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- Title
Phenome-wide association study using research participants’ self-reported data provides insight into the Th17 and IL-17 pathway.
- Authors
Ehm, Margaret G.; Aponte, Jennifer L.; Chiano, Mathias N.; Yerges-Armstrong, Laura M.; Johnson, Toby; Barker, Jonathan N.; Cook, Suzanne F.; Gupta, Akanksha; Hinds, David A.; Li, Li; Nelson, Matthew R.; Simpson, Michael A.; Tian, Chao; McCarthy, Linda C.; Rajpal, Deepak K.; Waterworth, Dawn M.
- Abstract
A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381Gln in IL23R with a decrease in dandruff frequency, the variant encoding p.Asp10Asn in TRAF3IP2 with risk of male-pattern balding, and the RORC regulatory variant (rs4845604) with protection from allergies. This approach enabled rapid assessment of association with a wide variety of traits and investigation of traits with limited reported associations to overlay meaningful phenotypic context on the range of conditions being considered for drugs targeting this pathway.
- Subjects
T helper cells; INTERLEUKIN-17; HUMAN genetic variation; AUTOIMMUNITY; TONSILLECTOMY
- Publication
PLoS ONE, 2017, Vol 12, Issue 11, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0186405