Expressive

rs11731421 - TACC3 - FGFR3

Magnitude 2.0 · 8 studies on file

Reported associations

  • Translational genomics of osteoarthritis in 1,962,069 individuals - Nature (2025) · Hatzikotoulas K, Southam L, Stefansdottir L, Boer CG, McDonald ML, Pett JP, Park YC, Tuerlings M, Mulders R, Barysenka A, Arruda AL, Tragante V, Rocco A, Bittner N, Chen S, Horn S, Srinivasasainagendra V, To K, Katsoula G, Kreitmaier P, Tenghe AMM, Gilly A, Arbeeva L, Chen LG, de Pins AM, Dochtermann D, Henkel C, Höijer J, Ito S, Lind PA, Lukusa-Sawalena B, Minn AKK, Mola-Caminal M, Narita A, Nguyen C, Reimann E, Silberstein MD, Skogholt AH, Tiwari HK, Yau MS, Yue M, Zhao W, Zhou JJ, Alexiadis G, Banasik K, Brunak S, Campbell A, Cheung JTS, Dowsett J, Faquih T, Faul JD, Fei L, Fenstad AM, Funayama T, Gabrielsen ME, Gocho C, Gromov K, Hansen T, Hudjashov G, Ingvarsson T, Johnson JS, Jonsson H, Kakehi S, Karjalainen J, Kasbohm E, Lemmelä S, Lin K, Liu X, Loef M, Mangino M, McCartney D, Millwood IY, Richman J, Roberts MB, Ryan KA, Samartzis D, Shivakumar M, Skou ST, Sugimoto S, Suzuki K, Takuwa H, Teder-Laving M, Thomas L, Tomizuka K, Turman C, Weiss S, Wu TT, Zengini E, Zhang Y, Ferreira MAR, Babis G, Baras A, Barker T, Carey DJ, Cheah KSE, Chen Z, Cheung JP, Daly M, de Mutsert R, Eaton CB, Erikstrup C, Furnes ON, Golightly YM, Gudbjartsson DF, Hailer NP, Hayward C, Hochberg MC, Homuth G, Huckins LM, Hveem K, Ikegawa S, Ishijima M, Isomura M, Jones M, Kang JH, Kardia SLR, Kloppenburg M, Kraft P, Kumahashi N, Kuwata S, Lee MTM, Lee PH, Lerner R, Li L, Lietman SA, Lotta L, Lupton MK, Mägi R, Martin NG, McAlindon TE, Medland SE, Michaëlsson K, Mitchell BD, Mook-Kanamori DO, Morris AP, Nabika T, Nagami F, Nelson AE, Ostrowski SR, Palotie A, Pedersen OB, Rosendaal FR, Sakurai-Yageta M, Schmidt CO, Sham PC, Singh JA, Smelser DT, Smith JA, Song YQ, Sørensen E, Tamiya G, Tamura Y, Terao C, Thorleifsson G, Troelsen A, Tsezou A, Uchio Y, Uitterlinden AG, Ullum H, Valdes AM, van Heel DA, Walters RG, Weir DR, Wilkinson JM, Winsvold BS, Yamamoto M, Zwart JA, Stefansson K, Meulenbelt I, Teichmann SA, van Meurs JBJ, Styrkarsdottir U, Zeggini E · PubMed 40205036

    ABSTRACT: Osteoarthritis is the third most rapidly growing health condition associated with disability, after dementia and diabetes. By 2050, the total number of patients with osteoarthritis is estimated to reach 1 billion worldwide. As no disease-modifying treatments exist for osteoarthritis, a better understanding of disease aetiopathology is urgently needed. Here we perform a genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Using single-cell multiomics data, we identify signal enrichment in embryonic skeletal development pathways. We integrate orthogonal lines of evidence, including transcriptome, proteome and epigenome profiles of primary joint tiss

  • Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline - Nature communications (2025) · Schoeler T, Pingault JB, Kutalik Z · PubMed 40374629

    ABSTRACT: Large-scale genomic studies focusing on the genetic contribution to human aging have mostly relied on cross-sectional data. With the release of longitudinally curated aging phenotypes by the UK Biobank (UKBB), it is now possible to study aging over time at genome-wide scale. In this work, we evaluated the suitability of competing models of change in realistic simulation settings, performed genome-wide association scans on simulation-validated measures of age-related deweekcline, and followed up with LD-score regression and Mendelian Randomization (MR) analyses. Focusing on global cognitive and physical function, we observed marked differences between baseline function (θ) and accelerated decline (Δ). Both outcomes showed distinct heritability levels (e.g., 31.38% versus 3.15%

  • 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%

  • A Genomics England haplotype reference panel and imputation of UK Biobank - Nature genetics (2024) · Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need AC, Palamara PF, Caulfield M, Marchini J, Myers S · PubMed 39134668

    ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10−4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10−11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants. A Genomics England haplotype reference panel constructed using sequence data from 78,195 individuals

  • Lifetime risk and genetic predisposition to post-traumatic OA of the knee in the UK Biobank. - Osteoarthritis and cartilage (2023) · Hollis B, Chatzigeorgiou C, Southam L, Hatzikotoulas K, Kluzek S, Williams A, Zeggini E, Jostins-Dean L, Watt FE · PubMed 37247657

    Acute knee injury is associated with post-traumatic OA (PTOA). Very little is known about the genome-wide associations of PTOA when compared with idiopathic OA (iOA). Our objective was to describe the development of knee OA after a knee injury and its genetic associations in UK Biobank (UKB). Clinically significant structural knee injuries in those ≤50 years were identified from electronic health records and self-reported data in 502,409 UKB participants. Time-to-first knee osteoarthritis (OA) code was compared in injured cases and age-/sex-matched non-injured controls using Cox Proportional Hazards models. A time-to-OA genome-wide association study (GWAS) sought evidence for PTOA risk variants 6 months to 20 years following injury. Evidence for associations of two iOA polygenic risk sco

  • GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Scientific reports (2021) · Christakoudi S, Evangelou E, Riboli E, Tsilidis KK · 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

  • NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis - Translational psychiatry (2020) · Alliey-Rodriguez N, Grey TA, Shafee R, Asif H, Lutz O, Bolo NR, Padmanabhan J, Tandon N, Klinger M, Reis K, Spring J, Coppes L, Zeng V, Hegde RR, Hoang DT, Bannai D, Nawaz U, Henson P, Liu S, Gage D, McCarroll S, Bishop JR, Hill S, Reilly JL, Lencer R, Clementz BA, Buckley P, Glahn DC, Meda SA, Narayanan B, Pearlson G, Keshavan MS, Ivleva EI, Tamminga C, Sweeney JA, Curtis D, Badner JA, Keedy S, Rapoport J, Liu C, Gershon ES · PubMed 31530798

    ABSTRACT: Schizophrenia, Schizoaffective, and Bipolar disorders share behavioral and phenomenological traits, intermediate phenotypes, and some associated genetic loci with pleiotropic effects. Volumetric abnormalities in brain structures are among the intermediate phenotypes consistently reported associated with these disorders. In order to examine the genetic underpinnings of these structural brain modifications, we performed genome-wide association analyses (GWAS) on 60 quantitative structural brain MRI phenotypes in a sample of 777 subjects (483 cases and 294 controls pooled together). Genotyping was performed with the Illumina PsychChip microarray, followed by imputation to the 1000 genomes multiethnic reference panel. Enlargement of the Temporal Horns of Lateral Ventricles (THLV) is

  • Leveraging Polygenic Functional Enrichment to Improve GWAS Power. - American journal of human genetics (2019) · Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL · PubMed 30595370

    Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyses. We show via simulations with real genotypes that the method, functionally informed novel discovery of risk loci (FINDOR), correctly controls the false-positive rate at null loci and attains a 9%-38% increase in the number of independent associations detected at causal loci, depending on trait polygenicity and sample size. We applied FINDOR to 27 independent complex traits and diseases from the interim UK Biobank release (average N = 130K). Averaged across traits, we attaine

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