeado pelo Sistema Único de Saúde. A única doença associada à condição de titular de plano privado foi a osteoporose. CONCLUSÕES: Há diferenças representadas pela renda e pela escolaridade favoráveis aos titulares de planos e seguros privados, as quais estão relacionadas com o uso de serviços e com os determinantes sociais de saúde.
OBJECTIVE: To examine sociodemographic and epidemiological factors associated with private health insurance coverage in the elderly. METHODS: A total of 2,143 individuals aged 60 years or more were interviewed in the city of São Paulo in 2000 and 2006. Having private health insurance was the dichotomous dependent variable. Independent variables included sociodemographic characteristics and self-reported health status. The proportions of the variables studied were described and a logistic regression model considering those variables significant at p < 0.05 was constructed. RESULTS: The elderly with private insurance coverage had significantly higher income and education. The elderly with no private insurance were screened less for cancer and more for respiratory diseases; they waited longer for appointments; they performed less medical tests; they reported fewer conditions and more falls and had a more negative self-rated health. The insured respondents reported lower vaccination rates and, among those hospitalized, 11.1% had their medical costs covered by the Brazilian National Health System (SUS) in 2000 and 17.9% in 2006. Osteoporosis was the single condition associated with private health insurance. CONCLUSIONS: The elderly with private insurance coverage had significantly higher income and education than those with no private coverage, and these differences were associated with service utilization and social determinants of health.
OBJETIVO: Analizar factores epidemiológicos y sociodemográficos asociados a la salud de ancianos con o sin seguro de salud. MÉTODOS: Se realizaron entrevistas con 2.143 personas de 60 años y más, en el municipio de Sao Paulo, en 2000 y 2006. La variable dependiente, dicotómica, fue tener o no póliza de salud. Las variables independientes abarcaron características sociodemográficas y de condición de salud. Se describieron las proporciones encontradas para las variables analizadas y se desarrolló modelo de regresión logística que consideró significantes las variables con p < 0,05. RESULTADOS: Hubo diferencias, favorables a los titulares de pólizas, para renta y escolaridad. El grupo sin seguros privados realizó menos prevención contra neoplasias y más contra enfermedades respiratorias; esperó más para tener acceso a consultas de salud; realizó menos exámenes post-consulta; refirió menor número de enfermedades; tuvo mayor proporción de evaluación negativa de la propia salud y relató más episodios de caídas. Los titulares de pólizas relataron menor adhesión a la vacunación y, entre los que fueron internados, 11,1%, en 2000 y 17,9% en 2006 tuvieron ese procedimiento costeado por el Sistema Único de Salud Brasileño. La única enfermedad asociada a la condición de titular de seguro privado fue la osteoporosis. CONCLUSIONES: Hay diferencias representadas por la renta y por la escolaridad favorables a los titulares de pólizas y seguros privados, y estas están relacionadas con el uso de servicios y con los determinantes sociales de salud.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Health Services for the Aged/statistics & numerical data , Insurance Coverage/statistics & numerical data , Prepaid Health Plans/statistics & numerical data , Private Sector , Socioeconomic Factors , Age Distribution , Brazil , Cohort Studies , Educational Status , Income , Sex Distribution , Time Factors , Waiting ListsABSTRACT
OBJECTIVE: To examine sociodemographic and epidemiological factors associated with private health insurance coverage in the elderly. METHODS: A total of 2,143 individuals aged 60 years or more were interviewed in the city of São Paulo in 2000 and 2006. Having private health insurance was the dichotomous dependent variable. Independent variables included sociodemographic characteristics and self-reported health status. The proportions of the variables studied were described and a logistic regression model considering those variables significant at p < 0.05 was constructed. RESULTS: The elderly with private insurance coverage had significantly higher income and education. The elderly with no private insurance were screened less for cancer and more for respiratory diseases; they waited longer for appointments; they performed less medical tests; they reported fewer conditions and more falls and had a more negative self-rated health. The insured respondents reported lower vaccination rates and, among those hospitalized, 11.1% had their medical costs covered by the Brazilian National Health System (SUS) in 2000 and 17.9% in 2006. Osteoporosis was the single condition associated with private health insurance. CONCLUSIONS: The elderly with private insurance coverage had significantly higher income and education than those with no private coverage, and these differences were associated with service utilization and social determinants of health.