| Geno
|
Mag
|
Summary
|
| (A;A)
|
1
|
common but slightly higher risk for hypertension
|
| (A;G)
|
1.1
|
slightly lower risk for hypertension
|
| (G;G)
|
1.2
|
~15-20% lower risk for hypertension or cardiovascular events
|
rs13333226 is a SNP in the 5' region of uromodulin UMOD gene.
A large GWAS study ultimately totaling over 20,000 cases and almost as many controls concluded that, compared to the far more common allele, the rarer rs13333226(G) allele is associated with a (slightly) lower risk of hypertension (odds ratio 0.87, CI: 0.84-0.91) as well as a 7.7% reduction per allele for risk of cardiovascular events after adjusting for age, sex, BMI, and smoking status (hazard ratio?0.923, CI: 0.860-0.991; p?=?0.027).
[PMID 21082022
]
[PMID 19465746] Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
[PMID 21738052] Uromodulin gene variant is associated with type 2 diabetic nephropathy.
High Blood Pressure (Hypertension)
Kidney Disease
]
