rs17249754

This is a intron variant variant in the ATP2B1 gene.

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GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele G

OR 0.05

p 7.0e-91

N 1,212,859

Large GWAS

European

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele G

OR 0.87

p 8.0e-73

N 526,001

Large GWAS

European

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)

Allele G

OR —

β 0.048

p 8.0e-23

N 192,763

Large GWAS

multi-ancestry

Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)

Allele G

OR 0.90

p 7.0e-20

N 150,134

Large GWAS

multi-ancestry

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)

Allele G

OR 0.74

p 4.0e-21

N 130,777

Large GWAS

multi-ancestry

Kato N et al. “Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.” Nature Genetics 47(11):1282-1293 (2015)

Allele G

OR 1.07

p 8.0e-20

N 99,994

Large GWAS

multi-ancestry

Kato N et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nature Genetics 43(6):531-8 (2011)

Allele G

OR 1.17

p 8.0e-20

N 19,608

Meta-analysisLarge GWAS

East Asian

Lu X et al. “Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.” Human Molecular Genetics 24(3):865-74 (2015)

Allele G

OR 1.03

p 4.0e-12

N 11,816

Large GWAS

East Asian

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele G

OR 0.42

p 2.0e-49

N 526,001

Large GWAS

European

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele G

OR 0.05

p 2.0e-40

N 153,950

Large GWAS

East Asian

Allele G

OR 0.50

p 1.0e-16

N 150,134

Large GWAS

multi-ancestry

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)

Allele G

OR 0.34

p 1.0e-11

N 130,777

Large GWAS

multi-ancestry

Allele G

OR 0.53

p 9.0e-15

N 99,994

Large GWAS

multi-ancestry

Kato N et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nature Genetics 43(6):531-8 (2011)

Allele G

OR 0.58

p 2.0e-13

N 19,608

Meta-analysisLarge GWAS

East Asian

Lu X et al. “Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.” Human Molecular Genetics 24(3):865-74 (2015)

Allele G

OR 0.52

p 2.0e-10

N 11,816

Large GWAS

East Asian

mean arterial pressure

Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)

Allele G

OR 0.56

p 1.0e-17

N 74,064

Large GWAS

European

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)

Allele G

OR 0.47

p 2.0e-17

N 130,777

Large GWAS

multi-ancestry

Allele G

OR 0.96

p 2.0e-16

N 99,994

Large GWAS

multi-ancestry

Kelly TN et al. “Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.” Hypertension (dallas, Tex. : 1979) 62(5):853-9 (2013)

Allele G

OR 0.80

p 7.0e-15

N 26,600

Meta-analysisLarge GWAS

multi-ancestry

coronary atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.06

p 5.0e-15

N 602,192

Major Consortium StudyLarge GWAS

multi-ancestry

pulse pressure measurement

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)

Allele G

OR 0.41

p 4.0e-14

N 130,777

Large GWAS

multi-ancestry

Allele G

OR 0.41

p 1.0e-10

N 150,134

Large GWAS

multi-ancestry

Allele G

OR 0.62

p 3.0e-9

N 99,994

Large GWAS

multi-ancestry

Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)

Allele G

OR 0.39

p 6.0e-10

N 74,064

Large GWAS

European

hypertension

Jeong H et al. “Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.” Nutrients 12(7) (2020)

Allele A

OR 0.87

p 4.0e-9

N 17,736

Large GWAS

East Asian

Lu X et al. “Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.” Human Molecular Genetics 24(3):865-74 (2015)

Allele A

OR —

p 2.0e-8

N 9,469

Large GWAS

East Asian

About ATP2B1

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

rs17249754

GWAS Catalog Trait Associations (6)

systolic blood pressure

diastolic blood pressure

mean arterial pressure

coronary atherosclerosis

pulse pressure measurement

hypertension

About ATP2B1

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