rs12035406 - SMYD3
Magnitude 2.8 · 1 study on file
Reported associations
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Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients - Unknown journal (n.d.) · Unknown authors · PubMed 32238385
ABSTRACT: Objectives Genome-wide meta-analyses of clinically defined gout were performed to identify subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these loci was also conducted to investigate genetic risks characteristic of the Japanese population over the last 2000-3000 years. Methods Two genome-wide association studies (GWASs) of 3053 clinically defined gout cases and 4554 controls from Japanese males were performed using the Japonica Array and Illumina Array platforms. About 7.2 million single-nucleotide polymorphisms were meta-analysed after imputation. Patients were then divided into four clinical subtypes (the renal underexcretion type, renal overload type, combined type and normal type), and meta-analyses were conducted in the same manner.
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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kidney function panel Moderate
renal uric acid underexcretion may coexist with other kidney function variations; baseline creatinine and eGFR inform management strategy
obtain serum creatinine and eGFR; repeat if uric acid elevation confirmed
Diet
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high-purine foods Moderate
G allele reduces renal uric acid clearance; dietary purine restriction minimizes substrate for hyperuricemia
limit red meat, organ meats, shellfish, legumes; prioritize lean protein and plant-based options
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regular alcohol consumption Moderate
alcohol impairs renal uric acid excretion and increases purine load; effect amplified in G carriers with reduced clearance
limit to <=1 drink/day for women, <=2 for men; avoid binge episodes
Discuss with your doctor
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urate-lowering medication eligibility Moderate
G carriers with elevated serum urate face amplified gout risk; xanthine oxidase inhibitor or uricosuric therapy prevents episodes if uric acid remains chronically elevated
discuss baseline uric acid level, family history, and gout prevention targets with provider
Lifestyle
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adequate daily hydration Moderate
increased urine volume dilutes uric acid and enhances renal clearance despite genetic underexcretion tendency
target 2-3 liters daily; increase in hot climates or with exercise
Screening
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serum uric acid level Moderate
G allele impairs renal uric acid excretion; periodic monitoring tracks gout risk trajectory and guides preventive timing
baseline test now, annual screening thereafter, sooner if gout symptoms emerge