rs112490075 - MSL2
Magnitude 2.2 · 1 study on file
Reported associations
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A genome‐wide association meta‐analysis of all‐cause and vascular dementia - Unknown journal (n.d.) · Unknown authors · PubMed 39046104
ABSTRACT: Abstract INTRODUCTION Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD. METHODS We conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors. RESULTS For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonanc
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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dementia risk management and screening timeline Moderate
Carrier of dementia-associated allele with functional impact on immune signaling in neural tissue
Review family history, establish appropriate monitoring schedule
Screening
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cognitive baseline assessment Moderate
Risk allele associated with dementia in large GWAS (n=524,852); reduces IL20RB expression in nerve tissue, implicating neuroinflammatory pathway
Baseline cognitive testing, coordinate with physician