Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

For four variants, the IL23R missense variant encoding p.Arg381Gln (rs11209026; c.1142G>A; MAF = 0.07), the RORC regulatory variant (rs4845604; c.70+225C>T; MAF = 0.14), the TRAF3IP2 missense variant encoding p.Asp10Asn (rs33980500; c.28G>A; MAF = 0.08), and the TYK2 missense variant encoding p.Ile684Ser (rs12720356; c.2051T>G; MAF = 0.09), we observed a large number of highly significant associations (six or more per variant at 5% FDR), including traits with both previously known and novel associations.

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For these four variants, and also for the IL17RB nonsense variant encoding p.Gln484Stop (rs1043261; c.1450C>T; MAF = 0.08), we identified, at 5% FDR, a number of previously unreported associations, albeit some at borderline significance levels, which we discuss further below.

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