Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2106809
rs2106809
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.040 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs2106809
rs2106809
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.040 GeneticVariation BEFREE Participants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. 30342552

2018

dbSNP: rs2106809
rs2106809
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.040 GeneticVariation BEFREE These results suggest that the ACE2 G8790A and rs2106809 polymorphisms may be associated with EH risk. 25237167

2015

dbSNP: rs2106809
rs2106809
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.040 GeneticVariation BEFREE Among females, ACE I/D and ACE2 rs2106809 polymorphisms, while among males, ACE2 rs2106809 polymorphism and alcohol consumption are associated with essential hypertension in the study population. 24112034

2014

dbSNP: rs4646155
rs4646155
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155</span> (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs4646155
rs4646155
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Participants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. 30342552

2018

dbSNP: rs4646155
rs4646155
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Specifically, it was the first time to report that rs4646155 was significantly associated with EH in females. 30335025

2018

dbSNP: rs879922
rs879922
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs879922
rs879922
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Participants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. 30342552

2018

dbSNP: rs879922
rs879922
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.030 GeneticVariation BEFREE Five SNPs (rs1514283, rs4646155, rs4646176, rs2285666, and rs879922) in ACE2 gene were determined to significantly associate with EH in female participants, while no SNP locus was linked to male group. 30335025

2018

dbSNP: rs2074192
rs2074192
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53</span>), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs2074192
rs2074192
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Participants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. 30342552

2018

dbSNP: rs2106809
rs2106809
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 GeneticVariation BEFREE The circulating ACE2 and Ang-(1-7) levels were related to neither rs4646155 nor rs879922 in female or male patients.In conclusion, the rs2106809 polymorphism of the ACE2 gene may be a determinant of the circulating Ang-(1-7) level in female patients with hypertension, suggesting a genetic association between circulating Ang-(1-7) levels and ACE2 gene polymorphisms in patients with hypertension. 27310975

2016

dbSNP: rs2106809
rs2106809
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 GeneticVariation BEFREE ACE2 rs2106809 T allele was found to confer a 1.6-fold risk for hypertension in women (95% confidence interval (CI), 1.132.06), whereas when combined with the effect of the ACE DD genotype, the risk was 2.34-fold (95% CI, 1.754.85) in two independent samples. 17473847

2007

dbSNP: rs2285666
rs2285666
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 GeneticVariation BEFREE Meanwhile,ACE2 SNPs also exhibited association with dyslipidemia but exhibited obvious heterogeneity. rs1978124 (TT + CT, P = 0.009), rs2106809 (TT, P = 0.045), rs233575 (CC + CT, P = 0.018), rs4646188 (CC, P = 0.011) and rs879922 (CC + CG, P = 0.003) were association with increased LDL-C (≥1.8 mmol/L). rs2106809 (CC + CT, P < 0.001), rs2285666(TT + CT, P = 0.017), rs4646142(CC + CG, P = 0.044), rs4646155(TT + CT, P < 0.001) and rs4646188(TT + CT, P = 0.033) were association with decreased HDL-C (< 1.0 mmol/L). rs2074192 (TT + CT, P = 0.012), rs4240157 (CC + CT, P = 0.027), rs4646156 (AA+AT, P = 0.007), rs4646188 (TT + CT, P = 0.005), rs4830542 (CC + CT, P = 0.047) and rs879922 (CC + CG, P = 0.001) were association with increased TC (≥5.2 mmol/L). rs2106809 (P = 0.034) and rs4646188 (P = 0.013) were associated with hypertriglyceridemia. 30342552

2018

dbSNP: rs2285666
rs2285666
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 GeneticVariation BEFREE The distributions of the AT1R (rs5186) and ACE2 (rs2285666) genotypes and alleles did not differ between T2D patients with or without dyslipidemia and the controls. 21670585

2012

dbSNP: rs4240157
rs4240157
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240</span>157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs4240157
rs4240157
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Participants carrying T allele (TT + CT) of rs2074192 (P = 0.006), rs4646155 (P = 0.030) and rs4646188 (P < 0.001), C allele (CT + CT or CC + CG) of rs4240157 (P = 0.012), rs4830542 (P = 0.020) and rs879922 (P < 0.001) and TT genotype of rs2106809 (P = 0.012) were associated with EH. 30342552

2018

dbSNP: rs4646188
rs4646188
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019

dbSNP: rs4646188
rs4646188
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 GeneticVariation BEFREE Meanwhile,ACE2 SNPs also exhibited association with dyslipidemia but exhibited obvious heterogeneity. rs1978124 (TT + CT, P = 0.009), rs2106809 (TT, P = 0.045), rs233575 (CC + CT, P = 0.018), rs4646188 (CC, P = 0.011) and rs879922 (CC + CG, P = 0.003) were association with increased LDL-C (≥1.8 mmol/L). rs2106809 (CC + CT, P < 0.001), rs2285666(TT + CT, P = 0.017), rs4646142(CC + CG, P = 0.044), rs4646155(TT + CT, P < 0.001) and rs4646188(TT + CT, P = 0.033) were association with decreased HDL-C (< 1.0 mmol/L). rs2074192 (TT + CT, P = 0.012), rs4240157 (CC + CT, P = 0.027), rs4646156 (AA+AT, P = 0.007), rs4646188 (TT + CT, P = 0.005), rs4830542 (CC + CT, P = 0.047) and rs879922 (CC + CG, P = 0.001) were association with increased TC (≥5.2 mmol/L). rs2106809 (P = 0.034) and rs4646188 (P = 0.013) were associated with hypertriglyceridemia. 30342552

2018

dbSNP: rs4646188
rs4646188
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE The ACE2 rs4646188 variant may be a potential and optimal genetic susceptibility marker for EH, dyslipidemia and its related ischemic stroke. 30342552

2018

dbSNP: rs4646188
rs4646188
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 GeneticVariation BEFREE Secondly, SNP rs4646188 was not correlated with any type of dyslipidemia (TRIG, HDL-C, LDL-C or CHOL), and the other 7 diabetic risk related loci were at least correlated with one type of dyslipidemia (all P < 0.05). 30227878

2018

dbSNP: rs4646188
rs4646188
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE ACE2 SNP rs1978124, rs2048683, rs2074192, rs233575, rs4240157, rs4646156, rs4646188 and rs879922 were associated with T2D (all P < 0.05). 30227878

2018

dbSNP: rs4646188
rs4646188
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Variants in ACE2 (rs1978124, rs2074192, rs4240157, rs4646156, rs4646188) were examined in 503 Caucasian subjects with type 2 diabetes. 21993363

2012

dbSNP: rs4830542
rs4830542
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation BEFREE Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17-2.53), rs2106809 (TT, OR = 1.71, 95% CI: 1.13-2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17-3.41), rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06-3.54), rs4646188 (TT+CT, OR = 3.25, 95% CI: 1.95-5.41), rs4830542</span> (CC+CT, OR = 1.88, 95% CI: 1.10-3.23), and rs879922 (CC+CG, OR = 4.86, 95% CI: 2.74-8.64) were associated with EH. 30542083

2019