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Results: 4

1.
Figure 3

Figure 3. Summary of BDR by genotype of the SNP (rs295137) near SPATS2L with lowest P-value among all subjects in the primary populations.. From: Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene.

The TT genotype was associated with higher BDR (median 16.0; inter-quartile range (IQR) = [6.2, 32.4]), than the TC genotype (median 11.2; IQR = [5.2, 22.6]) or the CC genotype (median 10.3; IQR = [4.1, 21.7]).

Blanca E. Himes, et al. PLoS Genet. 2012 July;8(7):e1002824.
2.
Figure 2

Figure 2. Region of association near SPATS2L SNPs to BDR.. From: Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene.

The x-axis denotes position along Chromosome 2. The y-axis denotes −Log10(P) corresponding to 1000GP imputed data P-values. LD between the SNP with the lowest P-value (rs295137) to each SNP in the plot is denoted in colors and was computed according to 1000GP June 2010 CEU data. Plot was created using LocusZoom [44].

Blanca E. Himes, et al. PLoS Genet. 2012 July;8(7):e1002824.
3.
Figure 4

Figure 4. Effect of siRNA-mediated SPATS2L knockdown on β2-adrenergic receptor levels in HASM cells.. From: Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene.

(A) Knockdown efficiency of two SPATS2L siRNAs. Quantitative real-time PCR was done on RNAs extracted from HASM cells transfected with control non-targeting (NT) or SPATS2L-specific siRNAs. (B) Western blot analysis of β2AR protein in SPATS2L knockdown HASM cells. Three independent experiments (siRNA transfection and Western blot analysis) were done in HASM cells. The upper panel is a representative of the three Western blots. Quantification of the β2AR protein amount (normalized against the control β-actin protein) from three Western blots is shown in the lower panel.

Blanca E. Himes, et al. PLoS Genet. 2012 July;8(7):e1002824.
4.
Figure 1

Figure 1. Study overview.. From: Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene.

(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.

Blanca E. Himes, et al. PLoS Genet. 2012 July;8(7):e1002824.

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