TY - JOUR
T1 - Assessing disease risk in genome-wide association studies using family history
AU - Ghosh, Arpita
AU - Hartge, Patricia
AU - Purdue, Mark P.
AU - Chanock, Stephen J.
AU - Amundadottir, Laufey
AU - Wang, Zhaoming
AU - Wentzensen, Nicolas
AU - Chatterjee, Nilanjan
AU - Wacholder, Sholom
PY - 2012/7
Y1 - 2012/7
N2 - 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.
AB - 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.
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U2 - 10.1097/EDE.0b013e31825583a0
DO - 10.1097/EDE.0b013e31825583a0
M3 - Article
C2 - 22575968
AN - SCOPUS:84862126651
SN - 1044-3983
VL - 23
SP - 616
EP - 622
JO - Epidemiology
JF - Epidemiology
IS - 4
ER -