Expressive

rs10401176 - BCL3

Magnitude 2.0 · 5 studies on file

Reported associations

  • Identification of 16 novel Alzheimer's disease loci using multi‐ancestry meta‐analyses - Alzheimer's & dementia : the journal of the Alzheimer's Association (2025) · Willett JDS, Waqas M, Choi Y, Ngai T, Mullin K, Tanzi RE, Prokopenko D · 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

  • Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits - Nature communications (2024) · Koskeridis F, Fancy N, Tan PF, Meena D, Evangelou E, Elliott P, Wang D, Matthews PM, Dehghan A, Tzoulaki I · 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

  • Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia. - Atherosclerosis (2022) · Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR · PubMed 34906840

    Familial combined hyperlipidemia (FCHL) is one of the most common inherited lipid phenotypes, characterized by elevated plasma concentrations of apolipoprotein B-100 and triglycerides. The genetic inheritance of FCHL remains poorly understood. The goals of this study were to investigate the polygenetic architecture and cardiovascular risk associated with FCHL. We identified individuals with an FCHL phenotype among 349,222 unrelated participants of European ancestry in the UK Biobank using modified versions of 5 different diagnostic criteria. The prevalence of the FCHL phenotype was 11.44% (n = 39,961), 5.01% (n = 17,485), 1.48% (n = 5,153), 1.10% (n = 3,838), and 0.48% (n = 1,688) according to modified versions of the Consensus Conference, Dutch, Mexico, Brunzell, and Goldstein c

  • GWAS on family history of Alzheimer's disease - Translational psychiatry (2019) · Marioni RE, Harris SE, Zhang Q, McRae AF, Hagenaars SP, Hill WD, Davies G, Ritchie CW, Gale CR, Starr JM, Goate AM, Porteous DJ, Yang J, Evans KL, Deary IJ, Wray NR, Visscher PM · 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

  • Shared genetic architecture between metabolic traits and Alzheimer's disease: A large scale genome-wide cross-trait analysis - Human genetics (2019) · Zhu Z, Lin Y, Li X, Driver JA, Liang L · PubMed 30805717

    ABSTRACT: A growing number of studies clearly demonstrate a substantial link between metabolic dysfunction and the risk of Alzheimer's disease (AD), especially glucose related dysfunction; one hypothesis for this comorbidity is the presence of a common genetic etiology. We conducted a large-scale cross-trait GWAS to investigate the genetic overlap between AD and 10 metabolic traits. Among all the metabolic traits, fasting glucose, fasting insulin and HDL were found to be genetically associated with AD. Local genetic covariance analysis found 19q13 region had strong local genetic correlation between AD and T2D (P=6.78×10−22), LDL (P=1.74×10−253) and HDL (P=7.94×10−18). Cross-trait meta-analysis identified 4 loci that were associated with AD and fasting glucose, 3 loci that were a

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