Assessing disease risk in genome-wide association studies using family history.

Epidemiology
Arpita GhoshSholom Wacholder

Abstract

We show how to use reports of cancer in family members to discover additional genetic associations or confirm previous findings in genome-wide association (GWA) studies conducted in case-control, cohort, or cross-sectional studies. Our novel family history-based approach allows economical association studies for multiple cancers, without genotyping of relatives (as required in family studies), follow-up of participants (as required in cohort studies), or oversampling of specific cancer cases (as required in case-control studies). We empirically evaluate the performance of the proposed family history-based approach in studying associations with prostate and ovarian cancers, using data from GWA studies previously conducted within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. The family history-based method may be particularly useful for investigating genetic susceptibility to rare diseases for which accruing cases may be very difficult, by using disease information from nongenotyped relatives of participants in multiple case-control and cohort studies designed primarily for other purposes.

References

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Citations

Jan 12, 2013·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Shuji OginoEdward Giovannucci
Nov 24, 2012·Journal of the National Cancer Institute·Shuji OginoCharles S Fuchs
Jan 11, 2014·Genetic Epidemiology·Arpita GhoshNilanjan Chatterjee
Apr 8, 2016·Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association·Rieko OkadaUNKNOWN Japan Multi-institutional Collaborative Cohort Study Group
Dec 19, 2012·Asian Pacific Journal of Cancer Prevention : APJCP·Alexey S ZhivotovskiyElena B Brusina
Dec 30, 2014·Human Genetics·Marilyn C CornelisAlkes L Price

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