Table 3.
Association of CHARGE eSNPS with blood pressure phenotypes in the WGHS
| SNP | Chromosome (Position, NCBI 36.3) | Nearest Gene(s) | Expressed gene | Allele (coded/other) | Freq. coded allele | CHARGE p-values* | WGHS p-values† | ||
|---|---|---|---|---|---|---|---|---|---|
| SBP | DBP | SBP | DBP | ||||||
| Liver eSNPs | |||||||||
| rs7537765 | 1 (11,809,890) | CLCN6; MTHFR;NPPA | CLCN6 | A/G | 0.84 | 1.8E-05 | 9.2E-04 | 5.2E-05 | 1.1E-04 |
| rs249209 | 5 (79,902,965) | ANKRD34B | HSS00169533 | G/T | 0.41 | 8.5E-05 | 0.07 | 0.85 | 0.73 |
| rs525381 | 12 (255,053) | KDM5A; SLC6A13 | CCDC77; SLC6A12 | A/G | 0.28 | 9.3E-05 | 0.14 | 0.04 | 0.06 |
| rs739496 | 12 (110,372,042) | SH2B3; ATXN2 | HSS00340376 | A/G | 0.79 | 2.9E-04 | 1.3E-05 | 0.01 | 0.02 |
| rs6495126 | 15 (72,962,079) | MPI;SCAMP2; ULK3 | ULK3;RPP25; AK001918; | A/G | 0.30 | 3.0E-04 | 3.6E-05 | 1.1E-04 | 3.7E-05 |
| Lymphoblastoid cell line eSNPs | |||||||||
| rs1384883 | 1 (74,274,065) | LRRIQ3 | LRRC44;BC042056 | C/T | 0.46 | 9.9E-03 | 7.2E-05 | 0.51 | 0.56 |
| rs12466395 | 2 (190,488,943) | PMS1 | ORMDL1 | A/G | 0.22 | 8.8E-04 | 5.3E-05 | 0.37 | 0.28 |
| rs7571613 | 2 (190,513,907) | MSTN | ORMDL1;PMS1 | A/G | 0.82 | 7.3E-07 | 2.2E-06 | 0.67 | 0.88 |
| rs2272007 | 3 (41,971,140) | ULK4 | ULK4 | C/T | 0.83 | 0.87 | 1.5E-06 | 0.22 | 0.37 |
| rs4572871 | 4 (83,979,911) | SEC31A; SCD5 | SCD5 | A/G | 0.21 | 2.3E-05 | 9.7E-03 | 2.4E-03 | 3.1E-03 |
| rs6601414 | 8 (10,014,158) | MSRA | C8orf5 | A/G | 0.46 | 3.0E-04 | 3.4E-05 | 6.9E-04 | 0.01 |
| rs2898290 | 8 (11,471,318) | BLK;GATA4 | C8orf5;BLK; FAM167A; | C/T | 0.53 | 2.3E-05 | 7.0E-03 | 4.1E-04 | 0.02 |
*
Bold face font indicates statistical significance met in CHARGE at P = 1/n (n = number of eSNPs interrogated in CHARGE)
†
Bold face font indicates replication threshold met in WGHS at P < 1.2 × 10−3 for primary traits, and P < 5.8 × 10−4 for non-primary traits