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Table 2 Results of GEE and FBAT Additive Genetic Effects: Association, Linkage, and Heritability of Blood Pressure and Arterial Stiffness Phenotypes

From: Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness

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     
  1. Association results based on minor allele frequency >= 0.1, HWE p value >= 0.001, call rate >= 0.8
  2. 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
  3. *Lower and upper bounds for LOD-1.5 interval.
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