The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies

MP Leask, TO Crișan, A Ji, H Matsuo… - Nature Reviews …, 2024 - nature.com
The pathogenesis of gout involves a series of steps beginning with hyperuricaemia, followed
by the deposition of monosodium urate crystal in articular structures and culminating in an …

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

N Sinnott-Armstrong, S Naqvi, M Rivas, JK Pritchard - Elife, 2021 - elifesciences.org
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …

Sex differences in urate handling

VL Halperin Kuhns, OM Woodward - International journal of molecular …, 2020 - mdpi.com
Hyperuricemia, or elevated serum urate, causes urate kidney stones and gout and also
increases the incidence of many other conditions including renal disease, cardiovascular …

Why does hyperuricemia not necessarily induce gout?

WZ Zhang - Biomolecules, 2021 - mdpi.com
Hyperuricemia is a risk factor for gout. It has been well observed that a large proportion of
individuals with hyperuricemia have never had a gout flare (s), while some patients with gout …

An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility

L Wang, TJ Balmat, AL Antonia, FJ Constantine… - Genome medicine, 2021 - Springer
Background While genome-wide associations studies (GWAS) have successfully elucidated
the genetic architecture of complex human traits and diseases, understanding mechanisms …

Genome-wide association study of CKD progression

C Robinson-Cohen, JL Triozzi, B Rowan… - Journal of the …, 2023 - journals.lww.com
Background Rapid progression of CKD is associated with poor clinical outcomes. Despite
extensive study of the genetics of cross-sectional eGFR, only a few loci associated with …

Hepatic solute carrier transporters and drug therapy: Regulation of expression and impact of genetic variation

AT Nies, E Schaeffeler, M Schwab - Pharmacology & Therapeutics, 2022 - Elsevier
Organic cation transporters (OCT), organic anion transporting polypeptides (OATP) and
organic anion transporters (OAT) from the solute carrier (SLC) family play an essential role …

Molecular pathophysiology of uric acid homeostasis

C Estiverne, AK Mandal, DB Mount - Seminars in nephrology, 2020 - Elsevier
Uric acid, the end product of purine metabolism, plays a key role in the pathogenesis of gout
and other disease processes. The circulating serum uric acid concentration is governed by …

Advances in our understanding of gout as an auto-inflammatory disease

S Bodofsky, TR Merriman, TJ Thomas… - Seminars in Arthritis and …, 2020 - Elsevier
Gout, the most common inflammatory arthritis, is the result of hyperuricemia and
inflammation induced by monosodium urate (MSU) crystal deposition. However, most …

Genetic and physiological effects of insulin-like growth factor-1 (IGF-1) on human urate homeostasis

AK Mandal, MP Leask, NA Sumpter… - Journal of the …, 2023 - journals.lww.com
Background Metabolic syndrome and hyperinsulinemia are associated with hyperuricemia.
Insulin infusion in healthy volunteers elevates serum urate (SU) by activating net urate …