Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data

Authors

Joyce Y. Tung, 23andMe
Chuong B. Do, 23andMe
David A. Hinds, 23andMe
Amy K. Kiefer, 23andMe
J. Michael Macpherson, Chapman UniversityFollow
Arnab B. Chowdry, 23andMe
Uta Francke, 23andMe
Brian Naughton, 23andMe
Joanna Mountain, 23andMe
Anne Wojcicki, 23andMe
Nicholas Eriksson, 23andMe

Document Type

Article

Publication Date

2011

Abstract

While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.

Comments

This article was originally published in PLoS One, volume 6, issue 8, in 2011. DOI: 10.1371/journal.pone.0023473

Recommended Citation

Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, et al. (2011) Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data. PLoS ONE 6(8): e23473. doi:10.1371/journal.pone.0023473

Copyright

The authors

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 License.