Genetic Epidemiology

King, Mary Claire; Lee, Geraldine M.; Spinner, Nancy B.; Thomson, Glenys; Wrensch, Margaret

doi:10.1146/annurev.pu.05.050184.000245

Cited by 75 publications

(36 citation statements)

References 79 publications

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“…Relationships between environmental and genetic influences on disease susceptibility have been discussed previously [Haldane, 1946;MacMahon, 1968;Kidd and Matthysee, 1978;Khoury et al, 1987;King et al, 1984;Ottman et al, 1990], but little attention has been paid to epidemiologic research designs for testing them. Khoury et al [1987Khoury et al [ , 1988 discussed such models in terms of the effect on the relative risk associated with environmental factors when genetic susceptibility is not considered, and the effect on the relative risk associated with genetic susceptibility when environmental risk factors are not considered.…”

Section: Discussionmentioning

confidence: 99%

An epidemiologic approach to gene‐environment interaction

Ottman

1990

Genetic Epidemiology

180

106

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This paper illustrates how epidemiologic principles can be used to investigate relationships between genetic susceptibility and other risk factors for disease. Five plausible models are described for relationships between genetic and environmental effects, and an example of a simple mendelian disorder that fits each model is given. Each model leads to a different set of predictions about disease risk in individuals with the genetic susceptibility alone, the risk factor alone, both, or neither. The risk predictions for the different models are described, and research designs for testing them are discussed.

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Section: Discussionmentioning

confidence: 99%

An epidemiologic approach to gene‐environment interaction

Ottman

1990

Genetic Epidemiology

180

106

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“…Clustering of breast cancer in high-risk families is consistent with shared environmental effects, culturally transmitted risk factors, polygenic effects, the influence of individual major genes, or a combination of these (19). The present genetic analysis of 1579 families was undertaken to test whether individual genes with high penetrance influence breast cancer risk and, if so, the nature and extent of that influence.…”

mentioning

confidence: 98%

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

Newman

Austin

Liu

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

436

193

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Segregation analysis of breast cancer in families can provide the logical basis and the specific genetic models for mapping and identifying genes responsible for human breast cancer. Patterns of breast cancer occurrence in families were investigated by complex segregation analysis. In a sample of 1579 nuclear families ascertained through a populationbased series of probands, an autosomal dominant model with a highly penetrant susceptibility allele fully explained disease clustering. From the maximum-likelihood Mendelian model, the frequency ofthe susceptibility allele was 0.0006 in the general population, and lifetime risk of breast cancer was 0.82 among susceptible women and 0.08 among women without the susceptibility allele. Inherited susceptibility affected only 4% of families in the sample: multiple cases of this relatively common disease occurred in other families by chance. The same genetic models, with higher gene frequency, explained disease clustering in an extended kindred at high risk of breast cancer. Evidence for a highly penetrant, autosomal dominant susceptibility allele for breast cancer in a high-risk family and the general population suggests that high-risk families can serve as models for understanding breast cancer in the population as a whole.

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“…As the genetic contribution to hypertension is usually polygenic, detailed genetic studies would be needed to determine the possibility that one or more specific genes are involved in all or some of these communities. 28,29 These genes might have been selected to provide protection against common fatal childhood diseases such as malaria or pneumonia. The independent associations of hypertension with an increased risk of a deceased parent 30 and the borderline significant association with a family history of hypertension point to genetic factors in the aetiology of hypertension in this population.…”

Section: Discussionmentioning

confidence: 99%

Geographical variation in prevalence of hypertension within The Gambia

et al. 2001

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Hypertension has become an important public health problem for sub-Sahara Africa. In a previous nationwide study, we observed a high degree of geographical variation in the prevalence of diastolic hypertension. Geographical variation provides essential background information for the development of community randomised trials could suggest aetiological mechanisms, inform control strategies and prompt further research questions. We designed a follow-up study from the nine high-prevalence communities, and from 18 communities where hypertension was found least prevalent (controls). In each community, 50 households were

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Genetic Epidemiology

Cited by 75 publications

References 79 publications

An epidemiologic approach to gene‐environment interaction

An epidemiologic approach to gene‐environment interaction

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

Geographical variation in prevalence of hypertension within The Gambia

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