Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. 31242870

2019

dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE The aim of this study was to assess the associations of <i>ATP2B1</i> rs2681472 and <i>CACNB2</i> rs12258967 gene polymorphisms with high blood pressure (HBP) among Lithuanian children and adolescents aged 12-15 years. 29982197

2018

dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. 24642721

2014

dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE The major findings of this study were that four loci--rs10858911, rs2681472, rs17249754 and rs1401982--associated with any or all of four traits: hypertension (P = 0.001-4.6E-05; odds ratio, 0.83-0.87), systolic BP (P = 0.003-0.004), diastolic BP (P = 0.002-0.003) and cf-PWV (P = 0.002-0.004). 23079715

2013

dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE Association of allelic variants in rs2681472 and rs2681492 with hypertension, rs987237 and rs7826222 with waist circumference and rs864745, rs7578597 and rs2943641 with diabetes were not significant. 23036851

2013

dbSNP: rs2681472
rs2681472
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.860 GeneticVariation BEFREE The results suggested that rs2681472 was significantly associated with hypertension risk in East Asians (OR = 1.18, 95% CI 1.10-1.27, p = 0.000). 22229515

2012

dbSNP: rs1799945
rs1799945
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.840 GeneticVariation BEFREE Compared with WT/WT, H63D</span>/WT and H63D</span>/H6</span>3D participants had a 2% to 4% and 4% to 7% absolute increase in hypertension risk at each visit, respectively. 30571559

2019

dbSNP: rs1799945
rs1799945
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.840 GeneticVariation BEFREE According to GWAS studies, iron regulatory protein HFE gene variant H63D (rs1799945) was associated with hypertension, an observation which we were able to confirm also in our TAMRISK cohort. 28151915

2017

dbSNP: rs1799945
rs1799945
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.840 GeneticVariation BEFREE We found that individuals with the mutated form of the H63D polymorphic site (G-allele) had a 1.4-fold risk (P = 0.037, 95% confidence interval [CI] 1.02-1.89) for hypertension at the age of 50 years compared with the CC genotype carriers. 25634189

2015

dbSNP: rs1799945
rs1799945
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.840 GeneticVariation BEFREE Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P < 0·01], individuals with pre-HCT chest radiation (OR = 4·7, P = 0·05), hypertension (OR = 2·9, P = 0·01), and with variants of genes coding for the NAD(P)H-oxidase subunit RAC2 (rs13058338, 7508T→A; OR = 2·8, P < 0·01), HFE (rs1799945, 63C→G; OR = 2·5, P = 0·05) or the doxorubicin efflux transporter ABCC2 (rs8187710, 1515G→A; OR = 4·3, P < 0·01). 23927520

2013

dbSNP: rs13333226
rs13333226
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.810 GeneticVariation BEFREE In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003). 21082022

2010

dbSNP: rs2932538
rs2932538
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.810 GeneticVariation BEFREE SNP rs2932538, a variant in MOV10, was found to be significantly associated with an increased risk of hypertension. 24338417

2013

dbSNP: rs4373814
rs4373814
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.810 GeneticVariation BEFREE However, SNP rs4373814, a variant in CACNB2, showed a relevant association with a decreased risk of hypertension. 24338417

2013

dbSNP: rs6596140
rs6596140
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.810 GeneticVariation BEFREE Using a family-based association test, we found an association with SNPs on chromosome 5q31.1 (rs6596140; P<9 × 10(-8)) for hypertension. 22384028

2012

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. 31242870

2019

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE In conclusion, people with the major allele of ATP2B1 rs17249754 are susceptible to hypertension especially in low intake of Ca and high ratio of Na and K. 28934190

2017

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. 26933664

2016

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE That is, carriers with ATP2B1 rs17249754 homozygote mutant allele may be at higher risk of hypertension, when they consume excessive sodium intake. 27149052

2016

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertension among Chinese children, but failed to replicate the association of CSK rs1378942, MTHFR rs1801133, CYP17A1 rs1004467, STK39 rs3754777 and FGF5 rs16998073 with BP/risk of hypertension. 23759979

2014

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093395 (TREML2), and rs17249754 (ATP2B1), were found to be associated with hypertension mostly in men (P = 4.76 × 10(-14) to 4.46 × 10(-7) in the joint analysis); three SNPs (rs11066280, rs12229654, and rs3782889) remained significant after Bonferroni correction in an independent population. 24142389

2014

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs17249754: P = 0.02; CSK rs1378942: P = 0.02; CYP17A1 rs1004467: P = 0.02; MTHFR rs1801133: P = 0.03; GRS: P = 0.0004). 23591986

2013

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE The major findings of this study were that four loci--rs10858911, rs2681472, rs17249754 and rs1401982--associated with any or all of four traits: hypertension (P = 0.001-4.6E-05; odds ratio, 0.83-0.87), systolic BP (P = 0.003-0.004), diastolic BP (P = 0.002-0.003) and cf-PWV (P = 0.002-0.004). 23079715

2013

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE All studies evaluating the association between rs2681472 (rs17249754 or rs11105378) and hypertension risk in East Asians were included. 22229515

2012

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associated with SBP (rs17249754: β = 1.26, 95% confidence interval (CI) 0.61-1.90, p < 0.001; rs1004467: β = 0.68, 95%CI 0.03-1.32, p = 0.039; genetic risk score: β = 1.54, 95%CI 0.74-2.33, p < 0.001); three polymorphisms and genetic risk score were significantly associated with hypertension (rs17249754: odds ratio (OR) = 1.27, 95%CI 1.08-1.49, p = 0.004; rs1378942: OR = 1.25, 95%CI 1.00-1.57, p = 0.050 (marginally significant); rs16998073: OR = 1.17, 95%CI 1.01-1.37, p = 0.044; genetic risk score: OR = 1.38, 95%CI 1.13-1.68, p = 0.001). 23102448

2012

dbSNP: rs17249754
rs17249754
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.800 GeneticVariation BEFREE An additional hypertension case-control study confirmed that rs17249754 (in ATP2B1) increases hypertension risk in both the KARE and Health2 (meta-analysis, P-value=4.25 x 10(-9)) cohorts. 19960030

2010