Table 3.
Blood pressure/hypertension loci discovered via genome-wide association studies as of 3/31/10; p<5.0×10−8
| Reported gene | Associated SNPs | Region | Trait | Risk allele | Risk allele frequency† | Reference(s) |
|---|---|---|---|---|---|---|
|
| ||||||
| MTHFR/NPPA/CLCN6/NPPB/AGTRAP | rs17367504 | 1p36.22 | SBP | A | 0.832* | [174]* |
| CHB: 0.900 | ||||||
|
| ||||||
| ULK4 | rs9815354 | 3p22.1 | DBP | A | 0.228 | [173] |
|
| ||||||
| FGF5/PRDM8 | rs16998073 | 4q21.21 | DBP | T | 0.192 | [174]* |
| CHB: 0.159 | ||||||
|
| ||||||
| CACNB2 | rs11014166 | 10p12.33 | DBP | A | 0.633 | [173] |
|
| ||||||
| TMEM26/RTKN2/RHOBTB1/ARID5B | rs1530440 | 10q21.2 | DBP | C | 0.839 | [174]* |
| CHB: 0.932 | ||||||
|
| ||||||
| CYP17A1/AS3MT/CNNM2/NT5C2 | rs1004467 | 10q24.32 | SBP | A | 0.916 | [173] |
| rs11191548 | SBP | T | 0.925 | [174]* | ||
| CHB: 0.756 | ||||||
|
| ||||||
| PLAKHA7 | rs381815 | 11p15.1 | SBP | T | 0.297 | [173] |
|
| ||||||
| ATP2B1 | rs2681472 | 12q21.33 | Hyp/DBP | A | 0.885 | [173] |
| rs2681492 | SBP | T | 0.881 | [173] | ||
|
| ||||||
| SH2B3/ATXN2 | rs3184504 | 12q24.12 | SBP/DBP | T | 0.445 | [173] |
| rs653178 | DBP | C | 0.438 | [174]* | ||
| CHB: 0.000 | ||||||
|
| ||||||
| TBX3/TBX5 | rs2384550 | 12q24.21 | DBP | G | 0.633 | [173] |
|
| ||||||
| CYP1A1/CYP1A2/CSK/LMAN1L/CPLX3/ARID3B/ULK3 | rs1378942 | 15q24.1 | DBP | C | 0.321 | [174]* |
| CHB: 0.833 | ||||||
| rs6495122 | DBP | A | 0.379 | [173] | ||
|
| ||||||
| PLCD3/ACBD4/HEXIM1/HEXIM2 | rs12946454 | 17q21.31 | SBP | T | 0.245 | [174]* |
| CHB: 0.202 | ||||||
|
| ||||||
| ZNF652/PHB | rs16948048 | 17q21.32 | DBP | G | 0.416 | [174]* |
| CHB: 0.144 | ||||||
†
HapMap release 27, CEU population unless otherwise noted;
*
Replication sample included individuals of Indian Asian ancestry, we include CHB allele frequencies for reference; SBP, systolic blood pressure; DBP, diastolic blood pressure; Hyp, hypertension