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PLoS Genet. 2010 Jun 24;6(6):e1000993. doi: 10.1371/journal.pgen.1000993.

Web-based, participant-driven studies yield novel genetic associations for common traits.

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23andMe, Mountain View, California, United States of America.


Despite the recent rapid growth in genome-wide data, much of human variation remains entirely unexplained. A significant challenge in the pursuit of the genetic basis for variation in common human traits is the efficient, coordinated collection of genotype and phenotype data. We have developed a novel research framework that facilitates the parallel study of a wide assortment of traits within a single cohort. The approach takes advantage of the interactivity of the Web both to gather data and to present genetic information to research participants, while taking care to correct for the population structure inherent to this study design. Here we report initial results from a participant-driven study of 22 traits. Replications of associations (in the genes OCA2, HERC2, SLC45A2, SLC24A4, IRF4, TYR, TYRP1, ASIP, and MC1R) for hair color, eye color, and freckling validate the Web-based, self-reporting paradigm. The identification of novel associations for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A; and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability to smell the methanethiol produced after eating asparagus (rs4481887, near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and rs11856995, near NR2F2) illustrates the power of the approach.

[Indexed for MEDLINE]
Free PMC Article

Conflict of interest statement

NE, JMM, JYT, LSH, BN, SS, LA, AW, and JM are or have been employed by 23andMe and own stock options in the company. 23andMe co-president AW has provided general guidance, including guidance related to the company's research undertakings and direction. PLoS Genetics' Editor-in-Chief Gregory S. Barsh is a potential consultant to 23andMe and therefore recused himself from the editorial and peer-review process. PLoS co-founder Michael B. Eisen is a member of the 23andMe Scientific Advisory Board.

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