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Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene

Figure 1

Study overview.

(A) Primary GWAS was conducted using subjects from CAMP, LOCCS, LODO, Sepracor, ACRN, and CARE cohort. Samples genotyped on Illumina platforms (i.e. CAMP/LOCCS/LODO/Sepracor) were pooled and analyzed first. Results from samples genotyped on Affymetrix platforms were analyzed separately and then combined to obtain the primary GWAS results. 1000GP imputed data was utilized to expand the primary GWAS association results. (B) Replication of the top (i.e. P-value<1E-04) SNPs from the primary GWAS were attempted in two independent populations: SARP and DAG. (C) The SPATS2L gene was selected for functional validation based on nominal replication of association results in SARP and analysis of publicly available resources.

Figure 1

doi: https://doi.org/10.1371/journal.pgen.1002824.g001