[HTML][HTML] Physiological functions and pathogenic potential of uric acid: A review

R El Ridi, H Tallima - Journal of advanced research, 2017 - Elsevier
Uric acid is synthesized mainly in the liver, intestines and the vascular endothelium as the
end product of an exogenous pool of purines, and endogenously from damaged, dying and …

Physiology of hyperuricemia and urate-lowering treatments

CL Benn, P Dua, R Gurrell, P Loudon, A Pike… - Frontiers in …, 2018 - frontiersin.org
Gout is the most common form of inflammatory arthritis and is a multifactorial disease
typically characterized by hyperuricemia and monosodium urate crystal deposition …

Sex differences in genetic architecture in the UK Biobank

E Bernabeu, O Canela-Xandri, K Rawlik, A Talenti… - Nature …, 2021 - nature.com
Males and females present differences in complex traits and in the risk of a wide array of
diseases. Genotype by sex (GxS) interactions are thought to account for some of these …

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

S Wahl, A Drong, B Lehne, M Loh, WR Scott, S Kunze… - Nature, 2017 - nature.com
Approximately 1.5 billion people worldwide are overweight or affected by obesity, and are at
risk of develo** type 2 diabetes, cardiovascular disease and related metabolic and …

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

A Tin, J Marten, VL Halperin Kuhns, Y Li, M Wuttke… - Nature …, 2019 - nature.com
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …

Impact of comorbidities on gout and hyperuricaemia: an update on prevalence and treatment options

T Bardin, P Richette - BMC medicine, 2017 - Springer
Gout, the most prevalent inflammatory arthritis worldwide, is associated with cardiovascular
and renal diseases, and is an independent predictor of premature death. The frequencies of …

An update on the genetics of hyperuricaemia and gout

TJ Major, N Dalbeth, EA Stahl… - Nature Reviews …, 2018 - nature.com
A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to
the formation of monosodium urate crystals. The clinical features of gout result from an …

The SLC2 (GLUT) family of membrane transporters

M Mueckler, B Thorens - Molecular aspects of medicine, 2013 - Elsevier
GLUT proteins are encoded by the SLC2 genes and are members of the major facilitator
superfamily of membrane transporters. Fourteen GLUT proteins are expressed in the human …

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

A Köttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek… - Nature …, 2013 - nature.com
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory
arthritis. By combining data from> 140,000 individuals of European ancestry within the …

Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants

BL Pierce, H Ahsan… - International journal of …, 2011 - academic.oup.com
Abstract Background Mendelian Randomization (MR) studies assess the causality of an
exposure–disease association using genetic determinants [ie instrumental variables (IVs)] of …