rs116498385 - GRPEL2P1 - LINC00440

Magnitude 2.2 · 1 study on file

Reported associations

• Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. - Journal of the American Society of Nephrology : JASN (2022) · Joseph CB, Mariniello M, Yoshifuji A, Schiano G, Lake J, Marten J, Richmond A, Huffman JE, Campbell A, Harris SE, Troyanov S, Cocca M, Robino A, Thériault S, Eckardt KU, Wuttke M, Cheng Y, Corre T, Kolcic I, Black C, Bruat V, Concas MP, Sala C, Aeschbacher S, Schaefer F, Bergmann S, Campbell H, Olden M, Polasek O, Porteous DJ, Deary IJ, Madore F, Awadalla P, Girotto G, Ulivi S, Conen D, Wuehl E, Olinger E, Wilson JF, Bochud M, Köttgen A, Hayward C, Devuyst O · PubMed 35228297

  Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown. We conducted a meta-analysis of genome-wide association studies for raw (uUMOD) and indexed to creatinine (uUCR) urinary levels of uromodulin in 29,315 individuals of European ancestry from 13 cohorts. We tested the distribution of candidate genes in kidney segments and investigated the effects of keratin-40 (KRT40) on uromodulin processing. Two genome-wide significant signals were identified for uUMOD: a novel locus ( 1.24E-08) over the gene coding for KRT40, a type 1 keratin expressed in the kidney, and the locus ( 2.17E-88), with two independent sets of single nucleotide polymorphisms

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