Table 5.
SNPs association with blood pressure and altered tissue-specific gene expression
| SNP | Chr | Position | Nearest gene(s) | SBP pval | DBP pval | HTN pval | Expressed Gene(s) | eSNP pval‡ |
|---|---|---|---|---|---|---|---|---|
| Liver eSNPs | ||||||||
| rs7537765 | 1 | 11809889 | NPPA; NPPB; CLCN6; MTHFR | 1.8E-05 | 9.2E-04 | 1.5E-04 | CLCN6 | 1.4E-07 |
| rs249209 | 5 | 79902964 | DHFR; DP58; UNQ9217 | 8.5E-05 | 0.07 | 1.2E-03 | HSS00169533 | 4.4E-05 |
| rs10963072 | 9 | 17368775 | C9orf39 | 0.03 | 0.11 | 6.3E-05 | C9orf39 | 2.0E-06 |
| rs525381 | 12 | 255052 | JARID1A; SLC6A13 | 9.3E-05 | 0.14 | 5.3E-04 | CCDC77; SLC6A12 | 2.1E-10 |
| rs739496 | 12 | 110372041 | SH2B3; ATXN2 | 2.9E-04 | 1.3E-05 | 0.01 | HSS00340376 | 1.1E-06 |
| rs7312321 | 12 | 118520617 | CCDC60 | 9.0E-04 | 0.03 | 6.0E-05 | Contig30372_RC | 1.1E-30 |
| rs6495126 | 15 | 72962078 | MPI/SCAMP2/ULK3 | 3.0E-04 | 3.6E-05 | 1.2E-04 | ULK3; AK001918; RPP25 | 8.6E-06 |
| Lymphoblastoid cell line eSNPs | ||||||||
| rs1384883 | 1 | 74274065 | FPGT | 9.9E-03 | 7.2E-05 | 2.5E-03 | LRRC44;BC042056 | 1.4E-21 |
| rs12466395 | 2 | 190488943 | PMS1 | 8.8E-04 | 5.3E-05 | 8.8E-05 | ORMDL1 | 2.4E-15 |
| rs7571613 | 2 | 190513907 | PMS1 | 7.3E-07 | 2.2E-06 | 5.3E-04 | ORMDL1;PMS1 | 1.5E-08 |
| rs1454301 | 2 | 190518307 | PMS1 | 1.1E-06 | 2.2E-06 | 1.1E-03 | PMS1;ORMDL1 | 2.5E-09 |
| rs2053163 | 2 | 190535268 | PMS1 | 1.7E-05 | 5.8E-06 | 5.8E-03 | ORMDL1 | 2.1E-12 |
| rs6749643 | 2 | 190543718 | MSTN | 1.6E-06 | 2.2E-06 | 7.3E-04 | ORMDL1;PMS1 | 5.5E-09 |
| rs7575810 | 2 | 190560410 | MSTN | 2.5E-05 | 2.7E-05 | 0.03 | ORMDL1 | 3.6E-10 |
| rs1474359 | 2 | 190641251 | MSTN | 1.9E-05 | 1.2E-05 | 1.0E-03 | ORMDL1;PMS1 | 1.7E-11 |
| rs1052501 | 3 | 41900402 | ULK4 | 0.84 | 4.2E-05 | 0.64 | ULK4 | 3.9E-08 |
| rs1716975 | 3 | 41935010 | ULK4 | 0.94 | 2.2E-06 | 0.96 | ULK4 | 7.9E-08 |
| rs2272007 | 3 | 41971140 | ULK4 | 0.87 | 1.5E-06 | 0.83 | ULK4 | 2.7E-08 |
| rs4572871 | 4 | 83979911 | SEC31A; SCD5 | 2.3E-05 | 9.7E-03 | 3.5E-04 | SCD5 | 6.4E-41 |
| rs6601414 | 8 | 10014158 | MSRA | 3.0E-04 | 3.4E-05 | 4.9E-03 | C8orf5 | 8.2E-09 |
| rs13254942 | 8 | 10295088 | MSRA | 5.6E-05 | 1.9E-03 | 1.5E-04 | C8orf5;FAM167A | 1.0E-08 |
| rs2898290 | 8 | 11471318 | BLK | 2.3E-05 | 7.0E-03 | 7.9E-05 | C8orf5;FAM167A;BLK | 3.7E-12 |
| rs4980878 | 12 | 297338 | JARID1A; SLC6A13 | 4.8E-05 | 0.12 | 1.6E-04 | JARID1A | 2.7E-09 |
| rs1860360 | 12 | 364161 | JARID1A; CCDC77 | 6.2E-05 | 0.10 | 1.6E-04 | JARID1A | 2.7E-09 |
Highlighted p values are < 1/n, where n is the number of eSNPs interrogated.
‡
p value for association of eSNP with gene expression in liver or lymphoblastoid cell lines.
DBP=diastolic blood pressure; HTN=hypertension; SBP=systolic blood pressure