Expressive

rs11759522 - SLC22A23

Magnitude 2.2 · 5 studies on file

Reported associations

  • Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy. - Nature human behaviour (2023) · Hindley G, Shadrin AA, van der Meer D, Parker N, Cheng W, O'Connell KS, Bahrami S, Lin A, Karadag N, Holen B, Bjella T, Deary IJ, Davies G, Hill WD, Bressler J, Seshadri S, Fan CC, Ueland T, Djurovic S, Smeland OB, Frei O, Dale AM, Andreassen OA · PubMed 37365406

    Personality and cognitive function are heritable mental traits whose genetic foundations may be distributed across interconnected brain functions. Previous studies have typically treated these complex mental traits as distinct constructs. We applied the 'pleiotropy-informed' multivariate omnibus statistical test to genome-wide association studies of 35 measures of neuroticism and cognitive function from the UK Biobank (n = 336,993). We identified 431 significantly associated genetic loci with evidence of abundant shared genetic associations, across personality and cognitive function domains. Functional characterization implicated genes with significant tissue-specific expression in all tested brain tissues and brain-specific gene sets. We conditioned independent genome-wide association

  • Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 35552371

    ABSTRACT: Abstract Approximately 30% of elderly adults are cognitively unimpaired at time of death despite the presence of Alzheimer's disease neuropathology at autopsy. Studying individuals who are resilient to the cognitive consequences of Alzheimer's disease neuropathology may uncover novel therapeutic targets to treat Alzheimer's disease. It is well established that there are sex differences in response to Alzheimer's disease pathology, and growing evidence suggests that genetic factors may contribute to these differences. Taken together, we sought to elucidate sex-specific genetic drivers of resilience. We extended our recent large scale genomic analysis of resilience in which we harmonized cognitive data across four cohorts of cognitive ageing, in vivo amyloid PET across two

  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function - Unknown journal (n.d.) · Unknown authors · PubMed 29844566

    ABSTRACT: General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10−8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function

  • Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation - Unknown journal (n.d.) · Unknown authors · PubMed 40645996

    ABSTRACT: Atrial fibrillation (AF) is a common cardiac arrhythmia with strong genetic components, yet its underlying molecular mechanisms and potential therapeutic targets remain incompletely understood. We conducted a cross-population genome-wide meta-analysis of 252,438 AF cases and identified 525 loci that met genome-wide significance. Two loci of PITX2 and ZFHX3 genes were identified as shared across populations of different ancestries. Comprehensive gene prioritization approaches reinforced the role of muscle development and heart contraction while also uncovering additional pathways, including cellular response to transforming growth factor-beta. Population-specific genetic correlations uncovered common and unique circulatory comorbidities between Europeans and Africans. Mendelian ra

  • Genome-Wide Association Study Shows that Executive Functioning Is Influenced by GABAergic Processes and Is a Neurocognitive Genetic Correlate of Psychiatric Disorders - Unknown journal (n.d.) · Unknown authors · PubMed 36150907

    ABSTRACT: Background: Deficits in executive functions (EFs), cognitive processes that control goal-directed behaviors, are associated with psychopathology and neurological disorders. Little is known about the molecular bases of EF individual differences. Prior candidate gene studies have been underpowered in their search for dopaminergic processes involved in cognitive functioning, and existing EF genome-wide association studies (GWASs) used small sample sizes and/or focused on individual tasks that are imprecise measures of EF. Methods: We conducted a GWAS of a Common EF (cEF) factor score based on multiple tasks in the UK Biobank (N=427,037 European-descent individuals). Results: We found 129 independent genome-wide significant lead variants in 112 distinct loci and that cEF was associat

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