RESUMO
Traditionally, adult children have served as primary caretakers and providers for older Nepali adults. However, out-migration of adult children for employment and other opportunities is increasing. Health-related quality of life (HRQOL) in older Nepali adults in general and in the context of adult children's migration is poorly understood. This study aims to assess HRQOL of older Nepali adults and its relationship with adult children's migration. We used existing cross-sectional survey data on 260 older adults from Krishnapur municipality, which has witnessed a high rate of adult migration. HRQOL, quantified using the SF-12 scale, is expressed in terms of a physical (PCS) and mental (MCS) health component. A higher PCS and MCS score, each ranging from 0 to 100, indicates better physical and mental health, respectively. The correlates of HRQOL were assessed in simple and multiple linear regression. Participants had suboptimal HRQOL [mean (± SD): PCS = 40.4 ± 9.2 and MCS = 45.2 ± 7.7]. After adjusting for covariates, adult children's migration was associated with lower MCS scores (ß: -2.33, 95%CI: -4.21, -0.44). Individuals with more than one child had higher MCS scores (ß: 2.14, 95%CI: 0.19, 4.09). Females (ß: -3.64, 95%CI: -7.21, -0.06) and those with a history of unemployment (ß: -6.36, 95%CI: -10.57, -2.15) had lower PCS scores than their respective counterparts. The presence of chronic conditions was associated with significantly lower PCS and MCS scores. Our findings suggest that adult children's migration may negatively affect HRQOL among older Nepali adults, specifically their psychological well-being. Further research investigating potential moderating factors that may serve as important buffers is needed.
Assuntos
Filhos Adultos , Nível de Saúde , Qualidade de Vida , Humanos , Qualidade de Vida/psicologia , Feminino , Masculino , Nepal , Estudos Transversais , Idoso , Pessoa de Meia-Idade , Filhos Adultos/psicologia , Inquéritos e Questionários , Saúde Mental , Idoso de 80 Anos ou mais , Emigração e ImigraçãoRESUMO
OBJECTIVES: We report cross-sectional, objectively measured physical activity data for 399 children and adolescents aged 6 to 18 years. We evaluated physical activity of children and adolescents, considered time spent in each activity intensity category, and explored the impact of growth disruption (stunting and wasting) on physical activity patterns. METHODS: Participants wore an Actical (Mini-Mitter, Bend, OR) omnidirectional accelerometer for one week as part of their annual visit to the Jiri Growth Study. The percentage of time spent in standard activity intensities were computed using standard metabolic equivalents (METS) cutpoints and compared by chronological age, sex, and school versus non-school days. RESULTS: Primary findings include (1) children are more active on non-school days and adolescents are more active during the school week; (2) Jirel children do not exhibit the reduction in physical activity that most Western populations experience during the transition from childhood to adolescence; and (3) Jirel children and adolescents routinely meet the suggested one hour/day MVPA threshold; (4) Stunting is prevalent and factors leading to this growth disruption may contribute to the amount of time in sedentary or light physical activity. CONCLUSIONS: We report child and adolescent physical activity patterns from the Jirel population of eastern Nepal. In this rural context, children and adolescents are more active than populations reported from Western contexts. This key finding has important biomedical implications for the maintenance of healthy body composition, skeletal health, and other health traits.
Assuntos
Atividade Motora , Acelerometria , Adolescente , Fatores Etários , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Nepal , População Rural , Instituições Acadêmicas , Fatores Sexuais , Fatores de TempoRESUMO
More than 80% of Bhutanese refugees have resettled in the United States. Social support can lead to better resilience against poor mental health outcomes among this population. This study assessed the role of social support on mental health among the resettled Bhutanese adults in Central Ohio. This study used data collected by the Ohio Department of Mental Health and Addiction Services on 200 Bhutanese adults in Columbus. Social support was measured using a 12-item perceived social support scale. The 25-item Hopkins Symptoms Checklist was used to quantify depression and anxiety experienced in the past month. One-in-three participants reported mental health problems. Compared to participants with high social support, those with medium (OR 5.28, 95% CI 2.09-13.37) and low social support (OR 10.94, 95% CI 2.53-47.33) had more than 5- and 10-fold increased odds of mental health problems respectively. Future studies could further explore the role of social support on mental health during relocation, resettlement, and acculturation processes.
Assuntos
Saúde Mental , Refugiados , Adulto , Humanos , Estados Unidos , Ohio , Butão , Apoio SocialRESUMO
OBJECTIVES: There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies. METHODS: The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand-wrist radiographs have been taken to examine skeletal development. Nearly 2,130 individuals (969 males; 1,161 females) were phenotyped for BDD/BDE. Of these, 1,722 individuals (773 males; 949 females) were genotyped for 371 STR markers spanning the autosomal genome. Variance components-based linkage analysis was used to conduct a genome-wide linkage scan for QTL influencing the BDD/BDE phenotype. RESULTS: BDD was present in 3.55%, and BDE was present in 0.39%, of the study sample. Because of the phenotypic overlap between two traits, affecteds of either type were considered as affected by a single combined phenotype (BDD/BDE) having a prevalence of 3.94%. The additive genetic heritability of BDD/BDE was highly significant (h(2) ± SE = 0.89 ± 0.13; P = 1.7 × 10(-11) ). Significant linkage of BDD/BDE was found to markers on chromosome 7p21-7p14 (peak LOD score = 3.74 at 7p15 between markers D7S493 and D7S516). CONCLUSIONS: Possible positional candidate genes in the one-lod support interval of this QTL include TWIST and the HOXA1-A13 cluster. This is the first study to report significant linkage results for BDD/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1-A13 cluster may contribute to these specific skeletal anomalies.
Assuntos
Braquidactilia/genética , Dedos/anormalidades , Escore Lod , Adolescente , Adulto , Braquidactilia/epidemiologia , Braquidactilia/etnologia , Criança , Pré-Escolar , Mapeamento Cromossômico , Feminino , Genótipo , Humanos , Masculino , Nepal/epidemiologia , Locos de Características Quantitativas , Característica Quantitativa HerdávelRESUMO
OBJECTIVE: Brachymesophalangia-V (BMP-V), the general term for a short and broad middle phalanx of the 5th digit, presents both alone and in a large number of complex brachydactylies and developmental disorders. Past anthropological and epidemiological studies of growth and development have examined the prevalence of BMP-V because small developmental disorders may signal more complex disruptions of skeletal growth and development. Historically, however, consensus on qualitative phenotype methodology has not been established. In large-scale, non-clinical studies such as the Fels Longitudinal Study and the Jiri Growth Study, quantitative assessment of the hand is not always the most efficient manner of screening for skeletal dysmorphologies. The current study evaluates qualitative phenotyping techniques for BMP-V used in past anthropological studies of growth and development to establish a useful and reliable screening method for large study samples. METHODS: A total of 1,360 radiographs from Jiri Growth Study participants aged 3-18 years were evaluated. BMP-V was assessed using three methods: (1) subjective evaluation of length and width of the bone; (2) comparison with skeletal age-matched radiographs; and (3) subjective evaluation of the length of the middle 4th and 5th phalanges. RESULTS: We found that the method that uses skeletal age-matched reference radiographs is the better tool for assessing BMP-V because it considers the shape, rather than solely the length and width of the bone, which can be difficult to judge accurately without measurement. This study highlights the complexity of phenotypic assessment of BMP-V and by extension other brachydactylies.
Assuntos
Antropometria/métodos , Braquidactilia/diagnóstico por imagem , Falanges dos Dedos da Mão/anormalidades , Dedos/anormalidades , Adolescente , Braquidactilia/epidemiologia , Criança , Pré-Escolar , Feminino , Falanges dos Dedos da Mão/diagnóstico por imagem , Dedos/diagnóstico por imagem , Humanos , Estudos Longitudinais , Masculino , Nepal/epidemiologia , Fenótipo , Prevalência , RadiografiaRESUMO
Like many countries, the increase in the population of older adults in Nepal has led to national policies and programs to address their needs. It would, however, also be fair to say that not enough is yet known about older adults and hence it is unclear if government programs truly address those needs. Nepal is a very poor country that is still largely rural and characterized by extremes of inequality based on caste/ethnicity, gender, region, and income/wealth. In this paper, we describe the demographic and social conditions of older adults in Nepal, inequality, sources, and limitations of the data about older adults, and public policy and programs for older adults. We believe that studies of older adults in Nepal would benefit from adopting social determinants of health, healthy aging, and life-course perspectives to both identify needs and formulate policy for older adults in Nepal.
Assuntos
População Rural , Classe Social , Idoso , Humanos , Nepal/epidemiologia , Política Pública , Fatores SocioeconômicosRESUMO
This study examined factors influencing health information and mental health support seeking among individuals in U.S. prisons using the 2014 data from the Programme for the International Assessment of Adult Competencies. Results showed that not only are age, race, health status, receiving health information (e.g., from health experts, friends, and other incarcerated individuals), and readiness to learn associated with health information seeking from the media, but so too are competencies such as literacy, numeracy, and problem-solving skills. Years of education moderated the association between social trust and seeking mental health support. In addition, gender, work duration, and attending substance abuse support groups, life skills groups, and religious groups are associated with seeking mental health support in prisons. Findings from this study may provide insight for correctional health stakeholders working in partnership to deliver more tailored health and mental health interventions in U.S. prison settings.
Assuntos
Prisioneiros , Transtornos Relacionados ao Uso de Substâncias , Adulto , Humanos , Comportamento de Busca de Informação , Saúde Mental , Prisioneiros/psicologia , PrisõesRESUMO
Patterns of genetic variation and covariation impact the evolution of the craniofacial complex and contribute to clinically significant malocclusions in modern human populations. Previous quantitative genetic studies have estimated the heritabilities and genetic correlations of skeletal and dental traits in humans and nonhuman primates, but none have estimated these quantitative genetic parameters across the dentognathic complex. A large and powerful pedigree from the Jirel population of Nepal was leveraged to estimate heritabilities and genetic correlations in 62 maxillary and mandibular arch dimensions, incisor and canine lengths, and post-canine tooth crown areas (N ≥ 739). Quantitative genetic parameter estimation was performed using maximum likelihood-based variance decomposition. Residual heritability estimates were significant for all traits, ranging from 0.269 to 0.898. Genetic correlations were positive for all trait pairs. Principal components analyses of the phenotypic and genetic correlation matrices indicate an overall size effect across all measurements on the first principal component. Additional principal components demonstrate positive relationships between post-canine tooth crown areas and arch lengths and negative relationships between post-canine tooth crown areas and arch widths, and between arch lengths and arch widths. Based on these findings, morphological variation in the human dentognathic complex may be constrained by genetic relationships between dental dimensions and arch lengths, with weaker genetic correlations between these traits and arch widths allowing for variation in arch shape. The patterns identified are expected to have impacted the evolution of the dentognathic complex and its genetic architecture as well as the prevalence of dental crowding in modern human populations.
Assuntos
Má Oclusão , Animais , Arco Dental , Humanos , Funções Verossimilhança , Maxila/anatomia & histologia , Nepal , Coroa do DenteRESUMO
Glaucoma is one of the leading causes of blindness worldwide with individuals in Asia disproportionately affected. Using a cross-sectional study design as part of the Jiri Eye Study, we assessed the prevalence of glaucoma in the Jirel population of Nepal and provide new information on the occurrence of glaucoma in south central Asia. Over a four-year period, 2,042 members of the Jirel population, aged 18 years and older, underwent a detailed ocular examination. Glaucoma was diagnosed using the International Society of Geographical and Epidemiological Ophthalmology criteria. The mean (SD) age at exam was 42.3 (16.7) years and 54.1% of the sample was female. In the total sample, the mean (SD) intraocular pressure (IOP) and vertical cup-to-disc ratio (VCDR) was 14.55 (2.42) mmHg and 0.31 (0.15), respectively. The 97.5th and 99.5th percentile for IOP and VCDR was 20 mmHg and 22 mmHg, and 0.7 and 0.8, respectively. The overall prevalence of glaucoma in the population was 2.30% (n = 47). Of these 47 individuals, 37 (78.7%) had primary open angle glaucoma, 6 (12.8%) had primary angle closure glaucoma, and 4 (8.5%) had secondary glaucoma. There was a significant (p = 5.86×10-6) increase in the prevalence of glaucoma with increasing age overall and across glaucoma subtypes. Six individuals with glaucoma (12.8%) were blind in at least one eye. Of the individuals with glaucoma, 93.6% were previously undiagnosed. In individuals aged 40 years or older (n = 1057, 51.4% female), the mean (SD) IOP and VCDR was 14.39 (2.63) mmHg and 0.34 (0.16), respectively, and glaucoma prevalence was 4.16% (n = 44). The prevalence of glaucoma and undiagnosed disease is high in the Jirel population of Nepal. This study will inform strategies to minimize glaucoma-associated burden in Nepal.
RESUMO
Measurements of fasting glucose (FG) or glycated hemoglobin A1c (HbA1c) are two clinically approved approaches commonly used to determine glycemia, both of which are influenced by genetic factors. Obtaining accurate measurements of FG or HbA1c is not without its challenges, though. Measuring glycated serum protein (GSP) offers an alternative approach for assessing glycemia. The aim of this study was to estimate the heritability of GSP and GSP expressed as a percentage of total serum albumin (%GA) using a variance component approach and localize genomic regions (QTLs) that harbor genes likely to influence GSP and %GA trait variation in a large extended multigenerational pedigree from Jiri, Nepal (n = 1,800). We also performed quantitative bivariate analyses to assess the relationship between GSP or %GA and several cardiometabolic traits. Additive genetic effects significantly influence variation in GSP and %GA levels (p values: 1.15 × 10-5 and 3.39 × 10-5, respectively). We localized a significant (LOD score = 3.18) and novel GSP QTL on chromosome 11q, which has been previously linked to type 2 diabetes. Two common (MAF > 0.4) SNPs within the chromosome 11 QTL were associated with GSP (adjusted pvalue < 5.87 × 10-5): an intronic variant (rs10790184) in the DSCAML1 gene and a 3'UTR variant (rs8258) in the CEP164 gene. Significant positive correlations were observed between GSP or %GA and blood pressure, and lipid traits (p values: 0.0062 to 1.78 × 10-9). A significant negative correlation was observed between %GA and HDL cholesterol (p = 1.12 × 10-5). GSP is influenced by genetic factors and can be used to assess glycemia and diabetes risk. Thus, GSP measurements can facilitate glycemic studies when accurate FG and/or HbA1c measurements are difficult to obtain. GSP can also be measured from frozen blood (serum) samples, which allows the prospect of retrospective glycemic studies using archived samples.
Assuntos
Glicemia/análise , Proteínas Sanguíneas/genética , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Diabetes Mellitus/sangue , Diabetes Mellitus/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , HDL-Colesterol/sangue , Saúde da Família , Feminino , Predisposição Genética para Doença , Genótipo , Hemoglobinas Glicadas/genética , Glicosilação , Humanos , Hiperglicemia , Hipoglicemia/sangue , Lipídeos/sangue , Lipídeos/química , Escore Lod , Masculino , Pessoa de Meia-Idade , Nepal , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Estudos Retrospectivos , Fatores de Risco , Albumina Sérica/análise , Adulto JovemRESUMO
We describe 35 microsatellite markers from the human parasitic nematode Ascaris lumbricoides. We found 7 sex-linked markers and demonstrate that 26 autosomal loci can be scored reliably. These markers have high genetic variability and provide the tools to address multiple questions concerning the epidemiology, fine-scale genetic structure, host specificity, and mating systems of this parasite.
Assuntos
Ascaríase/parasitologia , Ascaris lumbricoides/genética , Repetições de Microssatélites , Alelos , Animais , Ascaríase/diagnóstico , Ascaris lumbricoides/classificação , Ascaris lumbricoides/fisiologia , Feminino , Ligação Genética/genética , Variação Genética , Genótipo , Heterozigoto , Interações Hospedeiro-Parasita/genética , Humanos , Desequilíbrio de Ligação , Masculino , Nepal , Fatores SexuaisRESUMO
OBJECTIVE: This research explores the lay explanations and self-management of diabetes among residents in greater Kathmandu, Nepal. METHODS: Interviews were done with 300 respondents drawn from diabetes patient listings and members of a national diabetes club. Sociodemographic and health-related data were collected with two standardized instruments: the Illness Perception Questionnaire and the Summary of Diabetes Self-Care Activities. Hierarchical ordinary least squares regression analyses were employed to examine predictors of self-management of diabetes. RESULTS: Across seven equations, R(2) values ranged from .020 to .221, and with the exception of one domain of self-management (blood sugar testing), one or more lay explanatory factors entered each equation. DISCUSSION: Respondents from this sample appear to hold lay explanations of diabetes that are similar to those of their peers in developed nations. Findings are discussed, including the caveat that these mostly male, relatively educated, and urban-residing adults with diabetes are not necessarily representative of Nepali society.
Assuntos
Diabetes Mellitus , Autocuidado , Adulto , Idoso , Demografia , Diabetes Mellitus/etiologia , Diabetes Mellitus/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nepal/epidemiologia , Inquéritos e QuestionáriosRESUMO
Sociologists have had only a marginal effect on the development of bioethical principles for medical research despite their interest in the effects of social and economic inequality on health and its implications for issues of social and individual justice. In this article we review existing bioethical standards for conducting medical research in very poor countries. Given the substantial differences in individual exposure to health risks and the availability of health protective resources as well as differences in the disease burden and mortality and morbidity at the population level, it is clear that illness in poor countries can be better understood using a social causation of illness perspective. In turn we suggest that such a perspective can be useful for identifying bioethical standards that better apply in this context.
Assuntos
Bioética , Pesquisa Biomédica/ética , Países em Desenvolvimento/economia , Pobreza , Justiça Social/ética , Humanos , Nepal , Justiça Social/economia , Fatores Socioeconômicos , Sociologia Médica , OcidenteRESUMO
OBJECTIVE: This article attempts to document the prevalence of psychiatric disorders among elders in a rural village in Nepal. In addition, we investigate the relationship between psychiatric illness and functional disability to assess the impact of disorder on social functioning. METHOD: A semistructured interview checklist to diagnose six disorders was used (N = 182). In addition, elders older than age 60 were examined to assess the functional impact of mental health conditions by measuring functional disability. RESULTS: Eighteen percent of elders seem to have a diagnosable psychiatric disorder. Furthermore, in general these elders were also less likely to receive assistance with the disabilities they report, compared with those who do not experience a psychiatric disorder. DISCUSSION: Documenting the extent of psychiatric disorder among elders in developing societies sensitizes health planners to the growing reality of aging in their societies and the need for expanded physical and psychiatric health care services.
Assuntos
Transtornos Mentais/epidemiologia , Atividades Cotidianas , Idoso , Envelhecimento/psicologia , Demografia , Países em Desenvolvimento , Pessoas com Deficiência/estatística & dados numéricos , Necessidades e Demandas de Serviços de Saúde , Inquéritos Epidemiológicos , Humanos , Transtornos Mentais/diagnóstico , Pessoa de Meia-Idade , Nepal/epidemiologia , Prevalência , Saúde da População RuralRESUMO
BACKGROUND: There is growing recognition of the importance of mental health problems in developing countries. In large part, however, we have very limited epidemiological data at national and/or community levels about the prevalence of mental illnesses. AIMS: The purpose of this paper is to describe the reliability and validity characteristics of an assessment tool that may be useful for conducting community-level surveys (particularly in rural communities of developing countries) to obtain prevalence rates of mental illnesses. METHODS: We used a sample of adults residing in a rural village in Nepal to assess disorders with a modified version of the DSM-III-R Checklist. We evaluated construct validity, scale reliability, convergent validity and discriminant validity. RESULTS: There is strong evidence for the construct validity of generalized anxiety and depression in our sample. By contrast, the symptoms associated with mania and schizophrenia were not empirically distinct. Convergent validity is acceptable. As a test of validity characteristics, the pattern of sociodemographic correlations suggests that the specific social origins of disorder in Nepal will require further investigation. CONCLUSION: The first step in obtaining high quality information on the distribution of mental illness in developing countries is to establish some reliable and valid indicators of disorder. The checklist format for assessing disorder appears to meet this objective and offers the possibility that community-level prevalence studies can be reasonably conducted.
Assuntos
Países em Desenvolvimento , Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtornos Mentais/diagnóstico , Transtornos Mentais/epidemiologia , Saúde da População Rural/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Programática de Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nepal/epidemiologia , Prevalência , Reprodutibilidade dos Testes , Características de Residência , Inquéritos e QuestionáriosRESUMO
Host genetic factors exert significant influences on differential susceptibility to many infectious diseases. In addition, population structure of both host and parasite may influence disease distribution patterns. In this study, we assess the effects of population structure on infectious disease in two populations in which host genetic factors influencing susceptibility to parasitic disease have been extensively studied. The first population is the Jirel population of eastern Nepal that has been the subject of research on the determinants of differential susceptibility to soil-transmitted helminth infections. The second group is a Brazilian population residing in an area endemic for Trypanosoma cruzi infection that has been assessed for genetic influences on differential disease progression in Chagas disease. For measures of Ascaris worm burden, within-population host genetic effects are generally more important than host population structure factors in determining patterns of infectious disease. No significant influences of population structure on measures associated with progression of cardiac disease in individuals who were seropositive for T. cruzi infection were found.
Assuntos
Doença de Chagas/genética , Etnicidade/genética , Predisposição Genética para Doença/genética , Genética Populacional , Helmintíase/genética , Interações Hospedeiro-Parasita/genética , Animais , Ascaris/genética , Brasil/epidemiologia , Doença de Chagas/epidemiologia , Helmintíase/epidemiologia , Humanos , Nepal/epidemiologia , Trypanosoma cruzi/genéticaRESUMO
Macroparasite infections (e.g., helminths) remain a major human health concern. However, assessing transmission dynamics is problematic because the direct observation of macroparasite dispersal among hosts is not possible. We used a novel landscape genetics approach to examine transmission of the human roundworm Ascaris lumbricoides in a small human population in Jiri, Nepal. Unexpectedly, we found significant genetic structuring of parasites, indicating the presence of multiple transmission foci within a small sampling area ( approximately 14 km(2)). We analyzed several epidemiological variables, and found that transmission is spatially autocorrelated around households and that transmission foci are stable over time despite extensive human movement. These results would not have been obtainable via a traditional epidemiological study based on worm counts alone. Our data refute the assumption that a single host population corresponds to a single parasite transmission unit, an assumption implicit in many classic models of macroparasite transmission. Newer models have shown that the metapopulation-like pattern observed in our data can adversely affect targeted control strategies aimed at community-wide impacts. Furthermore, the observed metapopulation structure and local mating patterns generate an excess of homozygotes that can accelerate the spread of recessive traits such as drug resistance. Our study illustrates how molecular analyses complement traditional epidemiological information in providing a better understanding of parasite transmission. Similar landscape genetic approaches in other macroparasite systems will be warranted if an accurate depiction of the transmission process is to be used to inform effective control strategies.
Assuntos
Ascaríase/parasitologia , Ascaríase/transmissão , Ascaris lumbricoides/classificação , Ascaris lumbricoides/genética , DNA de Helmintos/genética , Adolescente , Adulto , Idoso , Animais , Ascaris lumbricoides/isolamento & purificação , Criança , Pré-Escolar , Análise por Conglomerados , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Nepal , Adulto JovemRESUMO
A linkage-based genome scan of 1,258 members of a single pedigree of the Jirel population of Nepal localized 6 potential quantitative trait loci (QTLs) influencing susceptibility to infection with Ascaris lumbricoides, the most common soil-transmitted intestinal helminth. Three QTLs exhibited genomewide significance, including QTLs on chromosomes 13 (logarithm of the odds ratio [LOD] score, 3.37; genomewide P = .013, 8 (LOD score, 3.03; genomewide P = .031), and 11 (LOD score, 3.19; genomewide P = .020). Another QTL on chromosome 1 approached significance (LOD score, 2.72; genomewide P = .067). There was suggestive evidence of linkage for 2 additional loci on chromosomes 1 and 13.
Assuntos
Ascaríase/genética , Ascaris lumbricoides/patogenicidade , Predisposição Genética para Doença/genética , Interações Hospedeiro-Parasita/genética , Locos de Características Quantitativas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Ascaríase/etnologia , Criança , Pré-Escolar , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 13/genética , Feminino , Ligação Genética , Genótipo , Interações Hospedeiro-Parasita/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Nepal , Característica Quantitativa HerdávelRESUMO
BACKGROUND: Whipworm (Trichuris trichiura) infection is a soil-transmitted helminth infection that affects >1 billion people. It is a serious public health problem in many developing countries and can result in deficits in growth and cognitive development. In a follow-up study of significant heritability for whipworm infection, we conducted the first genome scan for quantitative trait loci (QTL) influencing the heritability of susceptibility to this important parasitic disease. METHODS: Whipworm egg counts were determined for 1,253 members of the Jirel population of eastern Nepal. All individuals in the study sample belonged to a single pedigree including >26,000 pairs of relatives that are informative for genetic analysis. RESULTS: Linkage analysis of genome scan data generated for the pedigree provided unambiguous evidence for 2 QTL influencing susceptibility to whipworm infection, one located on chromosome 9 (logarithm of the odds ratio [LOD] score, 3.35; genomewide P = .0138) and the other located on chromosome 18 (LOD score, 3.29; genomewide P = .0159). There was also suggestive evidence that 2 loci located on chromosomes 12 and 13 influenced whipworm infection. CONCLUSION: The results of this first genome scan for T. trichiura egg counts provides new information on the determinants of genetic predisposition to whipworm infection.
Assuntos
Gastroenteropatias/genética , Gastroenteropatias/parasitologia , Locos de Características Quantitativas , Tricuríase/genética , Trichuris/crescimento & desenvolvimento , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , Pré-Escolar , Mapeamento Cromossômico , Fezes/parasitologia , Feminino , Gastroenteropatias/epidemiologia , Predisposição Genética para Doença , Genoma Humano , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Nepal/epidemiologia , Contagem de Ovos de Parasitas , Prevalência , Tricuríase/epidemiologia , Tricuríase/parasitologiaRESUMO
Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3-20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 +/- SE = 0.87 +/- 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample.