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PURPOSE. To determine whether there is an association between polymorphisms of the AKR1B1 gene and cortical cataract in the presence of hyperglycemia.
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Genetic epidemiology is a young but rapidly developing discipline. Although its early years were largely dedicated to family-based research in monogenic disorders, now genetic-epidemiologic research increasingly focuses on complex...
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Genetic epidemiology is a young but rapidly developing discipline. Although its early years were largely dedicated to family-based research in monogenic disorders, now genetic-epidemiologic research increasingly focuses on complex, multifactorial disorders. Along with the development of the human-genome map and advances in molecular technology grows the importance of genetic-epidemiologic applications. Large-scale population-based studies, requiring close integration of genetic and epidemiologic research, determine future research in the field. In this paper, we review the basic principles underlying genetic-epidemiologic research, such as molecular genetics and familial aggregation of disease, as well as the typical study approaches of genome screening and candidate-gene studies.
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OBJECTIVE: To present an overview of the status of genetics of mental disorders and to describe the role of genetic epidemiology in the future of the implementation of the human genome initiative. METHOD: Reviews evidence on famil...
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OBJECTIVE: To present an overview of the status of genetics of mental disorders and to describe the role of genetic epidemiology in the future of the implementation of the human genome initiative. METHOD: Reviews evidence on familial recurrence risk for major mental disorders and approaches to identify genes for complex disorders. RESULTS: The next decade will witness shifts in approaches of both epidemiology and genetics to address sources of complexity of the mental disorders. Descriptive genetic epidemiology will evolve into analytic genetic epidemiology by shifting the key questions from estimation of the magnitude of mental disorders to identification of risk and protective environmental factors that may be informative for both etiology and prevention. Genetics research will expand to population-based studies for complex disorders and will employ designs and methods that incorporate sources of complexity. CONCLUSION: In summary, the next era of human genetics will witness major shifts in approaches to identify the genes underlying mental disorders. The contributions of genetic epidemiology to translate advances in molecular genetics to public health are discussed.
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Studies in molecular and genetic epidemiology require a high-throughput, low cost, and reliable means of genomic DNA collection. Buccal (cheek) swabs have been proposed a s a means of achieving these goals, but there is little inf...
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Studies in molecular and genetic epidemiology require a high-throughput, low cost, and reliable means of genomic DNA collection. Buccal (cheek) swabs have been proposed a s a means of achieving these goals, but there is little information about the practical application of this approach. Form January 1995 to December 1997, we processed 995 buccal swabs for use in polymerase chain reaction (PCR)-based genotype assays in the context of ongoing molecular epi- demiologic studies.
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This paper addresses the use of genetic biomarkers in occupational epidemiology and some of the scientific, eShical, and social implications for epidemiologists and practitioners to consider, including issues involving individual ...
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This paper addresses the use of genetic biomarkers in occupational epidemiology and some of the scientific, eShical, and social implications for epidemiologists and practitioners to consider, including issues involving individual risk estimation, the communication of epidemiologic results, and the translation of epidemiologic data into clinical or occupational health practice. Three scenarios from the occupational setting illustrate some of these issues and implications. The scenarios involve glutathione-S-transferase theta 1 (GSTT1) and hematopoiet-ic cancer in hospital workers, human leukocyte antigen coding for glutamic acid in the 69th position (HLA DPB1~(E69)) and chronic beryllium disease in beryllium workers, and peripheral myelin protein 22 (PMP22) deletion and carpal tunnel syndrome in railroad track workers. Epidemiologic research involving genetic biomarkers requires the application of genetic tests and can be considered on a continuum between basic sciences and clinical and occupational and public health practice for which questions of test relevance, validity, and utility become important.
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Epidemiology is the branch of science that investigates the causes and distribution of disease in populations in order to provide preventative measures and promote human health. The fields of genetic and environmental epidemiology...
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Epidemiology is the branch of science that investigates the causes and distribution of disease in populations in order to provide preventative measures and promote human health. The fields of genetic and environmental epidemiology primarily seek to identify genetic and environmental risk factors for disease, respectively. Epigenetics is emerging as an important piece of molecular data to include in these studies because it can provide mechanistic insights into genetic and environmental risk factors for disease, identify potential intervention targets, provide biomarkers of exposure, illuminate gene-environment interactions and help localize disease-relevant genomic regions. Here, we describe the importance of including epigenetics in genetic and environmental epidemiology studies, provide a conceptual framework when considering epigenetic data in population-based studies and touch upon the many challenges that lie ahead.
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Worldwide, over 1 million cases of colorectal cancer (CRC) were reported in 2002, with a 50% mortality rate,
making CRC the second most common cancer in adults. Certain racial/ethnic populations continue to experience
a disproport...
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Worldwide, over 1 million cases of colorectal cancer (CRC) were reported in 2002, with a 50% mortality rate,
making CRC the second most common cancer in adults. Certain racial/ethnic populations continue to experience
a disproportionate burden of CRC. A common polymorphism in the 5,10-methylenetetrahydrofolate reductase
(MTHFR) gene has been associated with a lower risk of CRC. The authors performed both a meta-analysis (29
studies; 11,936 cases, 18,714 controls) and a pooled analysis (14 studies; 5,068 cases, 7,876 controls) of the
C677T MTHFR polymorphism and CRC, with stratification by racial/ethnic population and behavioral risk factors.
There were few studies on different racial/ethnic populations. The overall meta-analysis odds ratio for CRC for
persons with the TT genotype was 0.83 (95% confidence interval (CI): 0.77, 0.90). An inverse association was
observed in whites (odds ratio ¼ 0.83, 95% CI: 0.74, 0.94) and Asians (odds ratio ¼ 0.80, 95% CI: 0.67, 0.96) but
not in Latinos or blacks. Similar results were observed for Asians, Latinos, and blacks in the pooled analysis. The
inverse association between the MTHFR 677TT polymorphism and CRC was not significantly modified by smoking
status or body mass index; however, it was present in regular alcohol users only. The MTHFR 677TT polymor-
phism seems to be associated with a reduced risk of CRC, but this may not hold true for all populations.
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Variable-number-of-tandem-repeats (VNTR) markers are increasingly being used in population genetic studies of bacteria. They were recently developed for Pasteuria ramosa, an endobacterium that infects Daphnia species. In the prese...
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Variable-number-of-tandem-repeats (VNTR) markers are increasingly being used in population genetic studies of bacteria. They were recently developed for Pasteuria ramosa, an endobacterium that infects Daphnia species. In the present study, we genotyped P. ramosa in 18 infected hosts from the United Kingdom, Belgium, and two lakes in the United States using seven VNTR markers. Two Daphnia species were collected: D. magna and D. dentifera. Six loci showed length polymorphism, with as many as five alleles identified for a single locus. Similarity coefficient calculations showed that the extent of genetic variation between pairs of isolates within populations differed according to the population, but it was always less than the genetic distances among populations. Analysis of the genetic distances performed using principal component analysis revealed strong clustering by location of origin, but not by host Daphnia species. Our study demonstrated that the VNTR markers available for P. ramosa are informative in revealing genetic differences within and among populations and may therefore become an important tool for providing detailed analysis of population genetics and epidemiology.
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Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequen...
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Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.
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