Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease

Jing J, Ekici AB, Sitter T, Schaeffnert E, Li Y, Kronenberg F, Koettgen A, Schultheiss UT, Eckardt KU (2018)

Publication Type: Journal article

Publication year: 2018

Journal

Scientific Reports Nature Publishing Group: Open Access Journals - Option B

Book Volume: 8

Journal Issue: 1

DOI: 10.1038/s41598-018-31282-z

Abstract

We evaluated genetics of hyperuricemia and gout, their interaction with kidney function and medication intake in chronic kidney disease (CKD) patients. Genome-wide association studies (GWAS) of urate and gout were performed in 4941 CKD patients in the German Chronic Kidney Disease (GCKD) study. Effect estimates of 26 known urate-associated population-based single nucleotide polymorphisms (SNPs) were examined. Interactions of urate-associated variants with urate-altering medications and clinical characteristics of gout were evaluated. Genome-wide significant associations with serum urate and gout were identified for known loci at SLC2A9 and ABCG2, but not for novel loci. Effects of the 26 known SNPs were of similar magnitude in CKD patients compared to population-based individuals, except for SNPs at ABCG2 that showed greater effects in CKD. Gene-medication interactions were not significant when accounting for multiple testing. Associations with gout in specific joints were significant for SLC2A9 rs12498742 in wrists and midfoot joints. Known genetic variants in SLC2A9 and ABCG2 were associated with urate and gout in a CKD cohort, with effect sizes for ABCG2 significantly greater in CKD compared to the general population. CKD patients are at high risk of gout due to reduced kidney function, diuretics intake and genetic predisposition, making treatment to target challenging.

Authors with CRIS profile

Arif Bülent Ekici Institute of Human Genetics Kai-Uwe Eckardt

Involved external institutions

Albert-Ludwigs-Universität Freiburg DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE) Medizinische Universität Innsbruck AT Austria (AT)

How to cite

APA:

Jing, J., Ekici, A.B., Sitter, T., Schaeffnert, E., Li, Y., Kronenberg, F.,... Eckardt, K.-U. (2018). Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease. Scientific Reports, 8(1). https://dx.doi.org/10.1038/s41598-018-31282-z

MLA:

Jing, Jiaojiao, et al. "Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease." Scientific Reports 8.1 (2018).

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