Expressive

rs12222793 - EEF1A1P49 - SNRPGP16

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetics of 35 blood and urine biomarkers in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 33462484

    ABSTRACT: Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n=363,228 individuals). We identify 1,857 loci associated with at least one trait, containing 3,374 fine-mapped associations, and additional sets of large-effect (> 0.1 sd) protein-altering, HLA, and copy-number variant associations. Through Mendelian Randomization analysis, we discover 51 causal relationships, including previously known agonistic effects of urate on gout and cystatin C on stroke. Finally, we develop polygenic risk scores for each biomarker and built 'multi-PRS' models for diseases using 35 PRSs simultaneously, which improved chronic kidney disease, type 2 diabetes, gout, and alcoholic cirr

  • Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population - Unknown journal (n.d.) · Unknown authors · PubMed 36653889

    ABSTRACT: Background Genome-wide association studies (GWAS) on type 2 diabetes mellitus (T2DM) have identified more than 400 distinct genetic loci associated with diabetes and nearly 120 loci for fasting plasma glucose (FPG) and fasting insulin level to date. However, genetic risk factors for the longitudinal deterioration of FPG have not been thoroughly evaluated. We aimed to identify genetic variants associated with longitudinal change of FPG over time. Methods We used two prospective cohorts in Korean population, which included a total of 10,528 individuals without T2DM. GWAS of repeated measure of FPG using linear mixed model was performed to investigate the interaction of genetic variants and time, and meta-analysis was conducted. Genome-wide complex trait analysis was used for herita

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.

Discuss with your doctor

  • Diabetes risk assessment and individualized prevention plan Moderate

    Genetic predisposition to elevated fasting glucose warrants personalized clinical risk assessment and prevention strategy.

    Review with healthcare provider; consider diabetes prevention program if appropriate

Lifestyle

  • Maintain consistent sleep schedule and sleep quality Low

    SNP is located near MTNR1B, a melatonin receptor regulating circadian glucose metabolism, suggesting sleep patterns particularly influence glucose control in this carrier.

    Aim for 7-9 hours nightly; maintain consistent sleep and wake times; address sleep disorders

Screening

  • Fasting glucose and hemoglobin A1c levels High

    Variant significantly increases fasting plasma glucose and hemoglobin A1c, marking elevated type 2 diabetes and prediabetes risk.

    Screen if not done recently; repeat every 1-3 years based on baseline and clinical context