Cytokine-induced molecular responses in airway smooth muscle cells inform genome-wide association studies of asthma

Table 3 Airway smooth muscle QTLs are enriched for asthma GWAS SNPs. Results of enrichment testing for molecular QTLs (lfsr < 0.05), cellular QTLs (P < 0.01), and BRI GWAS SNPs (P < 0.01) among GWAS SNPs with small P values (P < 0.01) using GARFIELD [37]

GWAS (Pividori et al. [16])	Enrichment P value^a	GWAS P value threshold^b	Fold enrichment	Number of lead SNPs
A) Adult-onset asthma (26–65 years) (21,564 cases and 318,237 controls)	0.38	0.01	0.87	59
	0.88	0.001	0.95	12
	0.38	1 × 10⁻⁴	0.41	1
B) Childhood-onset asthma (< 12 years) (9433 cases and 318,237 controls)	9.96 × 10⁻⁵	0.01	1.57	99
	0.0031	0.001	2.06	31
	0.0018	1 × 10⁻⁴	2.62	13

^aRefers to the P value of the enrichment at the corresponding GWAS P value threshold (third column)
^bThe three significant enrichments (i.e., at GWAS P value thresholds of 0.01, 0.001, and 1 × 10⁻⁴) in the childhood-onset asthma GWAS are shown; the same three thresholds are shown for the adult-onset GWAS for comparison, despite the lack of significant enrichments

ISSN: 1756-994X