rs1126742

badMag 3.5

This is a protein-altering variant in the CYP4A11 gene.

Key Literature Trait Associations

Hypertension

The CYP4A11 F434S variant (rs1126742 G allele) reduces 20-HETE synthesis by more than half. 20-HETE is a potent regulator of renal sodium excretion and vascular tone. Carriers of the G allele have modestly increased risk of essential hypertension (meta-analytic OR ~1.15 additive, ~1.52 recessive across 8 studies). The original discovery in a Tennessee cohort reported a stronger effect (OR 2.31), but this attenuated in larger replication samples.

“The role of cytochrome P450 gene rs1126742 polymorphism and risk of hypertension: a systematic review and meta-analysis”

Allele G

OR —

p —

N 15,284

Meta-analysis

multi-ancestry

Yan HC et al. “Association between the CYP4A11 T8590C variant and essential hypertension: new data from Han Chinese and a meta-analysis.” Plos One 8(11):e80072 (2013)

Allele G

OR 1.15

p 2.0e-2

Meta-analysis

“Candidate Gene Polymorphisms Influence the Susceptibility to Salt Sensitivity of Blood Pressure in a Han Chinese Population”

Allele G

OR —

p 1.5e-3

N 2,057

Preliminary work

East Asian

“Associations of CYP4A11 gene-gene and gene-smoking interactions with essential hypertension in the male eastern Chinese Han population”

Allele G

OR 1.56

p —

N 1,648

Preliminary work

East Asian

“CYP4A11 gene T8590C polymorphism is associated with essential hypertension in the male western Chinese Han population”

Allele G

OR 1.90

p 4.1e-2

N 1,525

Preliminary work

East Asian

“A haplotype of the CYP4A11 gene associated with essential hypertension in Japanese men”

Allele G

OR —

p 7.0e-3

N 511

Preliminary work

East Asian

Yu K et al. “Genetic role of CYP4A11 polymorphisms in the risk of developing cardiovascular and cerebrovascular diseases.” Annals of Human Genetics (2018)

Allele G

OR —

p —

Candidate gene study

multi-ancestry

▶

GWAS Catalog Trait Associations (20)

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

▶

Research that mentions this SNP (1)

▶

Genome‐wide interaction study of single‐nucleotide polymorphisms and alcohol consumption on blood pressure: The Ansan and Ansung study of the Korean Genome and Epidemiology Study (KoGES)

ReviewYoungjun Kim et al.(2020)· Genetic Epidemiology

This is a comprehensive review of gene-environment interactions in hypertension, summarizing recent research on how genetic variants interact with lifestyle factors (diet, alcohol, smoking, obesity, physical activity) to influence blood pressure regulation. The paper discusses key genetic variants including GNB3-C825T, BCL11B-rs8022678, NOS3-rs1799983, CYP4A11 variants, and FTO-rs9930333, and recommends lifestyle modifications and selective genetic testing for hypertension management in community healthcare settings.

Traits studied:Blood pressureDiastolic pressureHypertensionMetabolic syndromeSalt sensitivitySystolic pressure

rs1126742

Key Literature Trait Associations

Hypertension

GWAS Catalog Trait Associations (20)

Research that mentions this SNP (1)

Community Wiki

Comments