Table 2.
Results of GEE and FBAT Additive Genetic Effects: Association, Linkage, and Heritability of Blood Pressure and Arterial Stiffness Phenotypes
| 2a. Results of GEE Additive Genetic Effects Models | |||||||
|---|---|---|---|---|---|---|---|
| Phenotype | Exam | SNP | Chr. | Position | GEE P value | FBAT P value | Gene |
| Diastolic Blood Pressure | |||||||
| DBP | 7 | rs1963982 | 8 | 73,269,470 | 3.31 × 10-6 | 0.002 | |
| DBP | 1 | rs935334 | 14 | 75,683,431 | 3.32 × 10-6 | 0.002 | |
| DBP | 7 | rs4370013 | 3 | 2,629,691 | 3.73 × 10-6 | 0.032 | CNTN4 |
| DBP | 7 | rs10491334 | 5 | 110,800,303 | 4.47 × 10-6 | 0.133 | CAMK4 |
| DBP | 1 | rs2121070 | 14 | 75,720,517 | 4.88 × 10-6 | 0.02 | C14orf118 |
| DBP | 1 | rs2509458 | 6 | 88,709,299 | 6.94 × 10-6 | 0.001 | |
| DBP | 7 | rs6950982 | 7 | 100,360,038 | 1.22 × 10-5 | 0.036 | TRIM56, SERPINE1, AP1S1 |
| DBP | 7 | rs10510911 | 3 | 63,678,681 | 1.65 × 10-5 | 0.021 | |
| DBP | 1 | rs1816088 | 5 | 39,897,583 | 1.73 × 10-5 | 0.012 | |
| DBP | 7 | rs1519592 | 6 | 140,585,329 | 1.89 × 10-5 | 2.83 × 10-4 | |
| Systolic Blood Pressure | |||||||
| SBP | 1 | rs10493340 | 1 | 63,303,150 | 1.69 × 10-6 | 0.13 | |
| SBP | 7 | rs1841055 | 4 | 70,039,785 | 2.07 × 10-5 | 0.003 | UGT2A3 |
| SBP | 1 | rs2035254 | 3 | 107,292,420 | 2.20 × 10-5 | 0.046 | |
| SBP | 1–7 | rs1408263 | 6 | 18,515,722 | 2.43 × 10-5 | 0.121 | IBRDC2 |
| SBP | 7 | rs1408113 | 9 | 113,822,387 | 2.54 × 10-5 | 0.034 | ZNF618 |
| SBP | 7 | rs629448 | 9 | 26,263,322 | 3.14 × 10-5 | 0.011 | |
| SBP | 7 | rs10485320 | 6 | 47,884,860 | 3.28 × 10-5 | 0.012 | OPN5 |
| SBP | 7 | rs10512889 | 5 | 6,921,922 | 4.17 × 10-5 | 0.008 | |
| SBP | 1 | rs1328925 | 4 | 159,547,895 | 4.32 × 10-5 | 0.118 | TMEM144 |
| SBP | 7 | rs9321764 | 6 | 140,532,157 | 4.39 × 10-5 | 4.76 × 10-4 | |
| Tonometry Phenotypes | |||||||
| RW | 7 | rs6063312 | 20 | 46,776,466 | 2.09 × 10-6 | 0.063 | PREX1 |
| CB-PWV | 7 | rs770189 | 5 | 88,124,195 | 2.53 × 10-6 | 0.005 | MEF2C |
| CB-PWV | 7 | rs10514688 | 3 | 34,937,673 | 5.66 × 10-6 | 0.027 | |
| CB-PWV | 7 | rs7042864 | 9 | 107,951,862 | 6.13 × 10-6 | 0.077 | |
| MAP | 7 | rs1322512 | 6 | 153,040,067 | 7.76 × 10-6 | 0.038 | SYNE1 |
| FW | 7 | rs348384 | 19 | 6,503,386 | 1.16 × 10-5 | 0.058 | TUBB4, TNFSF9, TNFSF7 |
| RW | 7 | rs10507514 | 13 | 42,132,814 | 1.28 × 10-5 | 0.066 | TNFSF11 |
| FW | 7 | rs3793427 | 8 | 17,188,201 | 1.43 × 10-5 | 0.059 | VPS37A |
| RW | 7 | rs10506928 | 12 | 85,003,844 | 1.62 × 10-5 | 0.021 | |
| FW | 7 | rs4075701 | 2 | 116,146,020 | 1.63 × 10-5 | 0.025 | |
| RW | 7 | rs11784583 | 8 | 103,154,213 | 3.83 × 10-5 | 0.036 | |
| RW | 7 | rs10513957 | 18 | 65,039,417 | 4.15 × 10-5 | 0.019 | |
| CF-PWV | 7 | rs10506440 | 12 | 60,993,853 | 4.18 × 10-5 | 0.064 | USP15 |
| RW | 7 | rs1197850 | 13 | 34,828,744 | 4.57 × 10-5 | 0.042 | |
| 2b. Results of FBAT Additive Genetic Effects Models | |||||||
| Phenotype | Exam | SNP | Chr. | Position | GEE P value | FBAT P Value | Gene |
| DBP | 1 | rs1590919 | 13 | 104,000,000 | 0.079 | 1.42 × 10-6 | |
| DBP | 1–7 | rs636864 | 6 | 150,000,000 | 4.49 × 10-4 | 1.55 × 10-6 | |
| DBP | 1 | rs726698 | 2 | 35,366,992 | 0.02 | 1.15 × 10-5 | |
| DBP | 7 | rs1338657 | 6 | 103,000,000 | 0.001 | 2.57 × 10-5 | |
| DBP | 1–7 | rs10506595 | 12 | 69,191,621 | 0.133 | 3.40 × 10-5 | PTPRB |
| DBP | 7 | rs9311171 | 3 | 37,971,481 | 0.025 | 4.03 × 10-5 | CTDSPL |
| DBP | 1 | rs10520569 | 15 | 82,520,393 | 0.577 | 4.24 × 10-5 | ADAMTSL3 |
| DBP | 7 | rs4514016 | 8 | 120,000,000 | 3.70 × 10-5 | 4.52 × 10-5 | SAMD12 |
| DBP | 7 | rs2322509 | 8 | 27,052,291 | 0.172 | 4.91 × 10-5 | |
| DBP | 1–7 | rs10504389 | 8 | 66,718,741 | 0.1 | 5.53 × 10-5 | ARMC1, MTFR1 |
| SBP | 1 | rs1588260 | 5 | 121,000,000 | 0.001 | 3.43 × 10-6 | |
| SBP | 1 | rs726698 | 2 | 35,366,992 | 0.023 | 2.70 × 10-5 | |
| SBP | 7 | rs963328 | 1 | 209,000,000 | 0.036 | 3.01 × 10-5 | |
| SBP | 7 | rs729053 | 18 | 50,960,679 | 0.008 | 3.41 × 10-5 | |
| SBP | 7 | rs1434939 | 8 | 69,666,816 | 0.004 | 4.97 × 10-5 | |
| SBP | 1–7 | rs10498500 | 14 | 62,030,261 | 0.005 | 6.25 × 10-5 | |
| SBP | 1 | rs3853241 | 5 | 166,000,000 | 0.003 | 6.25 × 10-5 | |
| SBP | 1–7 | rs1590919 | 13 | 104,000,000 | 0.14 | 6.66 × 10-5 | |
| SBP | 1 | rs6763833 | 3 | 65,953,132 | 0.374 | 8.18 × 10-5 | MAGI1 |
| SBP | 7 | rs6940110 | 6 | 10,377,050 | 0.145 | 8.42 × 10-5 | |
| FW | 7 | rs1539377 | 9 | 81,441,976 | 5.48 × 10-5 | 5.26 × 10-6 | TLE1 |
| RW | 7 | rs792833 | 3 | 101,000,000 | 0.123 | 6.01 × 10-6 | COL8A1 |
| MAP | 7 | rs10495191 | 1 | 219,000,000 | 0.007 | 1.46 × 10-5 | TAF1A |
| CB-PWV | 7 | rs10494786 | 1 | 196,000,000 | 0.079 | 1.56 × 10-5 | |
| CB-PWV | 7 | rs2160595 | 18 | 61,742,129 | 0.001 | 2.38 × 10-5 | CDH7 |
| FW | 7 | rs28899 | 5 | 82,798,839 | 0.001 | 2.99 × 10-5 | VCAN |
| CF-PWV | 7 | rs1349721 | 4 | 86,693,958 | 0.105 | 3.34 × 10-5 | ARHGAP24 |
| CB-PWV | 7 | rs3001450 | 9 | 93,164,925 | 0.61 | 3.91 × 10-5 | WNK2 |
| CB-PWV | 7 | rs1389608 | 14 | 46,027,527 | 0.111 | 4.08 × 10-5 | |
| RW | 7 | rs10499221 | 6 | 141,000,000 | 0.003 | 5.92 × 10-5 | |
| 2c. Linkage Results | |||||||
| Phenotype | Exam | LOD | Chr. | Position | Lower bound* | Upper bound | |
| DBP | 1–7 | 2.03 | 17 | 12,245,760 | 9,173,838 | 16,450,642 | |
| SBP | 1–7 | 3 | 15 | 100,152,332 | 97,636,843 | 100,152,332 | |
| SBP | 7 | 2.55 | 15 | 79,161,506 | 75,509,164 | 85,958,968 | |
| SBP | 7 | 2.39 | 3 | 129,657,137 | 105,768,506 | 141,888,352 | |
| SBP | 1–7 | 2.18 | 5 | 41,710,612 | 36,665,015 | 67,696,396 | |
| SBP | 1–7 | 2.07 | 3 | 107,844,505 | 99,203,989 | 144,119,612 | |
| SBP | 7 | 2.06 | 12 | 101,785,625 | 94,922,502 | 107,253,596 | |
| RW | 7 | 5.02 | 8 | 19,102,897 | 17,257,073 | 21,506,898 | |
| RW | 7 | 3.35 | 9 | 10,499,434 | 6,759,229 | 10,671,522 | |
| RW | 7 | 3.17 | 4 | 169,091,021 | 162,723,480 | 170,955,956 | |
| CF-PWV | 7 | 3.04 | 2 | 74,021,676 | 49,795,460 | 103,043,940 | |
| CF-PWV | 7 | 2.68 | 18 | 40,229,747 | 38,788,852 | 43,206,229 | |
| FW | 7 | 2.47 | 3 | 60,298,724 | 24,621,158 | 62,757,508 | |
| RW | 7 | 2.47 | 15 | 100,152,332 | 94,749,239 | 100,152,332 | |
| CF-PWV | 7 | 2.43 | 15 | 99,551,603 | 92,469,518 | 100,152,332 | |
| RW | 7 | 2.29 | 1 | 12,153,078 | 4,266,833 | 17,528,974 | |
| CF-PWV | 7 | 2.17 | 4 | 11,998,283 | 7,901,357 | 25,777,055 | |
| 2d. Heritability of Blood Pressure and Arterial Stiffness Phenotypes | |||||||
| Phenotype | Exam | Heritability | s.e. | ||||
| DBP | 1 | 0.3 | 0.04 | ||||
| DBP | 7 | 0.35 | 0.06 | ||||
| DBP | 1–7 | 0.55 | 0.05 | ||||
| SBP | 1 | 0.28 | 0.04 | ||||
| SBP | 7 | 0.45 | 0.06 | ||||
| SBP | 1–7 | 0.57 | 0.04 | ||||
| CB-PWV | 7 | 0.02 | 0.09 | ||||
| CF-PWV | 7 | 0.43 | 0.1 | ||||
| FW | 7 | 0.22 | 0.09 | ||||
| MAP | 7 | 0.32 | 0.1 | ||||
| RW | 7 | 0.66 | 0.1 | ||||
Association results based on minor allele frequency >= 0.1, HWE p value >= 0.001, call rate >= 0.8
CB-PWV = carotid-brachial pulse wave velocity; CF-PWV = carotid-femoral pulse wave velocity; DBP = diastolic blood pressure; FW = forward wave amplitude; MAP = mean arterial pressure; RW = reflected wave amplitude; SBP = systolic blood pressure
*Lower and upper bounds for LOD-1.5 interval.