Genetics of Hyperuricemia and Gout: Implications for the Present and Future

被引:27
作者
George, Ronald L. [1 ]
Keenan, Robert T. [1 ]
机构
[1] Duke Univ, Sch Med, Div Rheumatol & Immunol, Durham, NC 27710 USA
关键词
Gout; Genetics; Hyperuricemia; Urate transporters; Crystal arthritis; Therapy; Renal urate homeostasis; Management; Medication safety; SERUM URIC-ACID; GENOME-WIDE ASSOCIATION; TOXIC EPIDERMAL NECROLYSIS; URATE TRANSPORTER SLC2A9; STEVENS-JOHNSON-SYNDROME; MOLECULAR-IDENTIFICATION; CARDIOVASCULAR-DISEASE; COMMON POLYMORPHISMS; MUTATIONAL ANALYSIS; RENAL HYPOURICEMIA;
D O I
10.1007/s11926-012-0309-8
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Gout is the most common inflammatory arthropathy and occurs in the setting of elevated serum urate levels. Gout is also known to be associated with multiple comorbidities including cardiovascular disease and the metabolic syndrome. Recent advances in research have increased our understanding and improved our knowledge of the pathophysiology of gout. Genome-wide association studies have permitted the identification of several new and common genetic factors that contribute to hyperuricemia and gout. Most of these are involved with the renal urate transport system (the uric acid transportasome), generally considered the most influential regulator of serum urate homeostasis. Thus far, SCL22A12, SCL2A9, and GLUT9 have been found to have the greatest variation and most influence on serum urate levels. However, genetics are only a part of the explanation in the development of hyperuricemia and gout. As results have been mixed, the role of known urate influential genes in gout's associated comorbidities remains unclear. Regardless, GWAS findings have expanded our understanding of the pathophysiology of hyperuricemia and gout, and will likely play a role in the development of future therapies and treatment of this ancient disease.
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页数:12
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