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. 2018 Jun 1;197(11):1421–1432. doi: 10.1164/rccm.201705-0961OC

Table 2.

Characteristics of the Acute Respiratory Distress Syndrome–associated SNPs and Associated Gene Sets

GWAS-associated Results
ICSNPathway-associated Results
−log10(Nominal GWAS P Value Threshold) Chromosome (Coordinate) Assayed SNP in GWAS Reference/Alternative Alleles GWAS Nominal P Value of Assayed SNP Minor Allele Frequency (1000 Genomes)
Functional Class/eQTL SNPs (Yes/No) Associated Gene Candidate Causal Pathway FDR-corrected P Value of Candidate Causal Pathway Prioritized with ICSNPathway Method Given Various Distances Flanking the Gene of Interest
African American European Within 5 KB 20 KB 100 KB
4 1 (236,739,416) rs2115740 T/C 6.53 × 10−5 0.4836 0.2992 Intronic (yes) HEATR1 GO:0042254: ribosome biogenesis and assembly 0.021 0.007 0.074 0.028
3 12 (109,017,898) rs2228315 T/C 2.74 × 104 0.2951 0.06759 Nonsynonymous coding, altering methionine to isoleucine (yes) SELPLG GO:0050901: leukocyte tethering or rolling 0.01 0.01 0.004 0.006
BIOCARTA pathway: granulocytes pathway 0.069 0.182 0.013 0.024
10 (71,176,066) rs61732394 T/C 6.24 × 10−4 0.08197 <0.0001 Nonsynonymous coding, altering aspartic acid to glycine (no) TACR2 GO:0008528: peptide receptor activity, G protein coupled 0.025 0.102 0.062 0.002
GO:0042277: peptide binding 0.029 0.205 0.02 0.002
GO:0042923: neurotransmitter binding 0.824 0.217 0.004 0.005
GO:0042923: neuropeptide binding 0.183 0.205 0.011 0.002
GO:0008188: neuropeptide receptor activity 0.073 0.048 0.011 0.022

Definition of abbreviations: eQTL = expression quantitative trait loci; FDR = false discovery rate; GWAS = genome-wide association study; ICSNPathway = Identify Candidate Causal SNPs and Pathways.