rs17249754, ATP2B1

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes. 31513605 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. 31242870 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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
Hypertensive disease
CUI: C0020538
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