rs12450895 - LINC02086

Magnitude 2.2 · 3 studies on file

Reported associations

  • Large genome-wide association study identifies three novel risk variants for restless legs syndrome - Unknown journal (n.d.) · Unknown authors · PubMed 33239738

    ABSTRACT: Restless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases = 10,257) and a follow up sample of 24,977 (cases = 6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10−18), rs10068599-T (OR = 1.09, P = 6.9 × 10−10) and rs10769894-A (OR = 0.90, P = 9.4 × 10−14). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended p

  • Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction - Unknown journal (n.d.) · Unknown authors · PubMed 38839884

    ABSTRACT: Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X. Sex-specific meta-analyses revealed largely overlapping genetic predispositions of the sexes (rg = 0.96). Locus annotation prioritized druggable genes such as glutamate receptors 1 and 4, and Mendelian randomization indicated RLS as a causal risk factor for diabetes. Machine learning approaches combining genetic and nongen

  • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 29029846

    ABSTRACT: Summary Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. Methods In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10−8) were tested for replication in


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Lifestyle context

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

Bloodwork

  • Serum iron and ferritin levels Moderate

    Low brain iron is implicated in RLS pathophysiology; peripheral iron deficiency can impair brain iron availability and worsen symptoms.

    Discuss iron status with healthcare provider; check serum iron, ferritin, and transferrin saturation if RLS symptoms develop.

Exercise

  • Regular physical activity Moderate

    Physical activity is protective against RLS; individuals with lower activity levels have higher RLS prevalence and worse sleep quality.

    Aim for 150 minutes moderate aerobic activity weekly or equivalent resistance/flexibility training.

Lifestyle

  • Healthy body weight maintenance Moderate

    Obesity is associated with significantly higher RLS prevalence and symptom severity in epidemiological cohorts.

    Maintain BMI in normal range 18.5-24.9 kg/m2 or discuss weight targets with provider.

  • Moderate alcohol intake Moderate

    High alcohol intake is a modifiable risk factor associated with worse RLS symptoms and increased prevalence.

    Keep alcohol below moderate levels per standard guidelines; avoid heavy intake especially in evenings.

  • Smoking Moderate

    Smoking is identified as a lifestyle risk factor consistently associated with higher RLS prevalence.

    If current smoker, pursue smoking cessation; if non-smoker, remain abstinent.

Screening

  • Restless legs syndrome symptoms Moderate

    Variant increases RLS risk 9% through effects on HOXB2 expression and motor neuron circuit development; RLS causes evening leg restlessness, sleep disruption, and reduced quality of life.

    Be alert for uncomfortable leg sensations in evenings/nights or irresistible urge to move; discuss symptoms with healthcare provider if they develop or worsen.