Expressive

rs11658168 - POLR2A

Magnitude 2.2 · 2 studies on file

Reported associations

  • Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation - Unknown journal (n.d.) · Unknown authors · PubMed 40645996

    ABSTRACT: Atrial fibrillation (AF) is a common cardiac arrhythmia with strong genetic components, yet its underlying molecular mechanisms and potential therapeutic targets remain incompletely understood. We conducted a cross-population genome-wide meta-analysis of 252,438 AF cases and identified 525 loci that met genome-wide significance. Two loci of PITX2 and ZFHX3 genes were identified as shared across populations of different ancestries. Comprehensive gene prioritization approaches reinforced the role of muscle development and heart contraction while also uncovering additional pathways, including cellular response to transforming growth factor-beta. Population-specific genetic correlations uncovered common and unique circulatory comorbidities between Europeans and Africans. Mendelian ra

  • An atlas of genetic influences on osteoporosis in humans and mice - Unknown journal (n.d.) · Unknown authors · PubMed 30598549

    ABSTRACT: Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound (eBMD) in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with eBMD, in ~1.2M individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds-ratio=58, p=10-75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice lacking target genes and found an increased abnormal skeletal phenotype frequency compared to 526

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Lifestyle context

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

Exercise

  • Regular aerobic exercise for cardiovascular health Moderate

    Exercise reduces blood pressure and improves cardiac function, decreasing AF risk

    150 minutes per week of moderate-intensity aerobic activity

Lifestyle

  • Limit or avoid alcohol consumption Moderate

    Alcohol is a known atrial fibrillation trigger

    Minimize alcohol intake; discuss safe limits with healthcare provider

  • Maintain healthy body weight Moderate

    Obesity increases atrial fibrillation risk, weight management is key AF prevention

    Target BMI 18.5-24.9; discuss weight management strategies with healthcare provider

Screening

  • Bone health assessment and mineral density screening Low

    rs11658168 is associated with reduced heel bone mineral density

    Discuss bone density screening with healthcare provider based on age and risk factors

  • Cardiac screening for atrial fibrillation Moderate

    rs11658168 shows strong association with increased atrial fibrillation risk

    Discuss baseline ECG and periodic heart rate monitoring with healthcare provider

Supplements

  • Adequate calcium and vitamin D intake Low

    Calcium and vitamin D are essential for maintaining bone mineral density

    Ensure intake of 1000-1200 mg calcium daily and 600-800 IU vitamin D daily