Table 4.
Significant cis-Expression Quantitative Trait Locus Results with False Discovery Rate Lower than 0.05 for 6,509 Chronic Obstructive Pulmonary Disease Fine-Mapped Risk SNPs around 82 Chronic Obstructive Pulmonary Disease Genome-wide Association Study Loci
| SNP* | Ref | Alt | SNP Location | GWAS SNP Region (LD r2) | Top Protein Region | Gene Name (UniProt) | Gene Location | QTL |
||
|---|---|---|---|---|---|---|---|---|---|---|
| P Value† | FDR‡ | β (SE)† | ||||||||
| rs17572893 | G | A | chr17:45986842 | rs12373142 (0) | NA | MAPT (P10636) | chr17:45894527-46028334 | 2.10 × 10−11 | 2.67 × 10−9 | −0.493 (0.065) |
| rs1153594 | C | T | chr3:25518437 | rs1529672 (0.622) | NA | TOP2B (Q02880) | chr3:25597984-25664907 | 1.05 × 10−3 | 7.70 × 10−3 | −0.201 (0.059) |
| rs12362740 | A | T | chr11:86765648 | rs117261012 (0.726) | NA | HIKESHI (Q53FT3) | chr11:86302211-86345943 | 1.21 × 10−3 | 8.85 × 10−3 | 0.136 (0.041) |
| rs12522114 | C | A | chr5:52891207 | rs1551943 (0.629) | NA | ITGA1 (P56199) | chr5:52787916-52959209 | 1.22 × 10−3 | 8.86 × 10−3 | −0.35 (0.105) |
| rs2399796 | G | A | chr10:12214560 | rs7068966 (0.704) | NA | CAMK1D (Q8IU85) | chr10:12349547-12835545 | 1.89 × 10−3 | 1.37 × 10−2 | −0.176 (0.055) |
| rs798498 | T | G | chr7:2756248 | rs798565 (0.677) | NA | SNX8 (Q9Y5X2) | chr7:2251770-2354318 | 4.93 × 10−3 | 3.54 × 10−2 | 0.135 (0.047) |
| rs3131064 | T | C | chr6:30796116 | rs2284174 (0.721) | NA | NRM (Q8IXM6) | chr6:30688047-30691420 | 6.09 × 10−3 | 4.36 × 10−2 | 0.151 (0.054) |
Definition of abbreviations: eQTL = expression quantitative trait locus; GWAS = genome-wide association study; LD r2 = linkage disequilibrium squared coefficient of correlation; NA = not applicable; QTL = quantitative trait locus.
*
For genomic regions around each protein, only one significant top eQTL association is presented.
†
Positive β-coefficients mean higher expression level for the alternative allele.
‡
FDRs were adjusted with COPD risk SNPs.