A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.

Within the allergic diseases and moderate-to-severe asthma gene-sets, FLG was nominally significant in the loss-of-function burden test (P = 0.024, OR = 1.473), and eight additional genes passed nominal significance in the high or moderate (PolyPhen > 0.5) impact burden test ( RERE, IQCB1, PPP2R3C, PITPNM2, DYNAP, TSLP, EAF2, RASA2) (Supplemental Tables S9 and S10 ).

also in 7,732 other papers

To do so we employed the rare variant burden test as this was compatible with the differential-effects test used in this study to flag results that may be significant due to the use of disease-controls.

also in 13,097 other papers