rs118106526 - PFKL
Magnitude 2.2 · 1 study on file
Reported associations
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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses - Unknown journal (n.d.) · Unknown authors · PubMed 34226706
ABSTRACT: Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total N~500K) to impute exome-wide variants with accuracy R2>0.5 down to minor allele frequency (MAF) ~0.00005. Association and fine-mapping analyses of 54 quantitative traits identified 1,189 significant associations (P<5 x 10−8) involving 675 distinct rare protein-altering variants (MAF<0.01) that passed stringent filters for likely causality. Across all traits, 49% of associations (578/1,189) occurred in genes with two or more hits; follow-up analyses of these genes identified allelic series containing up
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Diet
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Emphasis on whole grains and legumes Moderate
PFKL encodes phosphofructokinase, a rate-limiting glycolysis enzyme; variants affect glucose processing efficiency
Limit refined carbohydrates; prioritize low glycemic index foods
- GWAS_CATALOG:34226706
Exercise
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Regular aerobic exercise Moderate
Aerobic activity improves glucose tolerance and reduces HbA1c; particularly relevant given variant association with elevated HbA1c
Aim for 150+ minutes moderate intensity aerobic activity weekly
- GWAS_CATALOG:34226706
Screening
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Hemoglobin A1c screening Moderate
PFKL variant associated with elevated hemoglobin A1c levels in 437k-person GWAS (p=1.0e-19)
Check HbA1c at least annually
- GWAS_CATALOG:34226706