Expressive

rs11653507 - BPTF x LINC02315

Magnitude 2.0 · 5 studies on file

Reported associations

  • A multi-ancestry genetic study of pain intensity in 598,339 veterans. - Nature medicine (2024) · Toikumo S, Vickers-Smith R, Jinwala Z, Xu H, Saini D, Hartwell EE, Pavicic M, Sullivan KA, Xu K, Jacobson DA, Gelernter J, Rentsch CT, Stahl E, Cheatle M, Zhou H, Waxman SG, Justice AC, Kember RL, Kranzler HR · PubMed 38429522

    Chronic pain is a common problem, with more than one-fifth of adult Americans reporting pain daily or on most days. It adversely affects the quality of life and imposes substantial personal and economic costs. Efforts to treat chronic pain using opioids had a central role in precipitating the opioid crisis. Despite an estimated heritability of 25-50%, the genetic architecture of chronic pain is not well-characterized, in part because studies have largely been limited to samples of European ancestry. To help address this knowledge gap, we conducted a cross-ancestry meta-analysis of pain intensity in 598,339 participants in the Million Veteran Program, which identified 126 independent genetic loci, 69 of which are new. Pain intensity was genetically correlated with other pain phenotypes, lev

  • Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease - Unknown journal (n.d.) · Unknown authors · PubMed 35047847

    ABSTRACT: Summary The prevalence of non-alcoholic fatty liver disease (NAFLD), now also known as metabolic dysfunction-associated fatty liver disease (MAFLD), is rapidly increasing worldwide due to the ongoing obesity epidemic. However, currently the NALFD diagnosis requires non-readily available imaging technologies or liver biopsy, which has drastically limited the sample sizes of NAFLD studies and hampered the discovery of its genetic component. Here we utilized the large UK Biobank (UKB) to accurately estimate the NAFLD status in UKB based on common serum traits and anthropometric measures. Scoring all individuals in UKB for NAFLD risk resulted in 28,396 NAFLD cases and 108,652 healthy individuals at a >90% confidence level. Using this imputed NAFLD status to perform the largest NAFLD

  • GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Unknown journal (n.d.) · Unknown authors · PubMed 34021172

    ABSTRACT: Genetic studies have examined body-shape measures adjusted for body mass index (BMI), while allometric indices are additionally adjusted for height. We performed the first genome-wide association study of A Body Shape Index (ABSI), Hip Index (HI) and the new Waist-to-Hip Index and compared these with traditional indices, using data from the UK Biobank Resource for 219,872 women and 186,825 men with white British ancestry and Bayesian linear mixed-models (BOLT-LMM). One to two thirds of the loci identified for allometric body-shape indices were novel. Most prominent was rs72959041 variant in RSPO3 gene, expressed in visceral adipose tissue and regulating adrenal cell renewal. Highly ranked were genes related to morphogenesis and organogenesis, previously additionally linked to can

  • Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 32450446

    ABSTRACT: Genome-wide association studies have identified many loci associated with Alzheimer's dementia. However, these variants only explain part of the heritability of Alzheimer's disease (AD). As genetic epistasis can be a major contributor to the "missing heritability" of AD, we conducted genome-wide epistasis screening for AD pathologies in two independent cohorts. First, we performed a genome-wide epistasis study of AD-related brain pathologies (Nmax = 1,318) in ROS/MAP. Candidate interactions were validated using cerebrospinal fluid biomarkers of AD in ADNI (Nmax = 1,128). Further functional analysis tested the association of candidate interactions with neuroimaging phenotypes. For tau and amyloid-β (Aβ) pathology, we identified 2,803 and 464 candidate SNP-SNP interaction

  • 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

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