Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension
Abstract
:1. Introduction
2. Genetic Background of Essential Hypertension—Literature Review
Gene | SNPs | Related to | Reference |
---|---|---|---|
ADCY9 | rs2531995 | obesity | [12] |
AKTI | rs1130214 rs10141867 rs33925946 | metabolic syndrome | [13] |
APOA1/C3/A4/A5 | rs964184 | metabolic syndrome | [14] |
APOA5 | rs2266788 | metabolic syndrome | [14] |
APOC1 | rs4420638 | metabolic syndrome | [14] |
ATP2B1 | rs2681492 rs2681472 | hypertension | [15,16] |
BDNF | rs10767664 * rs4923461 rs6265 * rs2030323 rs925946 | obesity | [12,14,17] |
BRAP | rs11065987 | metabolic syndrome | [14] |
BUD13 | rs10790162 | metabolic syndrome | [14] |
CACNB2 | rs11014166 | hypertension | [15] |
CADM2 | rs13078807 rs17292179 * | obesity | [12,14,17,18] |
CASZ1 | rs880315 | hypertension | [16] |
CDH13 | rs11646213 | hypertension | [15] |
CDH17 | rs7006531 | hypertension | [19] |
CETP | rs173539 | metabolic syndrome | [14] |
CSK | rs1378942 | hypertension | [15,16] |
CSK-ULK4 | rs6495122 | hypertension | [15] |
CYP17A1 | rs11191548 rs1004467 rs12413409 | hypertension | [15,16] |
eNOS | rs1799983 | hypertension, obesity | [20] |
ETV5 | rs9816226 * rs7647305 rs17295554 * | obesity | [12,14,17] |
EVX1/HOXA cluster | rs11563582 | hypertension | [19] |
FAIM2 | rs7138803 | obesity | [12,14,17] |
FANCL | rs887912 | obesity | [12,14,17] |
FGF5 | rs16998073 | hypertension | [16] |
FLJ35779-POC5 | rs2112347 | obesity | [12] |
FRMD3 | rs115795127 | hypertension | [19] |
FTO | rs1558902 * rs1121980 * rs9939609 * rs8050136 * rs17817449 * rs12149832 * rs9930333 * | obesity | [12,14,17] |
GNAT2 | rs17024258 | obesity | [12] |
GNPDA2 | rs10938397 * | obesity | [12,14,17] |
GPRC5B | rs12444979 rs4780831 * | obesity | [12,14,17,18] |
GPR20 | rs78192203 | hypertension | [19] |
HOXA | rs6969780 | hypertension | [19] |
HS6ST3 | rs7989336 | obesity | [12] |
HNF4G | rs4735692 | obesity | [12] |
IGFBP3 | rs11977526 | hypertension | [19] |
ITGA9 | rs155524 | hypertension | [16] |
KCTD15 | rs29941 * rs11084753 | obesity | [12,14,17] |
LLPH/TMBIM4 | rs113866309 | hypertension | [19] |
LPL | rs295 | metabolic syndrome | [14] |
LRP1B | rs2890652 rs1476250 * | obesity | [12,14,17,18] |
LRRN6C | rs10968576 | obesity | [12,14] |
MAP2K5 | rs2241423 rs4776970 | obesity | [12,14,17] |
MC4R | rs571312 * rs12970134 * rs17773430 * rs17782313 | obesity | [12,14,17,18] |
MRPS22 | rs7638110 | obesity | [18] |
MRPS33P4 | rs13041126 | obesity | [12] |
MTCH2 | rs3817334 rs10838738 rs7120548 * | obesity | [12,14,17,18] |
MTHFR | rs17367504 | hypertension | [15] |
MTIF3 | rs4771122 rs1885989 * | obesity | [12,14,17,18] |
NEGR1 | rs2815752 * rs2568958 * rs2630397 * | obesity | [12,14,17,18] |
NRXN3 | rs10150332 * rs10483942 * | obesity | [12,14,17,18] |
NUDT3 | rs206936 | obesity | [12,14,17] |
PAX5 | rs16933812 | obesity | [18] |
PLCG1 | rs753381 | metabolic syndrome | [14] |
PLCD3 | rs12946454 | hypertension | [15] |
PLEKHA7 | rs381815 | hypertension | [15] |
PLEKHG1 | rs62434120 | hypertension | [19] |
PRDM8/FGF5 | rs16998073 | hypertension | [15] |
PRKD1 | rs11847697 | obesity | [12,14,17] |
PTBP2 | rs1555543 | obesity | [12,14,17] |
QPCTL | rs2287019 | obesity | [12,14,17] |
RBJ | rs713586 | obesity | [12,17] |
RPL27A | rs4929949 rs7925000 * | obesity | [12,14,17,18] |
RPTOR | rs7503807 | obesity | [12] |
SEC16B | rs543874 * rs574367 rs516636 * rs10159282 * rs10913469 | obesity | [12,14,17,18] |
SH2B1 | rs7359397 * rs7498665 | obesity | [12,14,17] |
SH2B3 | rs653178 rs3184504 | hypertension | [15] |
SLC39A8 | rs13107325 rs2165265 * | obesity | [12,14,17,18] |
STK39 | rs6749447 rs3754777 | hypertension | [15,21] |
TARID/TCF21 | rs76987554 | hypertension | [19] |
TBX3-TBX5 | rs2384550 | hypertension | [15] |
TFAP2B | rs987237 * | obesity | [12,14,17] |
TMEM160 | rs3810291 | obesity | [12,14] |
TMEM18 | rs2867125 * rs6548238 * rs7561317 * | obesity | [12,14,17] |
TNNI3K | rs1514175 | obesity | [12,14,17] |
ULK4 | rs9815354 rs7651190 rs7372217 | hypertension | [15,19] |
ZNF259 | rs2075290 | metabolic syndrome | [14] |
ZNF608 | rs4836133 rs4421098 * | obesity | [12,14,17,18] |
ZNF652 | rs16948048 | hypertension | [15] |
ZZZ3 | rs17381664 | obesity | [19] |
3. Materials and Methods
4. Results
5. Discussion
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Clinical Parameter | Group 1 | Group 2 | p-Value |
---|---|---|---|
Age | 14.71 (3.7) (2–21) | 12.83 (4.2) (2–19) | <0.001 |
Height (m) | 1.67 (0.2) (0.98–2.04) | 1.61 (0.2) (0.95–1.93) | <0.001 |
Weight (kg) | 64.82 (17.6) (14.5–99) | 80.8 (27.4) (18–157) | <0.001 |
BMI (kg/m2) | 22.43 (3.1) (13.5–27.8) | 29.93 (5.3) (19.1–48) | <0.001 |
Waist circumference (cm) | 79.81 (11) (46–112) | 95.29 (15.8) (59–150) | <0.001 |
Hip circumference (cm) | 92.9 (12) (54–127) | 104.9 (16.7) (63–159) | <0.001 |
Systolic pressure (mmHg) | 130.5 (10.1) (98–156) | 128.5 (11) (101–166) | 0.021 |
Diastolic pressure (mmHg) | 73.93 (8.5) (52–107) | 72.25 (8.8) (53–100) | 0.027 |
Glucose (mmol/L) | 4.7 (0.6) (3.5–7.1) | 4.8 (0.5) (3.6–7) | 0.037 |
Urea (mmol/L) | 4.38 (1) (2.2–7.6) | 4.28 (0.9) (2.3–8.1) | 0.385 |
Creatinine (µmol/L) | 69.3 (20.6) (25–237) | 60.64 (17) (22–120) | <0.001 |
Cystatin C (mg/L) | 0.78 (0.1) (0.47–1.04) | 0.8 (0.1) (0.57–1.15) | 0.489 |
Uric acid (µmol/L) | 285.3 (66.3) (139–509) | 313 (78) (105–551) | <0.001 |
Sodium (mmol/L) | 138.3 (1.8) (133–143) | 137.8 (1.9) (133–142) | 0.001 |
Potassium (mmol/L) | 4.14 (0.3) (3.37–5.48) | 4.27 (0.3) (3.66–5.36) | <0.001 |
Chlorides (mmol/L) | 102.3 (2.3) (93–109) | 102.9 (2.2) (96–109) | 0.009 |
Calcium (mmol/L) | 2.39 (0.2) (1.15–4.35) | 2.41 (0.2) (2.15–4.94) | 0.528 |
Magnesium (mmol/L) | 0.81 (0.1) (0.65–1.22) | 0.81 (0.1) (0.65–1.06) | 0.720 |
Phosphate (mmol/L) | 1.24 (0.2) (0.63–1.91) | 1.32 (0.3) (0.79–1.94) | 0.003 |
Cholesterol (mmol/L) | 4.34 (0.9) (2.5–7.55) | 4.45 (0.9) (1.76–6.85) | 0.077 |
Triglycerides (mmol/L) | 1.02 (0.6) (0.19–3.36) | 1.24 (0.7) (0.21–3.9) | <0.001 |
HDL (mmol/L) | 1.4 (0.3) (0.61–2.82) | 1.23 (1.5) (0.54–2.28) | <0.001 |
LDL (mmol/L) | 2.53 (0.7) (1–4.6) | 2.79 (0.8) (0.7–5.2) | 0.001 |
Homocysteine (µmol/L) | 10.92 (7) (3.5–77.5) | 9.74 (4.1) (3.8–36.1) | 0.016 |
Lp(a) (µmol/L) | 0.21 (0.3) (0.02–1.46) | 0.2 (0.3) (0.02–1.61) | 0.622 |
APOA1 (µmol/L) | 1.5 (0.3) (0.95–2.51) | 1.38 (0.3) (0.82–2.5) | <0.001 |
APOB (µmol/L) | 0.75 (0.2) (0.32–1.51) | 0.81 (0.2) (0.23–1.32) | 0.004 |
Leukocyte (×109) | 6.55 (1.8) (3.1–14.18) | 7.18 (2.1) (3.5–24.17) | <0.001 |
Erythrocyte (×109) | 5.06 (0.4) (4.1–6.7) | 5.16 (0.4) (4.2–6.1) | 0.005 |
Haemoglobin (g/L) | 146.7 (12.8) (112–177) | 144 (13.2) (116–176) | 0.010 |
Haematocrit | 0.42 (0.03) (0.35–0.5) | 0.42 (0.03) (0.34–0.5) | 0.116 |
MCV (fl) | 83.92 (6.4) (73–93.7) | 81.17 (4.9) (68–93.4) | <0.001 |
MCH (pg) | 29 (1.5) (24.8–32.2) | 27.8 (1.9) (21–31.3) | <0.001 |
MCHC (g/L) | 346 (10.2) (319–370) | 342.9 (10) (302–367) | 0.003 |
Platelets (×109) | 263.3 (61.3) (96–497) | 290 (59.9) (162–457) | <0.001 |
Gene | SNP | PCS Value | p-Value | Gene | SNP | PCS Value | p-Value |
---|---|---|---|---|---|---|---|
AGT | rs2004776 | 2.601 | 0.272 | near GNPDA2 | rs10938397 | 3.859 | 0.145 |
0.142 | 0.932 | 4.081 | 0.130 | ||||
SLC39A8 | rs13107325 | 4.529 | 0.104 | PCSK1-S690T | rs6232 | 7.121 | 0.028 |
3.938 | 0.140 | 2.588 | 0.274 | ||||
TNF ALPHA | rs1800629 | 3.026 | 0.220 | PCSK1-N221D | rs6235 | 9.156 | 0.010 |
3.477 | 0.176 | 1.356 | 0.508 | ||||
INPPL1 | rs2276047 | 3.050 | 0.218 | AIM2 | rs7132908 | 3.178 | 0.204 |
2.178 | 0.336 | 2.339 | 0.310 | ||||
HSD11B1 | rs3753519 | 3.865 | 0.145 | RBP4 | rs3758539 | 0.443 | 0.801 |
1.341 | 0.512 | 0.091 | 0.955 | ||||
MC4R | rs17782313 | 0.600 | 0.741 | RETN | rs1862513 | 0.492 | 0.782 |
0.524 | 0.770 | 0.152 | 0.927 | ||||
QPCTL | rs2287019 | 1.642 | 0.440 | near CYP17A1 | rs11191548 | 2.306 | 0.316 |
0.480 | 0.787 | 3.593 | 0.166 | ||||
INS-IGF2 | rs3842759 | 0.894 | 0.640 | SEC16B | rs10913469 | 0.575 | 0.750 |
0.828 | 0.661 | 2.360 | 0.307 | ||||
GPRC5B | rs12444979 | 2.221 | 0.329 | HOXB5 | rs9299 | 0.601 | 0.741 |
4.811 | 0.090 | 0.872 | 0.647 | ||||
TNNI3K | rs1514175 | 0.215 | 0.898 | SDCCAG8 | rs12145833 | 4.875 | 0.087 |
0.290 | 0.865 | 9.515 | 0.009 | ||||
CADM2 | rs13078807 | 2.109 | 0.348 | TNKS/MSRA | rs17150703 | 7.732 | 0.421 |
3.580 | 0.167 | 3.720 | 0.156 | ||||
near MAF | rs1424233 | 1.759 | 0.415 | GPR120-R67C | rs61866610 | 1.360 | 0.507 |
2.341 | 0.310 | 1.098 | 0.295 | ||||
NPC1 | rs1805081 | 0.232 | 0.890 | GPR120-R270H | rs116454156 | 1.098 | 0.295 |
0.737 | 0.692 | 0.193 | 0.979 | ||||
near PTER | rs10508503 | 1.826 | 0.401 | ZPR1 | rs964184 | 1.086 | 0.581 |
2.359 | 0.308 | 0.167 | 0.920 | ||||
FAIM2 | rs7138803 | 2.207 | 0.332 | BDNF | rs10767664 | 1.619 | 0.445 |
2.581 | 0.275 | 2.164 | 0.339 | ||||
KCNMA1 | rs2116830 | 1.155 | 0.561 | NAMPT | rs59744560 | 3.683 | 0.159 |
1.572 | 0.456 | 6.315 | 0.043 | ||||
ADRB3 | rs4994 | 3.148 | 0.207 | IGF2R | rs1570070 | 0.022 | 0.989 |
5.469 | 0.065 | 0.001 | 1.000 | ||||
SH2B1 | rs7498665 | 1.162 | 0.559 | ACE | rs4305 | 1.165 | 0.559 |
0.180 | 0.914 | 0.791 | 0.852 | ||||
TMEM18 | rs6548238 | 2.385 | 0.304 | FTO | rs9930506 | 5.068 | 0.079 |
0.479 | 0.787 | 1.186 | 0.756 | ||||
PAX5 | rs16933812 | 2.336 | 0.311 | MAP2K5 | rs2241423 | 1.652 | 0.438 |
0.848 | 0.655 | 1.220 | 0.748 | ||||
PLCG1 | rs753381 | 1.129 | 0.569 | NRXN3 | rs10150332 | 3.012 1.147 | 0.222 0.766 |
4.479 | 0.214 | ||||||
MRPS22 | rs7638110 | 0.888 | 0.642 | PRKD1 | rs11847697 | 0.601 | 0.741 |
1.356 | 0.716 | 0.117 | 0.943 | ||||
OLFM4 | rs9568856 | 8.992 | 0.011 | PTB2 | rs1555543 | 0.563 | 0.755 |
2.270 | 0.518 | 0.958 | 0.811 | ||||
near NEGR1 | rs1993709 | 0.462 | 0.794 | near CEPT | s173539 | 0.989 | 0.610 |
0.283 | 0.963 | 1.023 | 0.599 |
Clinical Parameter | rs6232 | rs6235 | rs12145833 | rs59744560 | rs9568856 |
---|---|---|---|---|---|
Age | 0.902 | 0.169 | 0.960 | 0.545 | 0.078 |
Height (m) | 0.736 | 0.090 | 0.412 | 0.939 | 0.815 |
Weight (kg) | 0.268 | 0.826 | 0.135 | 0.302 | 0.110 |
BMI (kg/m2) | 0.123 | 0.324 | 0.079 | 0.157 | 0.148 |
Waist circumference (cm) | 0.271 | 0.633 | 0.257 | 0.414 | 0.450 |
Hip circumference (cm) | 0.309 | 0.546 | 0.322 | 0.698 | 0.285 |
Systolic pressure (mmHg) | 0.076 | 0.022 | 0.409 | 0.777 | 0.892 |
Diastolic pressure (mmHg) | 0.492 | 0.122 | 0.638 | 0.685 | 0.454 |
Glucose (mmol/L) | 0.641 | 0.020 | 0.736 | 0.135 | 0.309 |
Urea (mmol/L) | 0.155 | 0.185 | 0.868 | 0.572 | 0.814 |
Creatinine (µmol/L) | 0.629 | 0.199 | 0.620 | 0.824 | 0.436 |
Cystatin C (mg/L) | 0.387 | 0.923 | 0.693 | 0.685 | 0.839 |
Uric acid (µmol/L) | 0.118 | 0.520 | 0.537 | 0.458 | 0.761 |
Sodium (mmol/L) | 0.199 | 0.155 | 0.888 | 0.442 | 0.501 |
Potassium (mmol/L) | 0.856 | 0.730 | 0.833 | 0.786 | 0.473 |
Chlorides (mmol/L) | 0.236 | 0.319 | 0.262 | 0.808 | 0.330 |
Calcium (mmol/L) | 0.319 | 0.664 | 0.945 | 0.122 | 0.978 |
Magnesium (mmol/L) | 0.133 | 0.294 | 0.556 | 0.723 | 0.199 |
Phosphate (mmol/L) | 0.816 | 0.510 | 0.884 | 0.199 | 0.900 |
Cholesterol (mmol/L) | 0.204 | 0.235 | 0.401 | 0.488 | 0.652 |
Triglycerides (mmol/L) | 0.885 | 0.394 | 0.737 | 0.579 | 0.055 |
HDL (mmol/L) | 0.213 | 0.316 | 0.957 | 0.595 | 0.108 |
LDL (mmol/L) | 0.407 | 0.599 | 0.625 | 0.319 | 0.909 |
Homocysteine (µmol/L) | 0.945 | 0.271 | 0.290 | 0.772 | 0.503 |
Lp(a) (µmol/L) | 0.762 | 0.891 | 0.523 | 0.344 | 0.637 |
APOA1 (µmol/L) | 0.056 | 0.899 | 0.984 | 0.317 | 0.369 |
APOB (µmol/L) | 0.672 | 0.400 | 0.675 | 0.943 | 0.889 |
Leukocyte (×109) | 0.446 | 0.857 | 0.715 | 0.037 | 0.854 |
Erythrocyte (×109) | 0.097 | 0.329 | 0.480 | 0.062 | 0.498 |
Haemoglobin (g/L) | 0.694 | 0.056 | 0.772 | 0.691 | 0.964 |
Haematocrit | 0.683 | 0.054 | 0.729 | 0.606 | 0.835 |
MCV (fl) | 0.062 | 0.062 | 0.159 | 0.307 | 0.473 |
MCH (pg) | 0.154 | 0.166 | 0.170 | 0.217 | 0.330 |
MCHC (g/L) | 0.913 | 0.374 | 0.513 | 0.519 | 0.781 |
Platelets (×109) | 0.889 | 0.105 | 0.636 | 0.004 | 0762 |
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Močnik, M.; Zagradišnik, B.; Marčun Varda, N. Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension. Children 2022, 9, 1262. https://doi.org/10.3390/children9081262
Močnik M, Zagradišnik B, Marčun Varda N. Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension. Children. 2022; 9(8):1262. https://doi.org/10.3390/children9081262
Chicago/Turabian StyleMočnik, Mirjam, Boris Zagradišnik, and Nataša Marčun Varda. 2022. "Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension" Children 9, no. 8: 1262. https://doi.org/10.3390/children9081262