Expressive

rs11570112 - MYBPC3

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome-Wide Association Studies for Cerebrospinal Fluid Soluble TREM2 in Alzheimer's Disease. - Frontiers in aging neuroscience (2020) · Liu C, Yu J · PubMed 31708768

    Alzheimer's disease (AD) is the most common form of dementia. Rare variants in triggering receptor expressed on myeloid cells 2 (TREM2) have been identified as risk factors for AD. Soluble TREM2 (sTREM2) in the cerebrospinal fluid (CSF) is a potential and novel biomarker of neuroinflammation implicated in the onset and progression of AD. To explore the roles of CSF sTREM2 on the pathogenesis of AD, we performed genome-wide association studies (GWAS) by using the data from Alzheimer's Disease Neuroimaging Initiative (ADNI). We found CSF sTREM2 levels were elevated with the disease stages, but there was no significant difference between that of AD patients and normal participants. CSF sTREM2 was positively correlated with CSF total tau and phosphorylated-tau levels (ρ > 0.35, < 1e-06; ρ >

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Lifestyle context

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

Discuss with your doctor

  • HCM risk stratification with cardiologist High

    Pathogenic MYBPC3 variants require specialized management including assessment for arrhythmia risk, medication optimization, and possible ICD evaluation.

    Cardiology referral for HCM-specific evaluation and ongoing management

    • ClinVar:180993

Exercise

  • Strenuous and high-intensity exercise High

    HCM significantly increases risk of ventricular arrhythmias and sudden cardiac death during intense physical exertion.

    Restrict to mild-moderate intensity; discuss personalized exercise prescription with cardiologist

    • ClinVar:180993

Screening

  • Echocardiography and ECG for hypertrophic cardiomyopathy High

    MYBPC3 pathogenic variants cause hypertrophic cardiomyopathy; imaging detects ventricular wall thickening and systolic dysfunction.

    Baseline echocardiography and 12-lead ECG; annual monitoring if abnormal findings

    • ClinVar:180993