Genetic Predisposition to Disease

Displaying 1 - 48 of 48CSV
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
Publication Date
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
Publication Date
Mitchell, J., Camacho, N., Shea, P., Stopsack, K. H., Joseph, V., Burren, O. S., Dhindsa, R. S., Nag, A., Berchuck, J. E., O’Neill, A., Abbasi, A., Zoghbi, A. W., Alegre-Díaz, J., Kuri-Morales, P., Berumen, J., Tapia-Conyer, R., Emberson, J., Torres, J. M., Collins, R., … Fabre, M. A. (2025). Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56944-1
Publication Date
Guo, M. H., Lee, W.-P., Vardarajan, B., Schellenberg, G. D., & Phillips-Cremins, J. E. (2025). Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer’s disease. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56400-0
Publication Date
Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722
Publication Date
Simeone, C. A., McNulty, M. T., Gupta, Y., Genovese, G., Sampson, M. G., Sanna-Cherchi, S., Friedman, D. J., & Pollak, M. R. (2024). The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. G3: Genes, Genomes, Genetics. https://doi.org/10.1093/g3journal/jkae290
Publication Date
Yalcouyé, A., Schrauwen, I., Traoré, O., Bamba, S., Aboagye, E. T., Acharya, A., Bharadwaj, T., Latanich, R., Esoh, K., Fortes-Lima, C. A., de Kock, C., Jonas, M., Maiga, A. dit B., Cissé, C. A. K., Sangaré, M. A., Guinto, C. O., Landouré, G., Leal, S. M., & Wonkam, A. (2025). Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali. Human Genetics and Genomics Advances, 6(1), 100391. https://doi.org/10.1016/j.xhgg.2024.100391
Publication Date
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
Publication Date
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
Publication Date
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
Publication Date
Zuccaro, M. V., LeDuc, C. A., & Thaker, V. V. (2024). Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity. Current Obesity Reports, 13(3), 626–641. https://doi.org/10.1007/s13679-024-00567-y
Publication Date
Ma, Y., Reyes-Dumeyer, D., Piriz, A., Recio, P., Mejia, D. R., Medrano, M., Lantigua, R. A., Vonsattel, J. P. G., Tosto, G., Teich, A. F., Ciener, B., Leskinen, S., Sivakumar, S., DeTure, M., Ranjan, D., Dickson, D., Murray, M., Lee, E., Wolk, D. A., … Vardarajan, B. N. (2024). Epigenetic and genetic risk of Alzheimer disease from autopsied brains in two ethnic groups. Acta Neuropathologica, 148(1). https://doi.org/10.1007/s00401-024-02778-y
Publication Date
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
Publication Date
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
Publication Date
Wong, J. Y. Y., Blechter, B., Liu, Z., Shi, J., & Roger, V. L. (2024). Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length. Human Molecular Genetics, 33(14), 1262–1272. https://doi.org/10.1093/hmg/ddae063
Publication Date
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
Publication Date
Zanti, M., O’Mahony, D. G., Parsons, M. T., Li, H., Dennis, J., Aittomäkkiki, K., Andrulis, I. L., Anton-Culver, H., Aronson, K. J., Augustinsson, A., Becher, H., Bojesen, S. E., Bolla, M. K., Brenner, H., Brown, M. A., Buys, S. S., Canzian, F., Caputo, S. M., Castelao, J. E., … Michailidou, K. (2023). A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2. Human Mutation, 2023, 1–17. https://doi.org/10.1155/2023/9961341
Publication Date
Lewis, A. C. F., Chisholm, R. L., Connolly, J. J., Esplin, E. D., Glessner, J., Gordon, A., Green, R. C., Hakonarson, H., Harr, M., Holm, I. A., Jarvik, G. P., Karlson, E., Kenny, E. E., Kottyan, L., Lennon, N., Linder, J. E., Luo, Y., Martin, L. J., Perez, E., … Fullerton, S. M. (2024). Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. The American Journal of Human Genetics, 111(6), 999–1005. https://doi.org/10.1016/j.ajhg.2024.04.005
Publication Date
Abadie, V., Han, A. S., Jabri, B., & Sollid, L. M. (2024). New Insights on Genes, Gluten, and Immunopathogenesis of Celiac Disease. Gastroenterology, 167(1), 4–22. https://doi.org/10.1053/j.gastro.2024.03.042
Publication Date
Mosley, J. D., Shelley, J. P., Dickson, A. L., Zanussi, J., Daniel, L. L., Zheng, N. S., Bastarache, L., Wei, W.-Q., Shi, M., Jarvik, G. P., Rosenthal, E. A., Khan, A., Sherafati, A., Kullo, I. J., Walunas, T. L., Glessner, J., Hakonarson, H., Cox, N. J., Roden, D. M., … Kawai, V. K. (2024). Clinical associations with a polygenic predisposition to benign lower white blood cell counts. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-47804-5
Publication Date
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
Publication Date
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
Publication Date
Rehm, H. L., Alaimo, J. T., Aradhya, S., Bayrak-Toydemir, P., Best, H., Brandon, R., Buchan, J. G., Chao, E. C., Chen, E., Clifford, J., Cohen, A. S. A., Conlin, L. K., Das, S., Davis, K. W., del Gaudio, D., Del Viso, F., DiVincenzo, C., Eisenberg, M., Guidugli, L., … Rehm, H. (2023). The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in Medicine, 25(12), 100947. https://doi.org/10.1016/j.gim.2023.100947
Publication Date
Abul-Husn, N. S., Marathe, P. N., Kelly, N. R., Bonini, K. E., Sebastin, M., Odgis, J. A., Abhyankar, A., Brown, K., Di Biase, M., Gallagher, K. M., Guha, S., Ioele, N., Okur, V., Ramos, M. A., Rodriguez, J. E., Rehman, A. U., Thomas-Wilson, A., Edelmann, L., Zinberg, R. E., … Gelb, B. D. (2023). Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genetics in Medicine, 25(9), 100880. https://doi.org/10.1016/j.gim.2023.100880
Publication Date
Duenas, D. M., Riddle, L., Guerra, C., Caruncho, M., Lewis, H., Porter, K. M., Kraft, S. A., Anderson, K. P., Biesecker, B., Gilmore, M. J., Zepp, J. M., Leo, M. C., Wilfond, B. S., & Joseph, G. (2023). Refining a Multifaceted Model of Perceived Utility of Genomic Sequencing Results. Public Health Genomics, 135–144. Portico. https://doi.org/10.1159/000531782
Publication Date
Cullen, B., Gameroff, M. J., Ward, J., Bailey, M. E. S., Lyall, D. M., Lyall, L. M., MacSweeney, N., Murphy, E., Sangha, N., Shen, X., Strawbridge, R. J., van Dijk, M. T., Zhu, X., Smith, D. J., Talati, A., Whalley, H. C., Cavanagh, J., & Weissman, M. M. (2023). Cognitive Function in People With Familial Risk of Depression. JAMA Psychiatry, 80(6), 610. https://doi.org/10.1001/jamapsychiatry.2023.0716
Publication Date
Rajabli, F., Tosto, G., Hamilton‐Nelson, K. L., Kunkle, B. W., Vardarajan, B. N., Naj, A., Whitehead, P. G., Gardner, O. K., Bush, W. S., Sariya, S., Mayeux, R. P., Farrer, L. A., Cuccaro, M. L., Vance, J. M., Griswold, A. J., Schellenberg, G. D., Haines, J. L., Byrd, G. S., … Reitz, C. (2022). Admixture mapping identifies novel Alzheimer’s disease risk regions in African Americans. Alzheimer’s & Dementia, 19(6), 2538–2548. Portico. https://doi.org/10.1002/alz.12865
Publication Date
Zuraikat, F. M., Bauman, J. M., Setzenfand, M. N., Arukwe, D. U., Rolls, B. J., & Keller, K. L. (2023). Dimensions of sleep quality are related to objectively measured eating behaviors among children at high familial risk for obesity. Obesity, 31(5), 1216–1226. Portico. https://doi.org/10.1002/oby.23754
Publication Date
Beecham, A. H., Amezcua, L., Chinea, A., Manrique, C. P., Gomez, L., Martinez, A., Beecham, G. W., Patsopoulos, N. A., Chitnis, T., Weiner, H. L., De Jager, P. L., Burchard, E. G., Lund, B. T., Fitzgerald, K. C., Calabresi, P. A., Delgado, S. R., Oksenberg, J. R., & McCauley, J. L. (2022). Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population. PLOS ONE, 17(12), e0279132. https://doi.org/10.1371/journal.pone.0279132
Publication Date
Kanoni, S., Graham, S. E., Wang, Y., Surakka, I., Ramdas, S., Zhu, X., Clarke, S. L., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K.-H. H., Ntalla, I., Hui, Q., Klarin, D., Hilliard, A. T., Wang, Z., … Peloso, G. M. (2022). Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biology, 23(1). https://doi.org/10.1186/s13059-022-02837-1
Publication Date
Esposito, F., Osiceanu, A. M., Sorosina, M., Ottoboni, L., Bollman, B., Santoro, S., Bettegazzi, B., Zauli, A., Clarelli, F., Mascia, E., Calabria, A., Zacchetti, D., Capra, R., Ferrari, M., Provero, P., Lazarevic, D., Cittaro, D., Carrera, P., Patsopoulos, N., … Martinelli Boneschi, F. (2022). A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility. Genes, 13(12), 2392. https://doi.org/10.3390/genes13122392
Publication Date
Saunders, G. R. B., Wang, X., Chen, F., Jang, S.-K., Liu, M., Wang, C., Gao, S., Jiang, Y., Khunsriraksakul, C., Otto, J. M., Addison, C., Akiyama, M., Albert, C. M., Aliev, F., Alonso, A., Arnett, D. K., Ashley-Koch, A. E., Ashrani, A. A., Barnes, K. C., … Vrieze, S. (2022). Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature, 612(7941), 720–724. https://doi.org/10.1038/s41586-022-05477-4
Publication Date
Kim, W., Hecker, J., Barr, R. G., Boerwinkle, E., Cade, B., Correa, A., Dupuis, J., Gharib, S. A., Lange, L., London, S. J., Morrison, A. C., O’Connor, G. T., Oelsner, E. C., Psaty, B. M., Vasan, R. S., Redline, S., Rich, S. S., Rotter, J. I., … Yu, B. (2022). Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Human Molecular Genetics, 31(22), 3873–3885. https://doi.org/10.1093/hmg/ddac117
Publication Date
Mishra, A., Malik, R., Hachiya, T., Jürgenson, T., Namba, S., Posner, D. C., Kamanu, F. K., Koido, M., Le Grand, Q., Shi, M., He, Y., Georgakis, M. K., Caro, I., Krebs, K., Liaw, Y.-C., Vaura, F. C., Lin, K., Winsvold, B. S., Srinivasasainagendra, V., … Debette, S. (2022). Stroke genetics informs drug discovery and risk prediction across ancestries. Nature, 611(7934), 115–123. https://doi.org/10.1038/s41586-022-05165-3
Publication Date
Steffen, B. T., Pankow, J. S., Lutsey, P. L., Demmer, R. T., Misialek, J. R., Guan, W., Cowan, L. T., Coresh, J., Norby, F. L., & Tang, W. (2022). Proteomic profiling identifies novel proteins for genetic risk of severe COVID-19: the Atherosclerosis Risk in Communities Study. Human Molecular Genetics, 31(14), 2452–2461. https://doi.org/10.1093/hmg/ddac024
Publication Date
Burke, W., Parens, E., Chung, W. K., Berger, S. M., & Appelbaum, P. S. (2022). The Challenge of Genetic Variants of Uncertain Clinical Significance. Annals of Internal Medicine, 175(7), 994–1000. https://doi.org/10.7326/m21-4109
Publication Date
Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., & May, P. (2022). Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Epilepsia, 63(3), 723–735. Portico. https://doi.org/10.1111/epi.17166
Publication Date
Joo, Y. Y., Moon, S.-Y., Wang, H.-H., Kim, H., Lee, E.-J., Kim, J. H., Posner, J., Ahn, W.-Y., Choi, I., Kim, J.-W., & Cha, J. (2022). Association of Genome-Wide Polygenic Scores for Multiple Psychiatric and Common Traits in Preadolescent Youths at Risk of Suicide. JAMA Network Open, 5(2), e2148585. https://doi.org/10.1001/jamanetworkopen.2021.48585
Publication Date
Huffman, J. E., Butler-Laporte, G., Khan, A., Pairo-Castineira, E., Drivas, T. G., Peloso, G. M., Nakanishi, T., Ganna, A., Verma, A., Baillie, J. K., Kiryluk, K., Richards, J. B., & Zeberg, H. (2022). Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19. Nature Genetics, 54(2), 125–127. https://doi.org/10.1038/s41588-021-00996-8
Publication Date
Steers, N. J., Gupta, Y., D’Agati, V. D., Lim, T. Y., DeMaria, N., Mo, A., Liang, J., Stevens, K. O., Ahram, D. F., Lam, W. Y., Gagea, M., Nagarajan, L., Sanna-Cherchi, S., & Gharavi, A. G. (2022). GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2 Locus. Journal of the American Society of Nephrology, 33(1), 108–120. https://doi.org/10.1681/asn.2021040543
Publication Date
Farooqi, N., Metherell, L. A., Schrauwen, I., Acharya, A., Khan, Q., Nouel Saied, L. M., Ali, Y., El-Serehy, H. A., Jalil, F., & Leal, S. M. (2021). Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes, 12(12), 1915. https://doi.org/10.3390/genes12121915
Publication Date
Kehm, R. D., MacInnis, R. J., John, E. M., Liao, Y., Kurian, A. W., Genkinger, J. M., Knight, J. A., Colonna, S. V., Chung, W. K., Milne, R., Zeinomar, N., Dite, G. S., Southey, M. C., Giles, G. G., McLachlan, S.-A., Whitaker, K. D., Friedlander, M. L., Weideman, P. C., Glendon, G., … Terry, M. B. (2021). Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. JNCI Cancer Spectrum, 5(6). https://doi.org/10.1093/jncics/pkab090
Publication Date
Zoghbi, A. W., Dhindsa, R. S., Goldberg, T. E., Mehralizade, A., Motelow, J. E., Wang, X., Alkelai, A., Harms, M. B., Lieberman, J. A., Markx, S., & Goldstein, D. B. (2021). High-impact rare genetic variants in severe schizophrenia. Proceedings of the National Academy of Sciences, 118(51). https://doi.org/10.1073/pnas.2112560118
Publication Date
Roostaei, T., Klein, H.-U., Ma, Y., Felsky, D., Kivisäkk, P., Connor, S. M., Kroshilina, A., Yung, C., Kaskow, B. J., Shao, X., Rhead, B., Ordovás, J. M., Absher, D. M., Arnett, D. K., Liu, J., Patsopoulos, N., Barcellos, L. F., Weiner, H. L., & De Jager, P. L. (2021). Proximal and distal effects of genetic susceptibility to multiple sclerosis on the T cell epigenome. Nature Communications, 12(1). https://doi.org/10.1038/s41467-021-27427-w
Publication Date