Table 1.
RAS Component Gene |
Chromosomal Location | Associated Disease/Phenotype |
Mutations, Polymorphisms and rs Number |
Allele/Genotype Frequencies in Populations and Ethnicities |
References |
---|---|---|---|---|---|
ACE1 | 17q23.3 | CVD Kidney disease Autoimmune diseases Hypertension Hypercoagulability ARDS Type 2 diabetes Risk of obesity |
Insertion/Deletion (I/D) of a 287-bp Alu repeat in intron 16 (rs1799752) |
Lebanese I: 0.27, D: 0.73 |
[77] |
Indians I: 0.55, D: 0.45 Whites I: 0.5, D: 0.5 African Americans I: 0.41, D: 0.59 |
[76] | ||||
British I: 0.31, D: 0.69 (ARDS) I: 0.49, D: 0.51 (healthy population) |
[73] |
||||
Chinese I: 0.705, D: 0.295 |
[75] | ||||
Italians I: 0.342, D: 0.658 |
[56] | ||||
Italians I: 0.27, D: 0.73 |
[35] | ||||
Germans I/I: 0.27, I/D: 0.43, D/D: 30 |
[48] | ||||
Indians I: 0.575, D: 0.425 |
[78] | ||||
ACE2 | Xp22.2 | Cardiovascular risk, Retinopathy in type-2 Diabetes Mellitus, Hypertension and Hypertensive left ventricular hypertrophy |
c.*1860-449C > T SNP (rs2074192) |
Italians C: 0.56, T: 0.44 |
[35] |
c.*264+788T > C (rs2106809) |
Italians A: 0.77, G: 0.33 |
||||
c.2115-268A > T SNP (rs233574) |
Africans C: 0.92, T: 0.08 Europeans C: 0.67, T: 0.33 East Asians C: 0.996, T: 0.004 South Asians C: 0.814, T: 0.814 Americans C: 0.767, T: 0.233 |
[79] | |||
c.1402A > G p.Ile468Val SNP (rs191860450) |
East Asians with an allele frequency (AF) = 0.011 | [16] | |||
c.1022A > G p.Lys341Arg SNP (rs138390800) |
Africans AF = 4 × 10−3 |
||||
c.2191C > T p.Leu731Phe SNP (rs147311723) |
Africans AF = 0.014 |
||||
c.631G > A p.Gly211Arg SNP (rs148771870) |
Europeans AF = 2 × 10−3 South Asians AF = 1.9 × 10−3 |
||||
c.2089A > G p.Arg697Gly SNP (rs751603885) |
South Asians AF = 2.4 × 10−3 |
||||
c.2074T > C p.Ser692Pro SNP (rs14903946) |
Africans AF = 6 × 10−3 |
||||
c.55T > C p.Ser19Pro SNP (rs73635825) |
Africans AF = 3 × 10−3 |
||||
AGT | 1q42.2 1q42–43 |
Hypertension Heart failure Myocardial infraction |
c.704T > C p.Met235Thr (aka Met268Thr) SNP (rs699) |
Tunisians M/M: 0.291, M/T: 0.291 T/T:0.419 |
[80] |
Vietnamese T: 0.92, M: 0.08 |
[81] | ||||
Iranians T: 0.39, M: 0.61 |
[82] | ||||
Indians M: 0.52, D: 0.48 |
[78] | ||||
New Zealanders T/T: 0.19, T/M: 0.47, M/M: 0.34 |
[83] | ||||
c.521C > T p.Thr174Met SNP (rs4762) |
New Zealanders T/T: 0.7, T/M: 0.2, M/M: 0.1 |
[83] | |||
AT1R | 3q21–q25 | Systolic blood pressure Left ventricular hypertrophy Hypertension Aortic stiffness Myocardial infarction Carotid intimal-medial thickening, CAD and stroke, Overweight, Diabetes |
c.1166A > C in the 3′ UTR SNP (rs5186) |
Egyptians C:0.24, A:0.76 (control group) C:0.34, G:0.66 (premature CAD patients) |
[84] |
Jordanians Higher frequency of A allele |
[85] | ||||
Iranians Higher frequency of A allele |
[86] | ||||
AT2R | Xq23–26 | Metabolic syndrome | −1332A > G SNP (rs1403543) |
Egyptians A:0.55, G:0.45 (control group) A:0.41, G:0.50 (premature CAD patients) |
[84] |