Web-based, participant-driven studies yield novel genetic associations for common traits.
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 nov...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2010-06-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000993&type=printable |
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| author | Nicholas Eriksson J Michael Macpherson Joyce Y Tung Lawrence S Hon Brian Naughton Serge Saxonov Linda Avey Anne Wojcicki Itsik Pe'er Joanna Mountain |
| author_facet | Nicholas Eriksson J Michael Macpherson Joyce Y Tung Lawrence S Hon Brian Naughton Serge Saxonov Linda Avey Anne Wojcicki Itsik Pe'er Joanna Mountain |
| author_sort | Nicholas Eriksson |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f461022ba72b41c1bbbc18f647505126 |
| institution | Kabale University |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2010-06-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-f461022ba72b41c1bbbc18f6475051262025-01-17T05:31:14ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042010-06-0166e100099310.1371/journal.pgen.1000993Web-based, participant-driven studies yield novel genetic associations for common traits.Nicholas ErikssonJ Michael MacphersonJoyce Y TungLawrence S HonBrian NaughtonSerge SaxonovLinda AveyAnne WojcickiItsik Pe'erJoanna MountainDespite 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000993&type=printable |
| spellingShingle | Nicholas Eriksson J Michael Macpherson Joyce Y Tung Lawrence S Hon Brian Naughton Serge Saxonov Linda Avey Anne Wojcicki Itsik Pe'er Joanna Mountain Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genetics |
| title | Web-based, participant-driven studies yield novel genetic associations for common traits. |
| title_full | Web-based, participant-driven studies yield novel genetic associations for common traits. |
| title_fullStr | Web-based, participant-driven studies yield novel genetic associations for common traits. |
| title_full_unstemmed | Web-based, participant-driven studies yield novel genetic associations for common traits. |
| title_short | Web-based, participant-driven studies yield novel genetic associations for common traits. |
| title_sort | web based participant driven studies yield novel genetic associations for common traits |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000993&type=printable |
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