American Journal of Epidemiology · 2008 · 89 citations · 61 references
Life SciencesGeneticsPublic Health PracticeEpidemiologyGenetic EpidemiologyHuman GeneticsGenetic RiskGenotype-phenotype Association AnalysisPopulation Genetics In MedicineAllele FrequencyDisease AssociationsDisease Susceptibility AllelesDisease Susceptibility AnalysisGenotype-phenotype AssociationsHeritable Disease SusceptibilityPopulation Attributable Risk EstimationPopulation Attributable Risk Percentage
Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes. Population-based prevalence estimates also provide the basis for epidemiologic studies of gene-disease associations, for estimating population attributable risk, and for informing health policy and clinical and public health practice. However, such prevalence estimates for genotypes important to public health remain undetermined for the major racial and ethnic groups in the US population. DNA was collected from 7,159 participants aged 12 years or older in Phase 2 (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III). Certain age and minority groups were oversampled in this weighted, population-based US survey. Estimates of allele frequency and genotype prevalence for 90 variants in 50 genes chosen for their potential public health significance were calculated by age, sex, and race/ethnicity among non-Hispanic whites, non-Hispanic blacks, and Mexican Americans. These nationally representative data on allele frequency and genotype prevalence provide a valuable resource for future epidemiologic studies in public health in the United States.
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Initial sequencing and analysis of the human genome
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The Sequence of the Human Genome
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A haplotype map of the human genome