Expressive

rs1065656 - NUBP2, SPSB3

Magnitude 2.0 · 4 studies on file

Reported associations

  • A scalable variational inference approach for increased mixed-model association power - Nature genetics (2025) · Loya H, Kalantzis G, Cooper F, Palamara PF · PubMed 39789286

    ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

  • Mapping the proteo-genomic convergence of human diseases - Science (New York, N.Y.) (2021) · Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J, Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C · PubMed 34648354

    ABSTRACT: Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3,892 plasma proteins to create a cis-anchored gene-protein-disease map of 1,859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to 1) connect etiologically related diseases, 2) provide biological context for new or emerging disorders, and 3) integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at GWAS loci, addressing a major barrie

  • Genomewide meta‐analysis identifies loci associated with IGF‐I and IGFBP‐3 levels with impact on age‐related traits - Aging cell (2017) · Teumer A, Qi Q, Nethander M, Aschard H, Bandinelli S, Beekman M, Berndt SI, Bidlingmaier M, Broer L, Cappola A, Ceda GP, Chanock S, Chen MH, Chen TC, Chen YD, Chung J, Del Greco Miglianico F, Eriksson J, Ferrucci L, Friedrich N, Gnewuch C, Goodarzi MO, Grarup N, Guo T, Hammer E, Hayes RB, Hicks AA, Hofman A, Houwing-Duistermaat JJ, Hu F, Hunter DJ, Husemoen LL, Isaacs A, Jacobs KB, Janssen JA, Jansson JO, Jehmlich N, Johnson S, Juul A, Karlsson M, Kilpelainen TO, Kovacs P, Kraft P, Li C, Linneberg A, Liu Y, Loos RJ, Lorentzon M, Lu Y, Maggio M, Magi R, Meigs J, Mellström D, Nauck M, Newman AB, Pollak MN, Pramstaller PP, Prokopenko I, Psaty BM, Reincke M, Rimm EB, Rotter JI, Saint Pierre A, Schurmann C, Seshadri S, Sjögren K, Slagboom PE, Strickler HD, Stumvoll M, Suh Y, Sun Q, Zhang C, Svensson J, Tanaka T, Tare A, Tönjes A, Uh HW, van Duijn CM, van Heemst D, Vandenput L, Vasan RS, Völker U, Willems SM, Ohlsson C, Wallaschofski H, Kaplan RC · PubMed 27329260

    ABSTRACT: Summary The growth hormone/insulin‐like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF‐related proteins including IGF‐I and IGF‐binding protein‐3 (IGFBP‐3) have also been implicated in risk of human diseases including cardiovascular diseases, diabetes, and cancer. Through genomewide association study of up to 30 884 adults of European ancestry from 21 studies, we confirmed and extended the list of previously identified loci associated with circulating IGF‐I and IGFBP‐3 concentrations (IGF1, IGFBP3,GCKR,TNS3, GHSR, FOXO3, ASXL2, NUBP2/IGFALS, SORCS2, and CELSR2). Significant sex interactions, which were characterized by different genotype-phenotype associations between men and women, were found only for associations of

  • A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3. - Human molecular genetics (2011) · Kaplan RC, Petersen AK, Chen MH, Teumer A, Glazer NL, Döring A, Lam CS, Friedrich N, Newman A, Müller M, Yang Q, Homuth G, Cappola A, Klopp N, Smith H, Ernst F, Psaty BM, Wichmann HE, Sawyer DB, Biffar R, Rotter JI, Gieger C, Sullivan LS, Völzke H, Rice K, Spyroglou A, Kroemer HK, Ida Chen YD, Manolopoulou J, Nauck M, Strickler HD, Goodarzi MO, Reincke M, Pollak MN, Bidlingmaier M, Vasan RS, Wallaschofski H · PubMed 21216879

    Insulin-like growth factor-I (IGF-I) and insulin-like growth factor-binding protein-3 (IGFBP-3) are involved in cell replication, proliferation, differentiation, protein synthesis, carbohydrate homeostasis and bone metabolism. Circulating IGF-I and IGFBP-3 concentrations predict anthropometric traits and risk of cancer and cardiovascular disease. In a genome-wide association study of 10 280 middle-aged and older men and women from four community-based cohort studies, we confirmed a known association of single nucleotide polymorphisms in the IGFBP3 gene region on chromosome 7p12.3 with IGFBP-3 concentrations using a significance threshold of P < 5 × 10(-8) (P = 3.3 × 10(-101)). Furthermore, the same IGFBP3 gene locus (e.g. rs11977526) that was associated with IGFBP-3 concentrations was al

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.