On family-based genome-wide association studies with large pedigrees: Observations and recommendations

David W. Fardo, Xue Zhang, Lili Ding, Hua He, Brad Kurowski, Eileen S. Alexander, Tesfaye B. Mersha, Valentina Pilipenko, Leah Kottyan, Kannabiran Nandakumar, Lisa Martin

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Family based association studies are employed less often than case-control designs in the search for disease-predisposing genes. The optimal statistical genetic approach for complex pedigrees is unclear when evaluating both common and rare variants. We examined the empirical power and type I error rates of 2 common approaches, the measured genotype approach and family-based association testing, through simulations from a set of multigenerational pedigrees. Overall, these results suggest that much larger sample sizes will be required for family-based studies and that power was better using MGA compared to FBAT. Taking into account computational time and potential bias, a 2-step strategy is recommended with FBAT followed by MGA.

Original languageEnglish
Article numberS26
JournalBMC Proceedings
Volume8
DOIs
StatePublished - Jun 17 2014

Bibliographical note

Publisher Copyright:
© 2014 Fardo et al.; licensee BioMed Central Ltd.

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

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