An update on the genetics of hyperuricaemia and gout
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 formation of monosodium urate crystals. The clinical features of gout result from an …
Evaluation of the diet wide contribution to serum urate levels: meta-analysis of population based cohorts
TJ Major, RK Topless, N Dalbeth, TR Merriman - bmj, 2018 - bmj.com
Objective To systematically test dietary components for association with serum urate levels
and to evaluate the relative contributions of estimates of diet pattern and inherited genetic …
and to evaluate the relative contributions of estimates of diet pattern and inherited genetic …
[HTML][HTML] Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) …
M Krishnan, TJ Major, RK Topless, O Dewes, L Yu… - Diabetologia, 2018 - Springer
Aims/hypothesis The A (minor) allele of CREBRF rs373863828 has been associated with
increased BMI and reduced risk of type 2 diabetes in the Samoan populations of Samoa and …
increased BMI and reduced risk of type 2 diabetes in the Samoan populations of Samoa and …
Association of gout polygenic risk score with age at disease onset and Tophaceous disease in European and Polynesian men with gout
Objective To determine whether a gout polygenic risk score (PRS) is associated with age at
gout onset and tophaceous disease in European, East Polynesian, and West Polynesian …
gout onset and tophaceous disease in European, East Polynesian, and West Polynesian …
Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control
High serum urate is a prerequisite for gout and associated with metabolic disease. Genome-
wide association studies (GWAS) have reported dozens of loci associated with serum urate …
wide association studies (GWAS) have reported dozens of loci associated with serum urate …
[HTML][HTML] Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout
R Wrigley, AJ Phipps-Green, RK Topless… - Arthritis research & …, 2020 - Springer
Abstract Background The ABCG2 Q141K (rs2231142) and rs10011796 variants associate
with hyperuricaemia (HU). The effect size of ABCG2 rs2231142 on urate is~ 60% that of …
with hyperuricaemia (HU). The effect size of ABCG2 rs2231142 on urate is~ 60% that of …
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically …
A Nakayama, M Nakatochi, Y Kawamura… - Annals of the …, 2020 - ard.bmj.com
Objectives Genome-wide meta-analyses of clinically defined gout were performed to identify
subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these …
subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these …
[HTML][HTML] The relationship between ferritin and urate levels and risk of gout
Background Ferritin positively associates with serum urate and an interventional study
suggests that iron has a role in triggering gout flares. The objective of this study was to …
suggests that iron has a role in triggering gout flares. The objective of this study was to …
[HTML][HTML] The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect
Background Prevention of hyperuricaemia (HU) is critical to the prevention of gout.
Understanding causal relationships and relative contributions of various risk factors to …
Understanding causal relationships and relative contributions of various risk factors to …
Aotearoa New Zealand Māori and Pacific Population-amplified Gout Risk Variants: CLNK Is a Separate Risk Gene at the SLC2A9 Locus
Objective The Māori and Pacific (Polynesian) population of Aotearoa New Zealand has a
high prevalence of gout. Our aim was to identify potentially functional missense genetic …
high prevalence of gout. Our aim was to identify potentially functional missense genetic …