Expressive

rs12221133 - CDC123

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. - Nature genetics (2019) · Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y · PubMed 29403010

    Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we identified 1,407 trait-associated loci (P < 5.0 × 10 ), 679 of which were novel. By incorporating 32 additional GWAS results for complex diseases and traits in Japanese individuals, we further highlighted pleiotropy, genetic correlations, and cell-type specificity across quantitative traits and diseases, which substantially expands the current understanding of the associated genetics and biology. This study identified both shared polygenic effects and cell-type specificity

  • 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

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • Hemoglobin A1c and fasting glucose High

    Variant strongly associated with elevated HbA1c levels; regular monitoring enables detection of glycemic dysregulation early

    Annual HbA1c and fasting glucose testing; consider more frequent testing if family history of diabetes

Diet

  • Optimize carbohydrate quality and fiber intake Moderate

    Variant carriers show elevated HbA1c; dietary approaches emphasizing glucose stability may help offset genetic predisposition to higher HbA1c

    Emphasize whole grains, legumes, non-starchy vegetables; limit refined carbohydrates and added sugars

Discuss with your doctor

  • Personalized metabolic health and diabetes prevention strategy Moderate

    Strong genetic association with HbA1c warrants proactive discussion of tailored prevention approaches and baseline metabolic assessment