Genome-Wide Association Study

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Kim, J., Williams, A., Noh, H., Jasper, E. A., Jones, S. H., Jaworski, J. A., Shuey, M. M., Ruiz-Narváez, E. A., Wise, L. A., Palmer, J. R., Connolly, J., Keaton, J. M., Denny, J. C., Khan, A., Abbass, M. A., Rasmussen-Torvik, L. J., Kottyan, L. C., Madhivanan, P., Krupp, K., … Hellwege, J. N. (2025). Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-57483-5
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Vialle, R. A., de Paiva Lopes, K., Li, Y., Ng, B., Schneider, J. A., Buchman, A. S., Wang, Y., Farfel, J. M., Barnes, L. L., Wingo, A. P., Wingo, T. S., Seyfried, N. T., De Jager, P. L., Gaiteri, C., Tasaki, S., & Bennett, D. A. (2025). Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits. Genome Medicine, 17(1). https://doi.org/10.1186/s13073-025-01444-6
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Li, X., Chen, H., Selvaraj, M. S., Van Buren, E., Zhou, H., Wang, Y., Sun, R., McCaw, Z. R., Yu, Z., Jiang, M.-Z., DiCorpo, D., Gaynor, S. M., Dey, R., Arnett, D. K., Benjamin, E. J., Bis, J. C., Blangero, J., Boerwinkle, E., Bowden, D. W., … Lin, X. (2025). A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nature Computational Science, 5(2), 125–143. https://doi.org/10.1038/s43588-024-00764-8
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Liu, H., Abedini, A., Ha, E., Ma, Z., Sheng, X., Dumoulin, B., Qiu, C., Aranyi, T., Li, S., Dittrich, N., Chen, H.-C., Tao, R., Tarng, D.-C., Hsieh, F.-J., Chen, S.-A., Yang, S.-F., Lee, M.-Y., Kwok, P.-Y., Wu, J.-Y., … Drivas, T. G. (2025). Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants. Science, 387(6734). https://doi.org/10.1126/science.adp4753
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Yao, M., Miller, G. W., Vardarajan, B. N., Baccarelli, A. A., Guo, Z., & Liu, Z. (2024). Deciphering proteins in Alzheimer’s disease: A new Mendelian randomization method integrated with AlphaFold3 for 3D structure prediction. Cell Genomics, 4(12), 100700. https://doi.org/10.1016/j.xgen.2024.100700
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Grodstein, F., Lemos, B., Yang, J., de Paiva Lopes, K., Vialle, R. A., Seyfried, N., Wang, Y., Shireby, G., Hannon, E., Thomas, A., Brookes, K., Mill, J., De Jager, P. L., & Bennett, D. A. (2024). Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in CD46 and other loci. Epigenetics, 19(1). https://doi.org/10.1080/15592294.2024.2392050
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Geng, J., Ruan, X., Wu, X., Chen, X., Fu, T., Gill, D., Burgess, S., Chen, J., Ludvigsson, J. F., Larsson, S. C., Li, X., Du, Z., & Yuan, S. (2024). Network Mendelian randomisation analysis deciphers protein pathways linking type 2 diabetes and gastrointestinal disease. Diabetes, Obesity and Metabolism. Portico. https://doi.org/10.1111/dom.16087
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García-Marín, L. M., Campos, A. I., Diaz-Torres, S., Rabinowitz, J. A., Ceja, Z., Mitchell, B. L., Grasby, K. L., Thorp, J. G., Agartz, I., Alhusaini, S., Ames, D., Amouyel, P., Andreassen, O. A., Arfanakis, K., Arias-Vasquez, A., Armstrong, N. J., Athanasiu, L., Bastin, M. E., Beiser, A. S., … Rentería, M. E. (2024). Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries. Nature Genetics, 56(11), 2333–2344. https://doi.org/10.1038/s41588-024-01951-z
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Qiao, L., Welch, C. L., Hernan, R., Wynn, J., Krishnan, U. S., Zalieckas, J. M., Buchmiller, T., Khlevner, J., De, A., Farkouh-Karoleski, C., Wagner, A. J., Heydweiller, A., Mueller, A. C., de Klein, A., Warner, B. W., Maj, C., Chung, D., McCulley, D. J., Schindel, D., … Chung, W. K. (2024). Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. The American Journal of Human Genetics, 111(11), 2362–2381. https://doi.org/10.1016/j.ajhg.2024.08.024
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Nho, K., Risacher, S. L., Apostolova, L. G., Bice, P. J., Brosch, J. R., Deardorff, R., Faber, K., Farlow, M. R., Foroud, T., Gao, S., Rosewood, T., Kim, J. P., Nudelman, K., Yu, M., Aisen, P., Sperling, R., Hooli, B., Shcherbinin, S., Svaldi, D., … Saykin, A. J. (2024). CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-52298-2
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Gunasekaran, T. I., Reyes‐Dumeyer, D., Faber, K. M., Goate, A., Boeve, B., Cruchaga, C., Pericak‐Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Mejia, D. R., Medrano, M., Lantigua, R. A., Sweet, R. A., Bennett, D. A., Wilson, R. S., Alba, C., Dalgard, C., Foroud, T., … Mayeux, R. (2024). Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer’s disease. Alzheimer’s & Dementia, 20(11), 7580–7594. Portico. https://doi.org/10.1002/alz.14221
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Ellis, C. A., Oliver, K. L., Harris, R. V., Ottman, R., Scheffer, I. E., Mefford, H. C., Epstein, M. P., Berkovic, S. F., & Bahlo, M. (2024). Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias. The American Journal of Human Genetics, 111(9), 1805–1809. https://doi.org/10.1016/j.ajhg.2024.07.014
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Kim, T. O., Geris, J. M., Flanagan, J. M., Grace, R. F., Lambert, M. P., O’Farrell, C., Rose, M. J., Shimano, K. A., Niss, O., Neunert, C., Nakano, T. A., MacMath, D., Dinu, B., Kirk, S. E., Neufeld, E. J., Despotovic, J. M., Scheurer, M. E., & Grimes, A. B. (2024). Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia. Blood Advances, 8(21), 5529–5538. https://doi.org/10.1182/bloodadvances.2024012776
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Parrish, R. L., Buchman, A. S., Tasaki, S., Wang, Y., Avey, D., Xu, J., De Jager, P. L., Bennett, D. A., Epstein, M. P., & Yang, J. (2024). SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50983-w
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Wang, C., Wang, T., Kiryluk, K., Wei, Y., Aschard, H., & Ionita-Laza, I. (2024). Genome-wide discovery for biomarkers using quantile regression at biobank scale. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50726-x
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Verma, A., Huffman, J. E., Rodriguez, A., Conery, M., Liu, M., Ho, Y.-L., Kim, Y., Heise, D. A., Guare, L., Panickan, V. A., Garcon, H., Linares, F., Costa, L., Goethert, I., Tipton, R., Honerlaw, J., Davies, L., Whitbourne, S., Cohen, J., … Liao, K. P. (2024). Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science, 385(6706). https://doi.org/10.1126/science.adj1182
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Taylor, B., Zhao, Y., Perez, N. B., Potts-Thompson, S., Crusto, C., Creber, R. M., & Taylor, J. Y. (2024). Epigenome-Wide Association Study of Depressive Symptoms in Black Women in the InterGEN Study. International Journal of Molecular Sciences, 25(14), 7681. https://doi.org/10.3390/ijms25147681
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Columbia Affiliation
Manzoni, C., Kia, D. A., Ferrari, R., Leonenko, G., Costa, B., Saba, V., Jabbari, E., Tan, M. MX., Albani, D., Alvarez, V., Alvarez, I., Andreassen, O. A., Angiolillo, A., Arighi, A., Baker, M., Benussi, L., Bessi, V., Binetti, G., Blackburn, D. J., … Escott-Price, V. (2024). Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. The American Journal of Human Genetics, 111(7), 1316–1329. https://doi.org/10.1016/j.ajhg.2024.05.017
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Chia, R., Ray, A., Shah, Z., Ding, J., Ruffo, P., Fujita, M., Menon, V., Saez-Atienzar, S., Reho, P., Kaivola, K., Walton, R. L., Reynolds, R. H., Karra, R., Sait, S., Akcimen, F., Diez-Fairen, M., Alvarez, I., Fanciulli, A., Stefanova, N., … Scholz, S. W. (2024). Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron, 112(13), 2142-2156.e5. https://doi.org/10.1016/j.neuron.2024.04.002
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Hrytsenko, Y., Shea, B., Elgart, M., Kurniansyah, N., Lyons, G., Morrison, A. C., Carson, A. P., Haring, B., Mitchell, B. D., Psaty, B. M., Jaeger, B. C., Gu, C. C., Kooperberg, C., Levy, D., Lloyd-Jones, D., Choi, E., Brody, J. A., Smith, J. A., Rotter, J. I., … Sofer, T. (2024). Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-62945-9
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Hudgins, A. D., Zhou, S., Arey, R. N., Rosenfeld, M. G., Murphy, C. T., & Suh, Y. (2024). A systems biology-based identification and in vivo functional screening of Alzheimer’s disease risk genes reveal modulators of memory function. Neuron, 112(13), 2112-2129.e4. https://doi.org/10.1016/j.neuron.2024.04.009
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Wang, Y., Sarnowski, C., Lin, H., Pitsillides, A. N., Heard‐Costa, N. L., Choi, S. H., Wang, D., Bis, J. C., Blue, E. E., Boerwinkle, E., De Jager, P. L., Fornage, M., Wijsman, E. M., Seshadri, S., Dupuis, J., Peloso, G. M., & DeStefano, A. L. (2024). Key variants via the Alzheimer’s Disease Sequencing Project whole genome sequence data. Alzheimer’s & Dementia, 20(5), 3290–3304. Portico. https://doi.org/10.1002/alz.13705
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Seo, J., Gaddis, N. C., Patchen, B. K., Xu, J., Barr, R. G., O’Connor, G., Manichaikul, A. W., Gharib, S. A., Dupuis, J., North, K. E., Cassano, P. A., & Hancock, D. B. (2024). Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function. The American Journal of Clinical Nutrition, 119(5), 1227–1237. https://doi.org/10.1016/j.ajcnut.2024.03.007
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Hassan, M. M., Li, D., Han, Y., Byun, J., Hatia, R. I., Long, E., Choi, J., Kelley, R. K., Cleary, S. P., Lok, A. S., Bracci, P., Permuth, J. B., Bucur, R., Yuan, J.-M., Singal, A. G., Jalal, P. K., Ghobrial, R. M., Santella, R. M., Kono, Y., … Amos, C. I. (2024). Genome-wide association study identifies high-impact susceptibility loci for HCC in North America. Hepatology, 80(1), 87–101. https://doi.org/10.1097/hep.0000000000000800
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Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, H. J., Yin, X., Lorenz, K. M., Mandla, R., Huerta-Chagoya, A., Melloni, G. E. M., Kanoni, S., Rayner, N. W., Bocher, O., Arruda, A. L., Sonehara, K., Namba, S., Lee, S. S. K., Preuss, M. H., Petty, L. E., … Schroeder, P. (2024). Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature, 627(8003), 347–357. https://doi.org/10.1038/s41586-024-07019-6
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Mei, H., Simino, J., Li, L., Jiang, F., Bis, J. C., Davies, G., Hill, W. D., Xia, C., Gudnason, V., Yang, Q., Lahti, J., Smith, J. A., Kirin, M., De Jager, P., Armstrong, N. J., Ghanbari, M., Kolcic, I., Moran, C., Teumer, A., … Mosley, T. H. (2024). Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimer’s Research & Therapy, 16(1). https://doi.org/10.1186/s13195-023-01376-6
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Bradfield, J. P., Kember, R. L., Ulrich, A., Balkhiyarova, Z., Alyass, A., Aris, I. M., Bell, J. A., Broadaway, K. A., Chen, Z., Chai, J.-F., Davies, N. M., Fernandez-Orth, D., Bustamante, M., Fore, R., Ganguli, A., Heiskala, A., Hottenga, J.-J., Íñiguez, C., … Kobes, S. (2024). Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes. Genome Biology, 25(1). https://doi.org/10.1186/s13059-023-03136-z
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Meng, X., Navoly, G., Giannakopoulou, O., Levey, D. F., Koller, D., Pathak, G. A., Koen, N., Lin, K., Adams, M. J., Rentería, M. E., Feng, Y., Gaziano, J. M., Stein, D. J., Zar, H. J., Campbell, M. L., van Heel, D. A., Trivedi, B., Finer, S., … McQuillin, A. (2024). Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference. Nature Genetics, 56(2), 222–233. https://doi.org/10.1038/s41588-023-01596-4
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Verma, S. S., Gudiseva, H. V., Chavali, V. R. M., Salowe, R. J., Bradford, Y., Guare, L., Lucas, A., Collins, D. W., Vrathasha, V., Nair, R. M., Rathi, S., Zhao, B., He, J., Lee, R., Zenebe-Gete, S., Bowman, A. S., McHugh, C. P., Zody, M. C., Pistilli, M., … O’Brien, J. M. (2024). A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell, 187(2), 464-480.e10. https://doi.org/10.1016/j.cell.2023.12.006
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Zeng, L., Fujita, M., Gao, Z., White, C. C., Green, G. S., Habib, N., Menon, V., Bennett, D. A., Boyle, P., Klein, H.-U., & De Jager, P. L. (2024). A Single-Nucleus Transcriptome-Wide Association Study Implicates Novel Genes in Depression Pathogenesis. Biological Psychiatry, 96(1), 34–43. https://doi.org/10.1016/j.biopsych.2023.12.012
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Stefanucci, L., Collins, J., Sims, M. C., Barrio-Hernandez, I., Sun, L., Burren, O. S., Perfetto, L., Bender, I., Callahan, T. J., Fleming, K., Guerrero, J. A., Hermjakob, H., Martin, M. J., Stephenson, J., Paneerselvam, K., Petrovski, S., Porras, P., Robinson, P. N., Wang, Q., … Vuckovic, D. (2023). The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants. Blood, 142(24), 2055–2068. https://doi.org/10.1182/blood.2023020118
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Naderi, E., Aguado-Barrera, M. E., Schack, L. M. H., Dorling, L., Rattay, T., Fachal, L., Summersgill, H., Martínez-Calvo, L., Welsh, C., Dudding, T., Odding, Y., Varela-Pazos, A., Jena, R., Thomson, D. J., Steenbakkers, R. J. H. M., Dennis, J., Lobato-Busto, R., Alsner, J., … Ness, A. (2023). Large-scale meta–genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types. JNCI Cancer Spectrum, 7(6). https://doi.org/10.1093/jncics/pkad088
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Kang, M., Ang, T. F. A., Devine, S. A., Sherva, R., Mukherjee, S., Trittschuh, E. H., Gibbons, L. E., Scollard, P., Lee, M., Choi, S.-E., Klinedinst, B., Nakano, C., Dumitrescu, L. C., Durant, A., Hohman, T. J., Cuccaro, M. L., Saykin, A. J., Kukull, W. A., Bennett, D. A., … Farrer, L. A. (2023). A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores. Molecular Neurodegeneration, 18(1). https://doi.org/10.1186/s13024-023-00633-4
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Kim, K., Jun, T.-H., Ha, B.-K., Wang, S., & Sun, H. (2023). New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits. BMC Bioinformatics, 24(1). https://doi.org/10.1186/s12859-023-05505-8
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Barry, A., McNulty, M. T., Jia, X., Gupta, Y., Debiec, H., Luo, Y., Nagano, C., Horinouchi, T., Jung, S., Colucci, M., Ahram, D. F., Mitrotti, A., Sinha, A., Teeninga, N., Jin, G., Shril, S., Caridi, G., Bodria, M., Lim, T. Y., … Sampson, M. G. (2023). Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nature Communications, 14(1). https://doi.org/10.1038/s41467-023-37985-w
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Liu, M., Khasiyev, F., Sariya, S., Spagnolo‐Allende, A., Sanchez, D. L., Andrews, H., Yang, Q., Beiser, A., Qiao, Y., Thomas, E. A., Romero, J. R., Rundek, T., Brickman, A. M., Manly, J. J., Elkind, M. S., Seshadri, S., Chen, C., Hilal, S., Wasserman, B. A., … Gutierrez, J. (2023). Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome‐Wide Association Study. Journal of the American Heart Association, 12(23). https://doi.org/10.1161/jaha.123.030935
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Koellinger, P. D., Okbay, A., Kweon, H., Schweinert, A., Linnér, R. K., Goebel, J., Richter, D., Reiber, L., Zweck, B. M., Belsky, D. W., Biroli, P., Mata, R., Tucker-Drob, E. M., Harden, K. P., Wagner, G., & Hertwig, R. (2023). Cohort profile: Genetic data in the German Socio-Economic Panel Innovation Sample (SOEP-G). PLOS ONE, 18(11), e0294896. https://doi.org/10.1371/journal.pone.0294896
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Yang, Z., Cieza, B., Reyes-Dumeyer, D., Montesinos, R., Soto-Añari, M., Custodio, N., & Tosto, G. (2023). A benchmark study on current GWAS models in admixed populations. Briefings in Bioinformatics, 25(1). https://doi.org/10.1093/bib/bbad437
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Wootton, O., Shadrin, A. A., Mohn, C., Susser, E., Ramesar, R., Gur, R. C., Andreassen, O. A., Stein, D. J., & Dalvie, S. (2023). Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability. Molecular Psychiatry, 28(9), 4011–4019. https://doi.org/10.1038/s41380-023-02292-9
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Yan, Q., Guerrero, R. F., Khan, R. R., Surujnarine, A. A., Wapner, R. J., Hahn, M. W., Raja, A., Salleb-Aouissi, A., Grobman, W. A., Simhan, H., Blue, N. R., Silver, R., Chung, J. H., Reddy, U. M., Radivojac, P., Pe’er, I., & Haas, D. M. (2023). Searching and visualizing genetic associations of pregnancy traits by using GnuMoM2b. GENETICS, 225(2). https://doi.org/10.1093/genetics/iyad151
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Docherty, A. R., Mullins, N., Ashley-Koch, A. E., Qin, X., Coleman, J. R. I., Shabalin, A., Kang, J., Murnyak, B., Wendt, F., Adams, M., Campos, A. I., DiBlasi, E., Fullerton, J. M., Kranzler, H. R., Bakian, A. V., Monson, E. T., Rentería, M. E., Walss-Bass, C., … Andreassen, O. A. (2023). GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors. American Journal of Psychiatry, 180(10), 723–738. https://doi.org/10.1176/appi.ajp.21121266
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Moll, M., Peljto, A. L., Kim, J. S., Xu, H., Debban, C. L., Chen, X., Menon, A., Putman, R. K., Ghosh, A. J., Saferali, A., Nishino, M., Hatabu, H., Hobbs, B. D., Hecker, J., McDermott, G., Sparks, J. A., Wain, L. V., Allen, R. J., Tobin, M. D., … Cho, M. H. (2023). A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities. American Journal of Respiratory and Critical Care Medicine, 208(7), 791–801. https://doi.org/10.1164/rccm.202212-2257oc
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Sugden, K., Moffitt, T. E., Arpawong, T. E., Arseneault, L., Belsky, D. W., Corcoran, D. L., Crimmins, E. M., Hannon, E., Houts, R., Mill, J. S., Poulton, R., Ramrakha, S., Wertz, J., Williams, B. S., & Caspi, A. (2023). Cross-National and Cross-Generational Evidence That Educational Attainment May Slow the Pace of Aging in European-Descent Individuals. The Journals of Gerontology: Series B, 78(8), 1375–1385. https://doi.org/10.1093/geronb/gbad056
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Lloyd, E. C., Reed, Z. E., & Wootton, R. E. (2021). The absence of association between anorexia nervosa and smoking: converging evidence across two studies. European Child & Adolescent Psychiatry, 32(7), 1229–1240. https://doi.org/10.1007/s00787-021-01918-z
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Bhatraju, P. K., Stanaway, I. B., Palmer, M. R., Menon, R., Schaub, J. A., Menez, S., Srivastava, A., Wilson, F. P., Kiryluk, K., Palevsky, P. M., Naik, A. S., Sakr, S. S., Jarvik, G. P., Parikh, C. R., Ware, L. B., Ikizler, T. A., Siew, E. D., Chinchilli, V. M., Coca, S. G., … Wurfel, M. M. (2023). Genome-wide Association Study for AKI. Kidney360, 4(7), 870–880. https://doi.org/10.34067/kid.0000000000000175
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