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PMID: 20585627 Published · epublish English Journal Article Research Support, Non-U.S. Gov't

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

PLoS genetics ·Vol. 6 ·No. 6 ·2010-06-24 ·Pages e1000993

Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J

Abstract

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.

MeSH Terms
Chromosomes, Human Genetic Variation Genome-Wide Association Study/methods Genomics Genotype Hair Humans Internet Models, Genetic Phenotype
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Eriksson Nicholas
23andMe, Mountain View, California, United States of America. [email protected]
Macpherson J Michael
Tung Joyce Y
Hon Lawrence S
Naughton Brian
Saxonov Serge
Avey Linda
Wojcicki Anne
Pe'er Itsik
Mountain Joanna
Conflict of Interest

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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Article Info
Journal
PLoS genetics
Abbr.
PLoS Genet
ISSN
1553-7404
DOI
10.1371/journal.pgen.1000993
Email
[email protected]
Published
2010-06-24
Epub
2010-00-24
Pages
e1000993
Language
English
Region
United States
NLM ID
101239074
PMCID
PMC2891811
Subset
IM
Corrections
CommentIn
PMID: 20585615
External Links
PubMed source DOI: 10.1371/journal.pgen.1000993 PMC Full Text View journal details
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