Expressive

rs11634019 - ISL2

Magnitude 2.2 · 1 study on file

Reported associations

  • Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring - Unknown journal (n.d.) · Unknown authors · PubMed 36525587

    ABSTRACT: Abstract Study Objectives Despite its association with severe health conditions, the etiology of sleep apnea (SA) remains understudied. This study sought to identify genetic variants robustly associated with SA risk. Methods We performed a genome-wide association study (GWAS) meta-analysis of SA across five cohorts (NTotal = 523 366), followed by a multi-trait analysis of GWAS (multi-trait analysis of genome-wide association summary statistics [MTAG]) to boost power, leveraging the high genetic correlation between SA and snoring. We then adjusted our results for the genetic effects of body mass index (BMI) using multi-trait-based conditional and joint analysis (mtCOJO) and sought replication of lead hits in a large cohort of participants from 23andMe, Inc (NTotal = 1 477

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Lifestyle context

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

Bloodwork

  • Vitamin D levels Low

    Latent causal variable analysis suggests vitamin D may have a protective causal effect against sleep apnea, potentially through immune and respiratory pathway regulation

    Check 25-hydroxyvitamin D level; maintain above 30 ng/mL, supplement 1000-2000 IU daily if deficient

Lifestyle

  • Maintain healthy body weight High

    BMI is the most important modifiable risk factor for sleep apnea; obesity increases fat deposition in upper airway, narrowing throat and reducing muscle activity during sleep

    Aim for BMI less than 25 kg/m2; if overweight, pursue gradual 5-10 percent weight loss through diet and activity

  • Alcohol consumption, especially before bedtime Low

    Alcohol relaxes pharyngeal dilator muscles and depresses respiration during sleep, exacerbating apneic and hypopneic episodes

    Limit to moderate amounts and avoid within 3-4 hours of sleep

  • Smoking Low

    Smoking increases airway inflammation and oxidative stress, worsening sleep apnea severity and associated hypoxia

Screening

  • Sleep apnea evaluation via sleep study High

    rs11634019 is associated with increased sleep apnea risk; early detection prevents cardiovascular and neurological sequelae including hypertension, stroke, and oxidative stress injury

    Discuss with physician if experiencing snoring, witnessed apneas, daytime sleepiness, or mood changes; formal sleep study if clinically indicated