rs12417665 - FRMD8
Magnitude 2.2 · 1 study on file
Reported associations
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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
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Urate management and gout prevention High
Carriers of the T allele have genetically elevated serum urate; discussion of lifestyle and pharmacological prevention strategies is warranted.
Discuss baseline urate management, gout risk, and prevention strategies
Screening
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Serum uric acid levels High
The T allele at rs12417665 is associated with significantly elevated serum urate (p=7e-90, n=457690), indicating genetic predisposition to higher baseline urate.
Baseline serum urate measurement; repeat annually