Phenome-Wide Association Study Using Research Participants' Self-Reported Data Provides Insight Into The Th17 And Il-17 Pathway
PLOS ONE(2017)
摘要
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 23 and Me. Results replicated known associations with similar effect sizes for auto immune 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.11e684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381GIn in IL23R with a decrease in dandruff frequency, the variant encoding p.AsplOAsn 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.
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