Expressive

rs114993678 - SYNGAP1

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. - Nature genetics (2022) · Watanabe K, Jansen PR, Savage JE, Nandakumar P, Wang X, Hinds DA, Gelernter J, Levey DF, Polimanti R, Stein MB, Van Someren EJW, Smit AB, Posthuma D · PubMed 35835914

    Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment currently exists. Previous genome-wide association studies with up to 1.3 million subjects identified over 200 associated loci. This extreme polygenicity suggested that many more loci remain to be discovered. The current study almost doubled the sample size to 593,724 cases and 1,771,286 controls, thereby increasing statistical power, and identified 554 risk loci (including 364 novel loci). To capitalize on this large number of loci, we propose a novel strategy to prioritize genes using external biological resources and functional interactions between genes across risk loci. Of all 3,898 genes naively implicated from the risk loci, we prioritize 289 and find brain-tissue expression spec

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Lifestyle context

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

Discuss with your doctor

  • genetic predisposition to insomnia Moderate

    rs114993678 C allele is associated with increased insomnia risk; healthcare provider awareness enables personalized assessment

    raise this genetic finding with healthcare provider; discuss screening and management options

Lifestyle

  • sleep hygiene optimization Moderate

    Consistent sleep environment and routine may partially mitigate genetic predisposition to insomnia

    maintain consistent sleep schedule, keep bedroom cool and dark, limit screen use 1 hour before bed

Screening

  • insomnia symptoms and sleep quality Moderate

    rs114993678 C allele associates with increased insomnia risk across 2.4M individuals; proactive monitoring enables early intervention

    assess sleep metrics weekly; discuss with provider if symptoms occur 3+ nights weekly