Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

By Nicholas Eriksson, J. Macpherson, J. Tung, Lawrence S. Hon, Brian T. Naughton, Serge Saxonov, L. Avey, A. Wojcicki, Itsik Pe'er, Joanna L. Mountain and 2 more. PLoS Genetics, 2010

464 citations recorded by the source corpus.

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.

Subfields: Genetics, Nutrition and Dietetics

View Paper: https://www.semanticscholar.org/paper/81b7a8aeca9709c2d307c08ac8c9950716e680d1

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In Genetics

1. James J. Lee
2. Nicholas Eriksson
3. David A. Hinds
4. Joanna L. Mountain
5. J. Tung

Citations in the corpus

• Nucleic acid detection with CRISPR-Cas13a/C2c2 (2017, unknown): “SHERLOCK can discriminate SNPs for human genotyping and cell free–allele DNA detection.”
• An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017, unknown): “, 2007), and rs1800404 was later significantly associated with this phenotype (Eriksson et al., 2010); zKhomani and Nama individuals notably have heterogeneous eye color, with a range of brown, hazel, and green eyes.”
• A genetic variant near olfactory receptor genes influences cilantro preference (2012, methodology): “IBD was calculated using the methods described in [29]; the principal component analysis was performed as in [15].”
• Correlation and Causation in the Study of Personality (2012, background): “‘Personal genomics’ studies, drawing upon large and haphazardly ascertained all-volunteer samples, have reported associations of genetic variants with hair morphology, freckling, asparagus anosmia, photic sneeze reflex, and Parkinson’s disease (Do et al., 2011; Eriksson et al., 2010).”
• The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States (2015, unknown): “This data set has been described in detail previously.(34,35) Participants provided informed consent and participated in the research online, under a protocol approved by the external AAHRFP-accredited IRB, Ethical & Independent Review Services (E&I Review).”