Related Experiment Video
Updated: Jun 11, 2026
08:55
Expression, Solubilization, and Purification of Eukaryotic Borate Transporters
Published on: March 7, 2019
A 'complexity' of urate transporters
Alan F Wright1, Igor Rudan, Nicholas D Hastie
1MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, UK. alan.wright@hgu.mrc.ac.uk
Kidney International
|July 9, 2010
Summary
Genetic variations in the SLC2A9 gene significantly impact uric acid levels, increasing the risk of gout. This gene, encoding the GLUT9 transporter, plays a key role in uric acid transport and metabolism.
Area of Science:
- Genetics
- Metabolic Diseases
- Molecular Biology
Background:
- Genetic variations in the SLC2A9 gene are identified as a novel risk factor for low fractional excretion of uric acid, hyperuricemia, and gout.
- The gene product, GLUT9, functions as a high-capacity uric acid transporter expressed in vital organs like the kidney and liver.
Purpose of the Study:
- To investigate the role of genetic variations in SLC2A9 and other membrane transporters in influencing serum urate concentrations.
- To explore the utility of Mendelian randomization analyses in understanding the causal relationship between urate and metabolic diseases.
Main Methods:
- Genome-wide association studies (GWAS) and meta-analyses involving 28,141 individuals.
- Identification of nine additional genetic loci influencing serum urate concentrations, including six other membrane transporters.
- Application of Mendelian randomization analyses to assess urate's role in cardiovascular and metabolic diseases.
Main Results:
- Genetic variants in SLC2A9 are a major determinant of serum urate levels, accounting for a significant portion of the genetic variance.
- Nine additional loci, including six other membrane transporters, were implicated in modulating serum urate concentrations.
- Mendelian randomization analyses utilizing these variants offer a robust method to investigate urate's causal impact on diseases.
Conclusions:
- Genetic variations in membrane transporters, particularly SLC2A9, play a complex role in uric acid metabolism and transport.
- Weak genetic variants identified through GWAS can reveal novel pathways and potential therapeutic targets for managing urate levels.
- These findings highlight a complex interplay of transporters involved in urate homeostasis and offer potential druggable targets for metabolic conditions.
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