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Research progress in the genetics of hyperuricaemia and gout.
Yi Chuan. 2016 04; 38(4):300-13.YC

Abstract

Gout is one of the most common inflammatory arthritis caused by hyperuricaemia, which is affected by both genetic factors and environmental factors. Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout. In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their overexpression may increase the reabsorption of uric acid. In contrast, loss-of-function mutations in ABCG2, SLC17A1, and SLC17A3 cause urate underexcretion of renal and intestinal. These variations leading to blood uric acid excretion disorder (excess reabsorption and underexcretion) are the main genetic factors affecting hyperuicemia and gout. Moreover, to some degree, inhibins-activins growth factor system, transcription factors, cytoskeleton and gene-environment interaction can also affect the level of blood uric acid. In addition, two risk genes, RFX3 and KCNQ1, which might impair immune response and lead to functional deficiency of beta cell were recently discovered to influence hyperuiceamia and gout in Han Chinese. This paper systematically reviews genetic studies on hyperuricaemia and gout to improve our understanding of pathogenesis of hyperuricaemia and gout.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Zheng M
National Key Laboratory for Swine Genetics, Breeding and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China.
Ma JW
National Key Laboratory for Swine Genetics, Breeding and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China.

MeSH

AnimalsGene-Environment InteractionGenetic Predisposition to DiseaseGoutHumansHyperuricemia

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

27103454

Citation

Zheng, Min, and Jun-wu Ma. "Research Progress in the Genetics of Hyperuricaemia and Gout." Yi Chuan = Hereditas, vol. 38, no. 4, 2016, pp. 300-13.
Zheng M, Ma JW. Research progress in the genetics of hyperuricaemia and gout. Yi Chuan. 2016;38(4):300-13.
Zheng, M., & Ma, J. W. (2016). Research progress in the genetics of hyperuricaemia and gout. Yi Chuan = Hereditas, 38(4), 300-13. https://doi.org/10.16288/j.yczz.15-385
Zheng M, Ma JW. Research Progress in the Genetics of Hyperuricaemia and Gout. Yi Chuan. 2016;38(4):300-13. PubMed PMID: 27103454.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Research progress in the genetics of hyperuricaemia and gout. AU - Zheng,Min, AU - Ma,Jun-wu, PY - 2016/4/23/entrez PY - 2016/4/23/pubmed PY - 2016/7/28/medline SP - 300 EP - 13 JF - Yi chuan = Hereditas JO - Yi Chuan VL - 38 IS - 4 N2 - Gout is one of the most common inflammatory arthritis caused by hyperuricaemia, which is affected by both genetic factors and environmental factors. Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout. In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their overexpression may increase the reabsorption of uric acid. In contrast, loss-of-function mutations in ABCG2, SLC17A1, and SLC17A3 cause urate underexcretion of renal and intestinal. These variations leading to blood uric acid excretion disorder (excess reabsorption and underexcretion) are the main genetic factors affecting hyperuicemia and gout. Moreover, to some degree, inhibins-activins growth factor system, transcription factors, cytoskeleton and gene-environment interaction can also affect the level of blood uric acid. In addition, two risk genes, RFX3 and KCNQ1, which might impair immune response and lead to functional deficiency of beta cell were recently discovered to influence hyperuiceamia and gout in Han Chinese. This paper systematically reviews genetic studies on hyperuricaemia and gout to improve our understanding of pathogenesis of hyperuricaemia and gout. SN - 0253-9772 UR - https://www.unboundmedicine.com/medline/citation/27103454/Research_progress_in_the_genetics_of_hyperuricaemia_and_gout_ DB - PRIME DP - Unbound Medicine ER -