rs494144

This variant is located in the NOX4 gene.

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GWAS Catalog Trait Associations (3)

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

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.19

p 5.0e-29

N 1,028,980

Large GWAS

multi-ancestry

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

Allele C

OR 0.20

p 3.0e-16

N 526,001

Large GWAS

European

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele C

OR 0.02

p 5.0e-12

N 349,328

Large GWAS

multi-ancestry

systolic blood pressure

Allele C

OR 0.17

p 4.0e-12

N 1,028,980

Large GWAS

multi-ancestry

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele T

OR 0.01

p 1.0e-8

N 405,540

Large GWAS

European

About NOX4

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

rs494144

GWAS Catalog Trait Associations (3)

pulse pressure measurement

systolic blood pressure

body height

About NOX4

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