Table 2.
Trans-ethnic replication of MAP and PP loci among East Asian samples of the AGEN consortium.
| Locus | Marker | Chromosome | Position (build 36.3) |
Nearest Gene | CA/OA | CAF | Stages | N | MAP |
PP |
Previously reported phenotype |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Beta* | (SE) | P | Beta* | (SE) | P | ||||||||||
| 3p21.31 | rs319690 | 3 | 47902488 | MAP4† | T/C | 0.71 | Stage 1 | 26263 | 0.28 | (0.12) | 2.06E-02 | 0.11 | (0.11) | 3.42E-01 | MAP |
| Stage 2 | 5583 | 0.20 | (0.22) | 3.65E-01 | 0.06 | (0.21) | 7.65E-01 | ||||||||
| Stages 1+2 | 31845 | 0.26 | (0.11) | 1.36E-02 | 0.10 | (0.10) | 3.28E-01 | ||||||||
| 4q21.21 | rs13149993 | 4 | 81377319 | FGF5 | A/G | 0.41 | Stage 1 | 25964 | 0.32 | (0.11) | 4.57E-03 | 0.37 | (0.11) | 5.67E-04 | MAP |
| Stage 2 | 5495 | 0.51 | (0.21) | 1.35E-02 | 0.06 | (0.20) | 7.56E-01 | ||||||||
| Stages 1+2 | 31459 | 0.37 | (0.10) | 2.39E-04§ | 0.30 | (0.09) | 1.51E-03‖ | ||||||||
| 5p13.3 | rs1173771‡ | 5 | 32850785 | NPR3 | A/G | 0.37 | Stage 1 | 26399 | −0.28 | (0.11) | 1.30E-02 | −0.25 | (0.11) | 1.84E-02 | MAP, PP |
| Stage 2 | 5477 | −0.08 | (0.21) | 7.05E-01 | 0.11 | (0.19) | 5.62E-01 | ||||||||
| Stages 1+2 | 31876 | −0.24 | (0.10) | 1.84E-02 | −0.17 | (0.09) | 7.39E-02 | ||||||||
| 10q24.32 | rs3824755 | 10 | 104585839 | CYP17A1† | C/G | 0.32 | Stage 1 | 26130 | −0.50 | (0.12) | 2.42E-05 | −0.28 | (0.11) | 1.46E-02 | MAP‖ PP |
| Stage 2 | 5571 | −0.51 | (0.21) | 1.65E-02 | −0.25 | (0.20) | 2.12E-01 | ||||||||
| Stages 1+2 | 31700 | −0.50 | (0.10) | 1.21E-06§ | −0.27 | (0.10) | 6.12E-03 | ||||||||
| 10q24.33 | rs11191593‡ | 10 | 104929205 | NT5C2† | T/C | 0.74 | Stage 1 | 26044 | 0.60 | (0.13) | 2.76E-06 | 0.38 | (0.12) | 1.50E-03 | MAP, PP¶ |
| Stage 2 | 5577 | 0.37 | (0.23) | 1.15E-01 | 0.21 | (0.22) | 3.26E-01 | ||||||||
| Stages 1+2 | 31621 | 0.54 | (0.11) | 1.13E-06§ | 0.34 | (0.11) | 1.14E-03§ | ||||||||
| 12q21.33 | rs2681492 | 12 | 88537220 | ATP2B1† | T/C | 0.67 | Stage 1 | 16915 | 0.55 | (0.15) | 1.65E-04 | 0.19 | (0.15) | 1.94E-01 | MAP, PP |
| Stage 2 | 5577 | 0.73 | (0.21) | 4.47E-04 | 0.51 | (0.19) | 8.81E-03 | ||||||||
| Stages 1+2 | 22492 | 0.61 | (0.12) | 3.39E-07§ | 0.31 | (0.12) | 9.02E-03 | ||||||||
| 12q21.33 | rs17249754‡ | 12 | 88584717 | ATP2B1 | A/G | 0.35 | Stage 1 | 25401 | −0.82 | (0.12) | 3.65E-12 | −0.40 | (0.11) | 2.76E-04 | MAP, PP |
| Stage 2 | 5504 | −0.75 | (0.21) | 4.55E-04 | −0.49 | (0.20) | 1.37E-02 | ||||||||
| Stages 1+2 | 30905 | −0.80 | (0.10) | 7.48E-15§ | −0.42 | (0.10) | 1.21E-05§ | ||||||||
CA=Coded allele; CAF=CA frequency; MAP=Mean arterial pressure; N=Effective sample size; OA=Other allele; Position=Physical Position (in basepairs); PP=Pulse pressure; SE=Standard error.
Beta is the effect size in mmHg per coded allele based on an additive genetic model.
Corresponding marker lays within reported gene.
The variant [or its proxy (r2>0.8)] was previously implicated for SBP or DBP in the genome-wide association study meta-analysis of East Asians conducted by Kato and colleagues.
Significant after Bonferonni correction for 37 statistical tests.
Although there is evidence of significance for PP, this variant was only identified for MAP in the study by Wain and colleagues. Therefore, this does not represent evidence of trans-ethnic replication.frs1004467, a proxy for rs3824755 in East Asian samples (r2=0.95), achieved genome-wide significance for MAP in the study by Wain and colleagues.
rs11191548, a proxy for rs1191593 in East Asian samples (r2=1.00), achieved genome-wide significance for PP in the study by Wain and colleagues.