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. 2021 May 3;131(9):e141676. doi: 10.1172/JCI141676

Figure 1. Outline of DUOX2/DUOXA2-specific multiomic PheWAS.

Figure 1

We identified all rare (AF < 0.01) protein-altering DUOX2/DUOXA2 variants found in whole-genome sequencing data of 2872 participants of a lifestyle coaching program. Baseline phenotyping obtained for all participants comprised 124 clinical laboratory tests, 951 plasma metabolites, 266 plasma proteins related to inflammation and cardiovascular health, and 16S rRNA-based profiling data of the fecal microbiome. We used rare-variant test statistics (SKAT-O) to find statistical associations between the identified variants and the quantitative phenotypes.