%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 }