Normal allele: GG
A break in the UMOD gene as a major predisposition gene for terminal renal failure. The gene directly affects levels of uromodulin, glomerular filtration rate and increased degree of albuminuria.higher risk of Crohn's disease.
Polymorphism rs4293393 is related to topics like this:
Research and publications:
19959715 Uromodulin levels associate with a common UMOD variant and risk for incident CKD.
22773901 SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma.
22947327 UMOD as a susceptibility gene for end-stage renal disease.
23894628 Influence of genetic variation on plasma protein levels in older adults using a multi-analyte panel.
26683887 Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.
26966016 The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.
28753889 The Association of Uromodulin Genotype with Renal Cancer Aggressiveness.
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease.
34824175 ASSOCIATION OF GENETIC POLYMORPHISM AND EXPRESSION OF UMOD GENE AND CHRONIC KIDNEY DISEASE.