rs1126742
badMag 3.5This 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.
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
Allele G
OR —
p 1.5e-3
N 2,057
Preliminary work
East Asian
Allele G
OR 1.56
p —
N 1,648
Preliminary work
East Asian
Allele G
OR 1.90
p 4.1e-2
N 1,525
Preliminary work
East Asian
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.
GWAS Catalog Trait Associations (20)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
10-undecenoate 11:1n1 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.38
p 3.0e-155
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.42
p 3.0e-86
N 8,809
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.47
p 3.0e-97
N 8,243
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele A
OR 0.34
p 8.0e-64
N 4,960
Large GWAS
European
X-14939 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.28
p 7.0e-83
N 14,296
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.29
p 1.0e-39
N 8,250
Large GWAS
European
X-24949 measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.34
p 3.0e-47
N 7,174
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.26
p 5.0e-21
N 3,169
Large GWAS
European
X-24309 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.19
p 8.0e-38
N 14,296
Large GWAS
European
undecenoylcarnitine (C11:1) measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele G
OR 0.26
p 7.0e-36
N 8,809
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.26
p 5.0e-32
N 8,253
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.20
p 3.0e-23
N 4,956
Large GWAS
European
metabolite measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.18
p 3.0e-34
N 14,296
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele A
OR 0.31
p 2.0e-17
N 4,887
Large GWAS
European
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele A
OR 0.27
p 3.0e-17
N 2,466
Large GWAS
multi-ancestry
X-21607 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.18
p 1.0e-33
N 14,296
Large GWAS
European
dodecanedioate measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.17
p 4.0e-31
N 14,296
Large GWAS
European
X-18899 measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.17
p 4.0e-31
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.21
p 6.0e-22
N 8,809
Large GWAS
European
level of tetradecanedioate(2-) in blood
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.23
p 1.0e-30
N 8,679
Large GWAS
multi-ancestry
▶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
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
Gene information from NCBI Gene. Variant classifications from ClinVar.
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