Designs that involve families (the traditional strength of genetic epidemiology) and population-based sampling (the traditional strength of environmental epidemiology) allow investigation of both genes and environment, separately or together, and allow valid inference to the population. These case-control-family designs (including those involving twin pairs), can be regarded as retrospective cohort studies of relatives, and can be used for: determining familial risks and genetic models; estimating risk (penetrance) for measured genotypes; genetic association studies; stratifying risks by family history and known mutation status; and studying modifiers of risk in genetically susceptible individuals. Follow-up of families allows genetic and environmental risks to be studied prospectively. We discuss statistical methods, theoretical and practical strengths, limitations, and other issues. Given their versatility, population-based family studies could become a principal framework in epidemiology, and move genetics from its traditional focus on high-risk families to give it a wider clinical and population health relevance.
%0 Journal Article
%1 Hopper2005
%A Hopper, John L
%A Bishop, D Timothy
%A Easton, Douglas F
%D 2005
%J Lancet
%K Case-ControlStudies DiseasesinTwins DiseasesinTwins:genetics Family GeneticPredispositiontoDisease GeneticPredispositiontoDisease:genetics Genetics Humans Penetrance Population ResearchDesign
%N 9494
%P 1397-406
%R 10.1016/S0140-6736(05)67570-8
%T Population-based family studies in genetic epidemiology.
%U http://www.ncbi.nlm.nih.gov/pubmed/16226618
%V 366
%X Designs that involve families (the traditional strength of genetic epidemiology) and population-based sampling (the traditional strength of environmental epidemiology) allow investigation of both genes and environment, separately or together, and allow valid inference to the population. These case-control-family designs (including those involving twin pairs), can be regarded as retrospective cohort studies of relatives, and can be used for: determining familial risks and genetic models; estimating risk (penetrance) for measured genotypes; genetic association studies; stratifying risks by family history and known mutation status; and studying modifiers of risk in genetically susceptible individuals. Follow-up of families allows genetic and environmental risks to be studied prospectively. We discuss statistical methods, theoretical and practical strengths, limitations, and other issues. Given their versatility, population-based family studies could become a principal framework in epidemiology, and move genetics from its traditional focus on high-risk families to give it a wider clinical and population health relevance.
@article{Hopper2005,
abstract = {Designs that involve families (the traditional strength of genetic epidemiology) and population-based sampling (the traditional strength of environmental epidemiology) allow investigation of both genes and environment, separately or together, and allow valid inference to the population. These case-control-family designs (including those involving twin pairs), can be regarded as retrospective cohort studies of relatives, and can be used for: determining familial risks and genetic models; estimating risk (penetrance) for measured genotypes; genetic association studies; stratifying risks by family history and known mutation status; and studying modifiers of risk in genetically susceptible individuals. Follow-up of families allows genetic and environmental risks to be studied prospectively. We discuss statistical methods, theoretical and practical strengths, limitations, and other issues. Given their versatility, population-based family studies could become a principal framework in epidemiology, and move genetics from its traditional focus on high-risk families to give it a wider clinical and population health relevance.},
added-at = {2023-02-03T11:44:35.000+0100},
author = {Hopper, John L and Bishop, D Timothy and Easton, Douglas F},
biburl = {https://www.bibsonomy.org/bibtex/2ff102e254c0dd4eb0dec63d5ac93bb72/jepcastel},
doi = {10.1016/S0140-6736(05)67570-8},
interhash = {7e57535d587244e1c325628551fb0e84},
intrahash = {ff102e254c0dd4eb0dec63d5ac93bb72},
issn = {1474-547X},
journal = {Lancet},
keywords = {Case-ControlStudies DiseasesinTwins DiseasesinTwins:genetics Family GeneticPredispositiontoDisease GeneticPredispositiontoDisease:genetics Genetics Humans Penetrance Population ResearchDesign},
note = {3972<m:linebreak></m:linebreak>Epidemiologia genètica},
number = 9494,
pages = {1397-406},
pmid = {16226618},
timestamp = {2023-02-03T11:44:35.000+0100},
title = {Population-based family studies in genetic epidemiology.},
url = {http://www.ncbi.nlm.nih.gov/pubmed/16226618},
volume = 366,
year = 2005
}