efficient replication of over 180 genetic associations with self-reported medical data有效的180多个基因复制对自我医疗数据.pdfVIP

Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data 1 1 1 1 1 Joyce Y. Tung *, Chuong B. Do , David A. Hinds , Amy K. Kiefer , J. Michael Macpherson , Arnab B. 1 1,2 1 1 1 1 Chowdry , Uta Francke , Brian T. Naughton , Joanna L. Mountain , Anne Wojcicki , Nicholas Eriksson 1 23andMe, Inc., Mountain View, California, United States of America, 2 Department of Genetics, Stanford University, Stanford, California, United States of America 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 expe