Expressive

rs11022131 - LINC02547

Magnitude 2.0 · 8 studies on file

Reported associations

  • The genetic architecture of human cortical folding - Science advances (2026) · van der Meer D, Kaufmann T, Shadrin AA, Makowski C, Frei O, Roelfs D, Monereo-Sánchez J, Linden DEJ, Rokicki J, Alnæs D, de Leeuw C, Thompson WK, Loughnan R, Fan CC, Westlye LT, Andreassen OA, Dale AM · PubMed 34910505

    ABSTRACT: The first genome-wide study of sulcal depth shows that it is highly genetically discoverable, associated with neurodevelopment. The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust yet understudied measure of localized folding, previously associated with multiple neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the multivariate omnibus statistical test (MOSTest) applied to vertex-wise measures from 33,748 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 × 10−8). Comparisons with corti

  • 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%

  • Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures - Nature communications (2025) · Jee YH, Wang Y, Jung KJ, Lee JY, Kimm H, Duan R, Price AL, Martin AR, Kraft P · PubMed 40436827

    ABSTRACT: Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and CD36. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotrop

  • Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis - Nature genetics (2024) · Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey DJ, Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S · PubMed 38632349

    ABSTRACT: We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One of these, PNPLA3 p.Ile148Met, interacts with alcohol intake, obesity and diabetes on the risk of cirrhosis and hepatocellular carcinoma (HCC). We develop a polygenic risk score that associates with the progression from cirrhosis to HCC. By focusing on prioritized genes from c

  • Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases* - Science (New York, N.Y.) (2022) · Makowski C, van der Meer D, Dong W, Wang H, Wu Y, Zou J, Liu C, Rosenthal SB, Hagler DJ, Fan CC, Kremen WS, Andreassen OA, Jernigan TL, Dale AM, Zhang K, Visscher PM, Yang J, Chen CH · PubMed 35113692

    ABSTRACT: To determine the impact of genetic variants on the brain, we used genetically-informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post-hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca's area which is important for speech, were enriched for human-specific genomic elements. Thu

  • Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology. - Biological psychiatry (2022) · van der Meer D, Shadrin AA, O'Connell K, Bettella F, Djurovic S, Wolfers T, Alnæs D, Agartz I, Smeland OB, Melle I, Sánchez JM, Linden DEJ, Dale AM, Westlye LT, Andreassen OA, Frei O, Kaufmann T · PubMed 35164939

    Schizophrenia is a complex polygenic disorder with subtle, distributed abnormalities in brain morphology. There are indications of shared genetic architecture between schizophrenia and brain measures despite low genetic correlations. Through the use of analytical methods that allow for mixed directions of effects, this overlap may be leveraged to improve our understanding of underlying mechanisms of schizophrenia and enrich polygenic risk prediction outcome. We ran a multivariate genome-wide analysis of 175 brain morphology measures using data from 33,735 participants of the UK Biobank and analyzed the results in a conditional false discovery rate together with schizophrenia genome-wide association study summary statistics of the Psychiatric Genomics Consortium (PGC) Wave 3. We subsequentl

  • Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology - NeuroImage (2022) · Shadrin AA, Kaufmann T, van der Meer D, Palmer CE, Makowski C, Loughnan R, Jernigan TL, Seibert TM, Hagler DJ, Smeland OB, Motazedi E, Chu Y, Lin A, Cheng W, Hindley G, Thompson WK, Fan CC, Holland D, Westlye LT, Frei O, Andreassen OA, Dale AM · PubMed 34560273

    ABSTRACT: Brain morphology has been shown to be highly heritable, yet only a small portion of the heritability is explained by the genetic variants discovered so far. Here we extended the Multivariate Omnibus Statistical Test (MOSTest) and applied it to genome-wide association studies (GWAS) of vertex-wise structural magnetic resonance imaging (MRI) cortical measures from N=35,657 participants in the UK Biobank. We identified 695 loci for cortical surface area and 539 for cortical thickness, in total 780 unique genetic loci associated with cortical morphology robustly replicated in 8,060 children of mixed ethnicity from the Adolescent Brain Cognitive Development (ABCD) Study®. This reflects more than 8-fold increase in genetic discovery at no cost to generalizability compared to the commo

  • Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes - Nature communications (2021) · Pazoki R, Vujkovic M, Elliott J, Evangelou E, Gill D, Ghanbari M, van der Most PJ, Pinto RC, Wielscher M, Farlik M, Zuber V, de Knegt RJ, Snieder H, Uitterlinden AG, Lynch JA, Jiang X, Said S, Kaplan DE, Lee KM, Serper M, Carr RM, Tsao PS, Atkinson SR, Dehghan A, Tzoulaki I, Ikram MA, Herzig KH, Järvelin MR, Alizadeh BZ, O'Donnell CJ, Saleheen D, Voight BF, Chang KM, Thursz MR, Elliott P · PubMed 33972514

    ABSTRACT: Serum concentration of hepatic enzymes are linked to liver dysfunction, metabolic and cardiovascular diseases. We perform genetic analysis on serum levels of alanine transaminase (ALT), alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) using data on 437,438 UK Biobank participants. Replication in 315,572 individuals from European descent from the Million Veteran Program, Rotterdam Study and Lifeline study confirms 517 liver enzyme SNPs. Genetic risk score analysis using the identified SNPs is strongly associated with serum activity of liver enzymes in two independent European descent studies (The Airwave Health Monitoring study and the Northern Finland Birth Cohort 1966). Gene-set enrichment analysis using the identified SNPs highlights involvement in liver developm

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