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. 2020 May 11;130:106680. doi: 10.1016/j.vph.2020.106680

Table 3.

Association between ACE/ ACE2 polymorphisms and human disorders in different populations.

Gene SNP Disease Treatment Case/Control Population Conclusion Reference
ACE ACE I/D Kidney Disease and Hypertension ACE inhibitor ramipril 347 African American II or DD homozygous genotypes and homozygous ACE haplotypes confer faster response to Ramipril. [61]
Hypertension ACEI Enalapril, Lisinopril or Imidapril 190 (70 with cough /120 without cough) Japanese ACE-inhibitor-induced cough was not related to the ACE polymorphism. [62]
ACEI-induced cough ACE inhibitor 144/105 Spanish The rs4646994 I allele is associated with cough (protective effect in males and risk conferring in females). [63]
Erectile dysfunction Sildenafil 113/118 German ACE II homozygous patients are better responder to sildenafil. [64]
hypertrophic cardiomyopathy (HCM) 368 MYPBC3 mutation carriers Dutch ACE-DD was significantly associated with the Wigle score. [65]
Post exercise CK increase 70 Healthy athletes Ashkenazi and non-Ashkenazi Caucasian ACE II/ID was associated with elevated CK activity and higher peak CK levels. [66]
Psoriasis 207/ 182 Austrian Caucasian ACE II genotype was associated with higher risk of early-onset psoriasis. [67]
cardiometabolic disease Chlorthalidone, calcium channel blocker (amlodipine) or ACEi (lisinopril) 9309/ 8164 ACE I/D polymorphism was associated with fasting glucose level during antihypertensive treatment. [68]
Heart failure (HF) 58 Canadian Caucasian AGT (T235)/ACE(D) combined polymorphisms associated with HF predisposition [69]
Pneumonia 1239/2400 Asian
Caucasian
ACE-DD genotype of rs4340 polymorphism is associated with increased risk of pneumonia [70]
Multiple sclerosis (MS) IFN-β1a treatment 391/ 380 Persian Higher prevalence of ACE I allele in MS patients, overrepresentation of the I allele in irresponsive patients to IFN-β. [71]
Healthy persons 80 Caucasians ACE I allele is associated with higher serum level of ACE. [72]
ACE 2 rs1978124 (A1075G) Hypertension Anti-hypertensive (F/M %) 16.05/ 12.59 1009/756 Chinese Han Significant haplotype:
G-T-G-G-A (rs1978124, rs2106809, rs1403543, rs5194, rs56204867)
[73]
Retinopathy T2DM 743 cases DR/DNR
F: 237/171
M:182/153
Chinese rs2074192 (TT) and rs714205 (CC) were higher in DR in female (P < .05). [74]
rs879922 T2 Diabetes 275/272 Uygurs The rs1978124, rs2048683, rs2074192, rs233575, rs4240157, rs4646156, rs4646188 and rs879922 were associated with T2D. The rs879922 is common maker for T2D and related cardiovascular risks. [75]
rs2106809 hypertrophic cardiomyopathy 261/ 609 Chinese Han T allele of rs2106809 and C allele of rs6632677 conferred risk for HCM. [76]
Hypertension ACEI Benazepril/
Imidapril
497 hypertensive patients Chinese Han Lower BP in CC/CT carrier female [77]
246/274 Odisha, India ACE (DD) and rs2106809 (TT) were associated with disease in females. [78]
Atenolol, Hydrochlorothiazide, Captopril, or Nifedipine 3408 untreated hypertensive patients Chinese Han T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors. [79]
AF 265/289 Chinese Han rs2106809 (T) conferred higher risk of AF in males. [80]
rs2074192 Hypertension 647 cases
289 LVH/ 358
Chinese Han ACE2 tag SNPs rs2074192 and rs2106809 as well as major haplotypes CCGC and TCGT are associated with blood pressure and LVH. [81]
rs4646176 Blood pressure High/low-sodium intervention 1906 cases from 637 families Chinese Han rs1514283, rs1514282, and rs4646176 were significantly associated with SBP, DBP, or MAP responses to low and high-sodium intervention. [82]
rs2285666 (G8790A) fatal CAD events 1382 CAD/ 453 fatal CAD Finnish, Swedish, Irish, French rs2285666 (A) significantly associated with the risk of cardiovascular death in female. [83]
hypertension
T2 Diabetes with stroke
7251 cases Han Chinese G8790A is a risk factor for hypertension in Han-Chinese males, and females from other ethnicities. [84]