rs11066390 - RPH3A
Magnitude 2.2 · 1 study on file
Reported associations
-
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels - Unknown journal (n.d.) · Unknown authors · PubMed 31578528
ABSTRACT: Elevated serum urate levels cause gout and correlate with cardio-metabolic diseases via poorly understood mechanisms. We performed a trans-ethnic genome-wide association study of serum urate among 457,690 individuals, identifying 183 loci (147 novel) that improve prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardio-metabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci, and co-localization with gene expression in 47 tissues implicated kidney and liver as main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in liver and kidney, HNF1
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
-
serum urate level High
Genetic variant rs11066390 is associated with elevated serum uric acid; monitoring helps assess gout and chronic kidney disease risk
measure serum urate level; repeat annually
Discuss with your doctor
-
genetic predisposition to elevated serum urate High
rs11066390 risk allele A is associated with increased uric acid production; clinical guidance on monitoring and prevention strategies is warranted