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高尿酸血症和痛风的易感基因。

Susceptibility genes of hyperuricemia and gout.

机构信息

Laboratory Medicine Center, Lanzhou University Second Hospital, Lanzhou, 730030, China.

出版信息

Hereditas. 2022 Aug 4;159(1):30. doi: 10.1186/s41065-022-00243-y.

DOI:10.1186/s41065-022-00243-y
PMID:35922835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9351246/
Abstract

Gout is a chronic metabolic disease that seriously affects human health. It is also a major challenge facing the world, which has brought a heavy burden to patients and society. Hyperuricemia (HUA) is the most important risk factor for gout. In recent years, with the improvement of living standards and the change of dietary habits, the incidence of gout in the world has increased dramatically, and gradually tends to be younger. An increasing number of studies have shown that gene mutations may play an important role in the development of HUA and gout. Therefore, we reviewed the existing literature and summarized the susceptibility genes and research status of HUA and gout, in order to provide reference for the early diagnosis, individualized treatment and the development of new targeted drugs of HUA and gout.

摘要

痛风是一种慢性代谢性疾病,严重影响人类健康,也是全球面临的重大挑战之一,给患者和社会带来了沉重的负担。高尿酸血症(HUA)是痛风最重要的危险因素。近年来,随着生活水平的提高和饮食习惯的改变,全球痛风的发病率显著增高,并逐渐趋于年轻化。越来越多的研究表明,基因突变可能在 HUA 和痛风的发生发展中起重要作用。因此,我们复习了目前的文献,总结了 HUA 和痛风的易感基因及其研究现状,以期为 HUA 和痛风的早期诊断、个体化治疗及新型靶向药物的研发提供参考。

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Susceptibility genes of hyperuricemia and gout.高尿酸血症和痛风的易感基因。
Hereditas. 2022 Aug 4;159(1):30. doi: 10.1186/s41065-022-00243-y.
2
Common variants in the gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.该基因中的常见变异与中国汉族人群的血清尿酸水平、高尿酸血症及痛风相关。
Hereditas. 2019 Jan 16;156:4. doi: 10.1186/s41065-018-0078-0. eCollection 2019.
3
[Epidemiological study on hyperuricemia and gout in Foshan areas, Guangdong province].[广东省佛山市地区高尿酸血症与痛风的流行病学研究]
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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.鉴定与儿童期起病的家族性高尿酸血症和早发性痛风相关的 ABCG2 尿酸转运体中的两个功能失调变体。
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Nutrients. 2025 Jun 24;17(13):2097. doi: 10.3390/nu17132097.
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Molecular basis of the urate transporter URAT1 inhibition by gout drugs.痛风药物对尿酸转运体URAT1的抑制作用的分子基础。
Nat Commun. 2025 Jun 4;16(1):5178. doi: 10.1038/s41467-025-60480-3.
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Identification of Therapeutic Targets for Hyperuricemia: Systematic Genome-Wide Mendelian Randomization and Colocalization Analysis.

本文引用的文献

1
Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.八例中国患者莱施-奈恩病的分子和表型谱描述
Front Genet. 2022 Apr 26;13:868942. doi: 10.3389/fgene.2022.868942. eCollection 2022.
2
OAT10/SLC22A13 Acts as a Renal Urate Re-Absorber: Clinico-Genetic and Functional Analyses With Pharmacological Impacts.OAT10/SLC22A13作为肾脏尿酸重吸收体:临床遗传学及药理学影响的功能分析
Front Pharmacol. 2022 Apr 6;13:842717. doi: 10.3389/fphar.2022.842717. eCollection 2022.
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E4BP4 Regulates Hepatic Solute Carrier Family 2 Member 9 and Uric Acid Disposition in Mice.
高尿酸血症治疗靶点的鉴定:全基因组孟德尔随机化与共定位系统分析
Biomedicines. 2025 Apr 23;13(5):1022. doi: 10.3390/biomedicines13051022.
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Effects of hydroxypropyl starch on intestinal health and transcriptome of geese.羟丙基淀粉对鹅肠道健康及转录组的影响
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Hyperuricaemia and gout in the Pacific.太平洋地区的高尿酸血症与痛风
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Gout and Hyperuricemia: A Narrative Review of Their Comorbidities and Clinical Implications.痛风与高尿酸血症:关于其合并症及临床意义的叙述性综述
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Molecular basis of the urate transporter URAT1 inhibition by gout drugs.痛风药物对尿酸转运蛋白URAT1的抑制作用的分子基础。
bioRxiv. 2024 Sep 12:2024.09.11.612563. doi: 10.1101/2024.09.11.612563.
8
Projected Health and Economic Burden of Comorbid Gout and Chronic Kidney Disease in a Virtual US Population: A Microsimulation Study.美国虚拟人群中痛风合并慢性肾脏病的预期健康和经济负担:一项微观模拟研究
Rheumatol Ther. 2024 Aug;11(4):913-926. doi: 10.1007/s40744-024-00681-2. Epub 2024 Jun 5.
9
Effectiveness and safety of different doses of febuxostat compared with allopurinol in the treatment of hyperuricemia: a meta-analysis of randomized controlled trials.不同剂量非布司他与别嘌醇治疗高尿酸血症的疗效和安全性:一项随机对照试验的荟萃分析。
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Case report: Late middle-aged features of variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.病例报告:变异型肯尼-卡菲二型综合征的中老年特征——长期随访中具有提示性症状。
Front Endocrinol (Lausanne). 2023 Jan 4;13:1073173. doi: 10.3389/fendo.2022.1073173. eCollection 2022.
E4BP4调节小鼠肝脏溶质载体家族2成员9及尿酸代谢
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Genetic Association Between Variants and Susceptibility to Hyperuricemia: A Meta-Analysis.遗传变异与高尿酸血症易感性的关联:荟萃分析。
Genet Test Mol Biomarkers. 2022 Feb;26(2):81-95. doi: 10.1089/gtmb.2021.0175.
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Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations.在日本人群中,基于临床定义的痛风的肾过载类型和肾排泄不足类型的全基因组荟萃分析。
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Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.在莱施-尼汉病和癌症中,β-淀粉样前体蛋白(APP)与次黄嘌呤-鸟嘌呤磷酸核糖转移酶(HGprt)之间潜在的分子联系。
AIMS Neurosci. 2021 Oct 28;8(4):548-557. doi: 10.3934/Neuroscience.2021030. eCollection 2021.
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The genetic basis of urate control and gout: Insights into molecular pathogenesis from follow-up study of genome-wide association study loci.尿酸控制和痛风的遗传基础:全基因组关联研究位点随访研究对分子发病机制的深入了解。
Best Pract Res Clin Rheumatol. 2021 Dec;35(4):101721. doi: 10.1016/j.berh.2021.101721. Epub 2021 Nov 1.