A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression

S Ketharnathan, M Leask, J Boocock… - Human molecular …, 2018 - academic.oup.com
The precise molecular mechanisms by which urate-associated genetic variants affect urate
levels are unknown. Here, we tested for functional linkage of the maximally associated …

[HTML][HTML] Trends in the contribution of genetic susceptibility loci to hyperuricemia and gout and associated novel mechanisms

J Zhao, S Guo, SJ Schrodi, D He - Frontiers in Cell and …, 2022 - frontiersin.org
Hyperuricemia and gout are complex diseases mediated by genetic, epigenetic, and
environmental exposure interactions. The incidence and medical burden of gout, an …

[HTML][HTML] Integrative genome-wide association studies of eQTL and GWAS data for gout disease susceptibility

MG Lee, TC Hsu, SC Chen, YC Lee, PH Kuo… - Scientific Reports, 2019 - nature.com
There is a paucity of genome-wide association study on Han Chinese gout patients. We
performed a genome-wide association meta-analysis on two Taiwanese cohorts consisting …

[HTML][HTML] Probable potential role of urate transporter genes in the development of metabolic disorders

S Vadakedath, V Kandi - Cureus, 2018 - ncbi.nlm.nih.gov
Metabolic disorders are a group of interrelated conditions which increases the risk of
developing heart diseases, stroke, and diabetes. These usually occur as a consequence of …

Genetic advances in gout: potential applications in clinical practice

V Tai, TR Merriman, N Dalbeth - Current Opinion in Rheumatology, 2019 - journals.lww.com
Advances in gout genetics have provided important molecular insights into disease
pathogenesis, better characterized the pharmacogenetics of allopurinol, and raised the …

[HTML][HTML] Multiple membrane transporters and some immune regulatory genes are major genetic factors to gout

W Zhu, Y Deng, X Zhou - The Open Rheumatology Journal, 2018 - ncbi.nlm.nih.gov
Gout is a common form of inflammatory arthritis caused by hyperuricemia and the deposition
of Monosodium Urate (MSU) crystals. It is also considered as a complex disorder in which …

尿酸排泄及其相关转运蛋白在高尿酸血症中的研究进展

辛家东, 周嘉宝, 吴志远, 张栩铭, 高建东 - 中国全科医学, 2023 - chinagp.net
高尿酸血症(HUA) 是人体内尿酸生成和排泄稳态失调从而导致血清尿酸水平升高超过参考范围
的一类异质性疾病. 既往研究发现3 个常见尿酸转运蛋白基因(ABCG2, SLC2A9 和SLC22A12) …

[HTML][HTML] Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study

X Zhang, BB Mass, V Talevi, R Hou, KE North… - Nutrients, 2022 - mdpi.com
Studies have shown that genetic variations can influence metabolic response to nutrient
intake, and that diets rich in fructose contribute to hyperuricemia. In this pilot study, our aim …

[HTML][HTML] Single-nucleotide polymorphisms link gout with health-related lifestyle factors in Korean cohorts

HK Jeon, HY Yoo - Plos one, 2023 - journals.plos.org
Gout—a very painful inflammatory arthritis caused by the deposition of monosodium urate
crystals in the joints—is influenced by several factors. We identified the association of single …

[HTML][HTML] Signaling pathways in uric acid homeostasis and gout: From pathogenesis to therapeutic interventions

S Yang, H Liu, XM Fang, F Yan, Y Zhang - International …, 2024 - Elsevier
Uric acid is a product of purine degradation, and uric acid may have multiple physiologic
roles, including the beneficial effects as an antioxidant and neuroprotector, maintenance of …