rs1234413 - MBD5
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.
Bloodwork
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Monitor serum urate levels annually Moderate
This SNP increases uric acid production and serum urate levels based on large-scale genetic association studies
Annual serum urate testing, target <6 mg/dL
Diet
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Limit high-purine foods if serum urate elevated Moderate
Dietary purines are metabolized to uric acid; reduction helps maintain lower serum urate levels
Consider reducing red meat, organ meats, and high-fructose foods; increase low-fat dairy
Discuss with your doctor
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Discuss gout and kidney stone risk with physician Moderate
Elevated uric acid increases risk for gout and uric acid stone formation