Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways

BMC Genomics

Table 1 INTS12 cis-eQTLs at 4q24 locus

SNP	Position	FEV1 P-value	INTS12 eQTL FDR	INTS12 effect size	GSTCD eQTL FDR	GSTCD effect size
rs11732650	106973680	6.83E-09	0.000397993	−0.53	1	0
rs11722225	106985879	7.08E-09	0.000397993	−0.53	1	0
rs11726124	106985945	6.63E-09	0.000397993	−0.53	1	0
rs11728716	106975445	8.44E-09	0.000397993	−0.53	1	0
rs17036090	106813023	3.84E-08	0.000397993	−0.51	1	0.01
rs11735851	106916703	1.90E-09	0.000397993	−0.51	1	0.02
rs17036225	106929541	3.33E-09	0.000397993	−0.51	1	0.02
rs11736859	106928234	2.86E-09	0.000397993	−0.51	1	0.02
rs11727745	106935976	5.47E-09	0.000397993	−0.51	1	0.02
rs10516528	106959042	6.27E-09	0.000397993	−0.51	1	0.02
rs17036139	106852106	1.25E-09	0.000397993	−0.51	1	0.02
rs11727189	106838589	3.38E-09	0.000397993	−0.51	1	0.02
rs11731417	106965461	5.96E-09	0.000397993	−0.53	1	0
rs11733287	106924788	2.32E-09	0.000397993	−0.53	1	0
rs11728044	106824235	1.95E-09	0.000397993	−0.51	1	0.02
rs11733225	106924812	2.34E-09	0.000397993	−0.51	1	0.02
rs10516525	106887474	1.44E-09	0.000397993	−0.51	1	0.02
rs11724839	106857705	1.79E-09	0.000397993	−0.51	1	0.02
rs10516526	106908353	6.67E-10	0.000397993	−0.51	1	0.02
rs17036142	106854185	1.11E-09	0.000397993	−0.51	1	0.02
rs12374256	106836810	1.88E-09	0.000658031	−0.52	1	0.03
rs11097901	106949382	6.32E-09	0.000953622	−0.47	1	0.02

Genome-wide significant SNPs for lung function parameter forced expiratory volume in the first second (FEV1) also correlate with INTS12 expression in the human lung (FDR < 0.001). This observation is not true for the expression of neighbouring GSTCD, supporting the hypothesis that altered expression of INTS12 is driving the association signal for lung function. Effect size is defined as the slope of linear regression line relative to reference allele normalized as an expression of 1. The eQTL data was obtained from Genotype-Tissue Expression project, while per SNPs lung function significance values in linkage disequilibrium with INTS12 (r² > 0.8) are from Repapi et al. study (Repapi et al. 2010)[3]

ISSN: 1471-2164