Expressive

rs10407439 - BCAM - NECTIN2

Magnitude 4.5 · 7 studies on file

Reported associations

  • Identification of 16 novel Alzheimer's disease loci using multi‐ancestry meta‐analyses - Unknown journal (n.d.) · Unknown authors · PubMed 39998322

    ABSTRACT: Abstract INTRODUCTION Alzheimer's disease (AD) is the most prevalent form of dementia. While many AD‐associated genetic determinants have been identified, few studies have analyzed individuals of non‐European ancestry. METHODS We conducted a multi‐ancestry genome‐wide association study (GWAS) of clinically diagnosed AD and AD‐by‐proxy using whole genome sequencing data from the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS), National Institute of Mental Health, UK Biobank (UKB), and All of Us (AoU) consisting of 49,149 cases (12,074 clinically diagnosed and 37,075 AD‐by‐proxy) and 383,225 controls. Nearly half of NIAGADS and AoU participants were of non‐European ancestry. RESULTS For clinically diagnosed AD, we identified

  • Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 37985223

    ABSTRACT: Abstract INTRODUCTION Although large‐scale genome‐wide association studies (GWAS) have been conducted on AD, few have been conducted on continuous measures of memory performance and memory decline. METHODS We conducted a cross‐ancestry GWAS on memory performance (in 27,633 participants) and memory decline (in 22,365 participants; 129,201 observations) by leveraging harmonized cognitive data from four aging cohorts. RESULTS We found high heritability for two ancestry backgrounds. Further, we found a novel ancestry locus for memory decline on chromosome 4 (rs6848524) and three loci in the non‐Hispanic Black ancestry group for memory performance on chromosomes 2 (rs111471504), 7 (rs4142249), and 15 (rs74381744). In our gene‐level analysis, we found novel genes for memory d

  • GWAS on family history of Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 29777097

    ABSTRACT: Alzheimer's disease (AD) is a public health priority for the 21st century. Risk reduction currently revolves around lifestyle changes with much research trying to elucidate the biological underpinnings. We show that self-report of parental history of Alzheimer's dementia for case ascertainment in a genome-wide association study of 314,278 participants from UK Biobank (27,696 maternal cases, 14,338 paternal cases) is a valid proxy for an AD genetic study. After meta-analysing with published consortium data (n = 74,046 with 25,580 cases across the discovery and replication analyses), three new AD-associated loci (P < 5 × 10−8) are identified. These contain genes relevant for AD and neurodegeneration: ADAM10, BCKDK/KAT8 and ACE. Novel gene-based loci include drug

  • GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · PubMed 40545721

    ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

  • Sex‐specific genetic architecture of late‐life memory performance - Unknown journal (n.d.) · Unknown authors · PubMed 37984853

    ABSTRACT: Abstract BACKGROUND Women demonstrate a memory advantage when cognitively healthy yet lose this advantage to men in Alzheimer's disease. However, the genetic underpinnings of this sex difference in memory performance remain unclear. METHODS We conducted the largest sex‐aware genetic study on late‐life memory to date (N males = 11,942; N females = 15,641). Leveraging harmonized memory composite scores from four cohorts of cognitive aging and AD, we performed sex‐stratified and sex‐interaction genome‐wide association studies in 24,216 non‐Hispanic White and 3367 non‐Hispanic Black participants. RESULTS We identified three sex‐specific loci (rs67099044-CBLN2, rs719070-SCHIP1/IQCJ‐SCHIP), including an X‐chromosome locus (rs5935633-EGL6/TCEANC/OFD1), that

  • Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 30617256

    ABSTRACT: Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg=0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We

  • Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits - Unknown journal (n.d.) · Unknown authors · PubMed 39537608

    ABSTRACT: Several cardiovascular traits and diseases co-occur with Alzheimer's disease. We mapped their shared genetic architecture using multi-trait genome-wide association studies. Subsequent fine-mapping and colocalisation highlighted 16 genetic loci associated with both Alzheimer's and cardiovascular diseases. We prioritised rs11786896, which colocalised with Alzheimer's disease, atrial fibrillation and expression of PLEC in the heart left ventricle, and rs7529220, which colocalised with Alzheimer's disease, atrial fibrillation and expression of C1Q family genes. Single-cell RNA-sequencing data, co-expression network and protein-protein interaction analyses provided evidence for different mechanisms of PLEC, which is upregulated in left ventricular endothelium and cardiomyocyte

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