Genes may put you at the risk of Hyperuricaemia and Gout

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Genes may put you at the risk of Hyperuricaemia and Gout

Gout is the most common inflammatory arthropathy caused by hyperuricaemia due to elevated serum urate levels. Gout is caused by the accumulation of uric acid in the body. Uric acid comes from the breakdown of purines, naturally-occurring chemicals that are found in body tissues and diet. Hyperuricemia and gout are closely related conditions that are prevalent globally.

Gout normally results from the interaction of genetic and environmental risk factors. Recent advances in research have shown that gout attack and hyperuricaemia can be brought with monogenic mutations such as PRPS1 and HPRT1 which lead to abnormal purine anabolism. Many new and common genetic factors have been identified by Genome-wide association studies (GWAS) which may contribute to hyperuricemia and gout.

Most of the genes are involved with loss-of-function mutations in SLC2A9, SLC22A11 and SLC22A12, causing hereditary hypouricaemia. Futher, the overexpression of LC2A9, SLC22A11 and SLC22A12 may increase the reabsorption of uric acid. Thus far, loss-of-function mutations in SLC17A1, SLC17A3 and ABCG2 leads to renal and intestinal under excretion of uric acid.

The excessive reabsorption and underexcretion of uric acid are the main genetic factors that influence serum urate levels, ultimately leading to hyperuricaemia and gout. Additionally, transcription factors, cytoskeleton, inhibins-activins growth factor system and gene-environment interaction can also play a causal role in affecting uric acid level.

Recent research was carried out in Han Chinese population and two more risk genes, RFX3 and KCNQ1, allowing development of hyperuiceamia and gout were identified. These genes might impair the immune response and causes functional deficiency of beta cells. Thus, these findings may provide aid in improving our understanding about pathogenesis of hyperuricaemia and gout.

Yi Chuan.

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