606 results on '"McCartney, Daniel"'
Search Results
2. Mental illness and COVID-19 vaccination: a multinational investigation of observational & register-based data
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Barker, Mary M., Kõiv, Kadri, Magnúsdóttir, Ingibjörg, Milbourn, Hannah, Wang, Bin, Du, Xinkai, Murphy, Gillian, Herweijer, Eva, Gísladóttir, Elísabet U., Li, Huiqi, Lovik, Anikó, Kähler, Anna K., Campbell, Archie, Feychting, Maria, Hauksdóttir, Arna, Joyce, Emily E., Thordardottir, Edda Bjork, Frans, Emma M., Hoffart, Asle, Mägi, Reedik, Tómasson, Gunnar, Ásbjörnsdóttir, Kristjana, Jakobsdóttir, Jóhanna, Andreassen, Ole A., Sullivan, Patrick F., Johnson, Sverre Urnes, Aspelund, Thor, Brandlistuen, Ragnhild Eek, Ask, Helga, McCartney, Daniel L., Ebrahimi, Omid V., Lehto, Kelli, Valdimarsdóttir, Unnur A., Nyberg, Fredrik, and Fang, Fang
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- 2024
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3. DNAm scores for serum GDF15 and NT-proBNP levels associate with a range of traits affecting the body and brain
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Gadd, Danni A., Smith, Hannah M., Mullin, Donncha, Chybowska, Ola, Hillary, Robert F., Kimenai, Dorien M., Bernabeu, Elena, Cheng, Yipeng, Fawns-Ritchie, Chloe, Campbell, Archie, Page, Danielle, Taylor, Adele, Corley, Janie, Del C. Valdés-Hernández, Maria, Maniega, Susana Muñoz, Bastin, Mark E., Wardlaw, Joanna M., Walker, Rosie M., Evans, Kathryn L., McIntosh, Andrew M., Hayward, Caroline, Russ, Tom C., Harris, Sarah E., Welsh, Paul, Sattar, Naveed, Cox, Simon R., McCartney, Daniel L., and Marioni, Riccardo E.
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- 2024
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4. A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
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Jermy, Bradley, Läll, Kristi, Wolford, Brooke N., Wang, Ying, Zguro, Kristina, Cheng, Yipeng, Kanai, Masahiro, Kanoni, Stavroula, Yang, Zhiyu, Hartonen, Tuomo, Monti, Remo, Wanner, Julian, Youssef, Omar, Lippert, Christoph, van Heel, David, Okada, Yukinori, McCartney, Daniel L., Hayward, Caroline, Marioni, Riccardo E., Furini, Simone, Renieri, Alessandra, Martin, Alicia R., Neale, Benjamin M., Hveem, Kristian, Mägi, Reedik, Palotie, Aarno, Heyne, Henrike, Mars, Nina, Ganna, Andrea, and Ripatti, Samuli
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- 2024
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5. Epigenetic scores of blood-based proteins as biomarkers of general cognitive function and brain health
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Smith, Hannah M., Moodie, Joanna E., Monterrubio-Gómez, Karla, Gadd, Danni A., Hillary, Robert F., Chybowska, Aleksandra D., McCartney, Daniel L., Campbell, Archie, Redmond, Paul, Page, Danielle, Taylor, Adele, Corley, Janie, Harris, Sarah E., Valdés Hernández, Maria, Muñoz Maniega, Susana, Bastin, Mark E., Wardlaw, Joanna M., Deary, Ian J., Boardman, James P., Mullin, Donncha S., Russ, Tom C., Cox, Simon R., and Marioni, Riccardo E.
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- 2024
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6. DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood.
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Hahn, Julie, Bressler, Jan, Domingo-Relloso, Arce, Chen, Ming-Huei, McCartney, Daniel, Teumer, Alexander, van Dongen, Jenny, Kleber, Marcus, Aïssi, Dylan, Swenson, Brenton, Yao, Jie, Zhao, Wei, Huang, Jian, Xia, Yujing, Brown, Michael, Costeira, Ricardo, de Geus, Eco, Delgado, Graciela, Dobson, DreVon, Elliott, Paul, Grabe, Hans, Guo, Xiuqing, Harris, Sarah, Huffman, Jennifer, Kardia, Sharon, Liu, Yongmei, Lorkowski, Stefan, Marioni, Riccardo, Nauck, Matthias, Ratliff, Scott, Sabater-Lleal, Maria, Spector, Tim, Suchon, Pierre, Taylor, Kent, Thibord, Florian, Trégouët, David-Alexandre, Wiggins, Kerri, Willemsen, Gonneke, Bell, Jordana, Boomsma, Dorret, Cole, Shelley, Cox, Simon, Dehghan, Abbas, Greinacher, Andreas, Haack, Karin, März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome, Sotoodehnia, Nona, Tellez-Plaza, Maria, Navas-Acien, Ana, Smith, Jennifer, Johnson, Andrew, Fornage, Myriam, Smith, Nicholas, Wolberg, Alisa, Morrison, Alanna, and de Vries, Paul
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DNA methylation ,Mendelian randomization ,epigenome-wide association study ,fibrinogen ,inflammation ,Humans ,DNA Methylation ,Epigenesis ,Genetic ,Genome-Wide Association Study ,Genetic Loci ,Inflammation ,Fibrinogen ,CpG Islands - Abstract
BACKGROUND: Fibrinogen plays an essential role in blood coagulation and inflammation. Circulating fibrinogen levels may be determined based on interindividual differences in DNA methylation at cytosine-phosphate-guanine (CpG) sites and vice versa. OBJECTIVES: To perform an EWAS to examine an association between blood DNA methylation levels and circulating fibrinogen levels to better understand its biological and pathophysiological actions. METHODS: We performed an epigenome-wide association study of circulating fibrinogen levels in 18 037 White, Black, American Indian, and Hispanic participants, representing 14 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Circulating leukocyte DNA methylation was measured using the Illumina 450K array in 12 904 participants and using the EPIC array in 5133 participants. In each study, an epigenome-wide association study of fibrinogen was performed using linear mixed models adjusted for potential confounders. Study-specific results were combined using array-specific meta-analysis, followed by cross-replication of epigenome-wide significant associations. We compared models with and without CRP adjustment to examine the role of inflammation. RESULTS: We identified 208 and 87 significant CpG sites associated with fibrinogen levels from the 450K (p < 1.03 × 10-7) and EPIC arrays (p < 5.78 × 10-8), respectively. There were 78 associations from the 450K array that replicated in the EPIC array and 26 vice versa. After accounting for overlapping sites, there were 83 replicated CpG sites located in 61 loci, of which only 4 have been previously reported for fibrinogen. The examples of genes located near these CpG sites were SOCS3 and AIM2, which are involved in inflammatory pathways. The associations of all 83 replicated CpG sites were attenuated after CRP adjustment, although many remained significant. CONCLUSION: We identified 83 CpG sites associated with circulating fibrinogen levels. These associations are partially driven by inflammatory pathways shared by both fibrinogen and CRP.
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- 2023
7. Impact of the COVID-19 lockdown on the vitamin D status of people in the West of Ireland
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O’Sullivan, Maria, Moran, Caoimhe, Griffin, Tomás P., Doheny, Helen, McCartney, Daniel MA., and O’Shea, Paula M.
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- 2024
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8. DNA methylation-based predictors of metabolic traits in Scottish and Singaporean cohorts
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Smith, Hannah M., Ng, Hong Kiat, Moodie, Joanna E., Gadd, Danni A., McCartney, Daniel L., Bernabeu, Elena, Campbell, Archie, Redmond, Paul, Taylor, Adele, Page, Danielle, Corley, Janie, Harris, Sarah E., Tay, Darwin, Deary, Ian J., Evans, Kathryn L., Robinson, Matthew R., Chambers, John C., Loh, Marie, Cox, Simon R., Marioni, Riccardo E., and Hillary, Robert F.
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- 2025
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9. Incidence of diabetes after SARS-CoV-2 infection in England and the implications of COVID-19 vaccination: a retrospective cohort study of 16 million people
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Al Arab, Marwa, Almaghrabi, Fatima, Andrews, Colm, Badrick, Ellena, Baz, Sarah, Beckford, Chelsea, Berman, Samantha, Bolton, Tom, Booth, Charlotte, Bowyer, Ruth, Boyd, Andy, Bridger-Staatz, Charis, Brophy, Sinead, Campbell, Archie, Campbell, Kirsteen C, Carnemolla, Alisia, Carpentieri, Jd, Cezard, Genevieve, Chaturvedi, Nishi, Cheetham, Nathan, Costello, Ruth, Cowling, Thomas, Crane, Matthew, Cuitun Coronado, Jose Ignacio, Curtis, Helen, Denaxas, Spiros, Denholm, Rachel, Di Gessa, Giorgio, Dobson, Richard, Douglas, Ian, Evans, Katharine M, Fang, Chao, Ferreira, Vanessa, Finnigan, Lucy, Fisher, Louis, Flaig, Robin, Folarin, Amos, Forbes, Harriet, Foster, Diane, Fox, Laura, Freydin, Maxim, Garcia, Paz, Gibson, Andy, Glen, Fiona, Goldacre, Ben, Goncalves Soares, Ana, Greaves, Felix, Green, Amelia, Green, Mark, Green, Michael, Griffith, Gareth, Hamill Howes, Lee, Hamilton, Olivia, Herbet, Annie, Herrett, Emily, Hopcroft, Lisa, Horne, Elsie, Hou, Bo, Hughes, Alun, Hulme, William, Huntley, Lizzie, Ip, Samantha, Jacques, Wels, Jezzard, Peter, Jones, Louise, Kanagaratnam, Arun, Karthikeyan Suseeladevi, Arun, Katikireddi, Vittal, Kellas, John, Kennedy, Jonathan I, Kibble, Milla, Knight, Rochelle, Knueppel, Anika, Kopasker, Daniel, Kromydas, Theocharis, Kwong, Alex, Langan, Sinead, Lemanska, Agnieszka, Lukaschuk, Elena, Mackenna, Brain, Macleod, John, Maddock, Jane, Mahalingasivam, Viyaasan, Mansfield, Kathryn, McArdle, Fintan, McCartney, Daniel, McEachan, Rosie, McElroy, Eoin, McLachlan, Stela, Mitchell, Ruth, Moltrecht, Bettina, Morley, Jess, Nab, Linda, Neubauer, Stefan, Nigrelli, Lidia, North, Teri, Northstone, Kate, Oakley, Jacqui, Palmer, Tom, Park, Chloe, Parker, Michael, Parsons, Sam, Patalay, Praveetha, Patel, Kishan, Perez-Reche, Francisco, Piechnik, Stefan, Piehlmaier, Dominik, Ploubidis, George, Rafeti, Elena, Raman, Betty, Ranjan, Yatharth, Rapala, Alicja, Rhead, Rebecca, Roberts, Amy, Sampri, Alexia, Sanders, Zeena-Britt, Santorelli, Gillian, Saunders, Laura C, Shah, Anoop, Shah, Syed Ahmar, Sharp, Steve, Shaw, Richard, Sheard, Laura, Sheikh, Aziz, Silverwood, Richard, Smeeth, Liam, Smith, Stephen, Stafford, Jean, Steptoe, Andrew, Sterne, Jonathan, Steves, Claire, Stewart, Callum, Taylor, Kurt, Tazare, John, Teece, Lucy, Thomas, Richard, Thompson, Ellen, Tilling, Kate, Timpson, Nicholas, Tomlinson, Laurie, Toms, Renin, Tunnicliffe, Elizabeth, Turner, Emma L, Walker, Alex, Walker, Venexia, Walter, Scott, Wang, Kevin, Wei, Yinghui, Whitehorn, Rebecca, Wielgoszewska, Bozena, Wild, James M, Willan, Kathryn, Willans, Robert, Williams, Dylan, Wong, Andrew, Wood, Angela, Woodward, Hannah, Wright, John, Yang, Tiffany, Zaninotto, Paola, Zheng, Bang, Zhu, Jingmin, Eastwood, Sophie, Horne, Elsie M F, Massey, Jon, Hopcroft, Lisa E M, Cuitun Coronado, Jose, Davy, Simon, Dillingham, Iain, Morton, Caroline, and Sterne, Jonathan A C
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- 2024
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10. Sexually Transmitted Infections (Excluding HIV)
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Mayaud, Philippe, primary, McCartney, Daniel J., additional, Ong, Jason J., additional, and Mabey, David C.w., additional
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- 2024
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11. CONTRIBUTORS
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Abahuje, Egide, primary, Abrahim, Orit, additional, Adetifa, Ifedayo M.O., additional, Ajjampur, Sitara S.R., additional, Alexander, Suceena, additional, PhD, Chiara Altare,, additional, Alves, Fabiana, additional, Andrianaivoarimanana, Voahangy, additional, Angelakis, Emmanouil, additional, Aronson, Jeffrey K., additional, Atukorala, Inoshi G., additional, Baily, Guy, additional, Baker, Stephen, additional, Barrett, Alan D.T., additional, Basnyat, Buddha, additional, Bastawrous, Andrew, additional, Bates, Imelda, additional, Bausch, Daniel G., additional, Baxter, Cheryl, additional, Beare, Nicholas A.V., additional, Beeching, Nick J., additional, Bekker, Linda-Gail, additional, Berlin, Anita, additional, FRS, Zulfiqar A. Bhutta, additional, Bloom, David E., additional, Blumberg, Lucille, additional, Boelaert, Marleen, additional, Brett-Major, David, additional, Brooker, Simon J., additional, Brouwer, Matthijs C., additional, Brunetti, Enrico, additional, Bull, Susan, additional, Bundy, Donald A.P., additional, Burri, Christian, additional, Bustinduy, Amaya L., additional, Caillet, Céline, additional, Chai, Jong Yil, additional, Chang, Thashi, additional, Chappuis, François, additional, Chibi, Buyisile, additional, Chiodini, Peter L., additional, Chowdhury, Rajiv, additional, Chowdhury, Sudipta Dhar, additional, Clemens, John D., additional, Cooke, Graham S., additional, Cotton, Mark F., additional, Currie, Bart J., additional, Cusack, Tomas-Paul, additional, Dance, David A.B., additional, Davis, Emily H., additional, Day, Nicholas P.J., additional, Deen, Jacqueline, additional, Dondorp, Arjen M., additional, Dünser, Martin W., additional, Eitzen, Edward, additional, Chebib, Hassan El, additional, Enria, Delia, additional, Faust, Christina, additional, Fekadu, Abebaw, additional, Fink, Günther, additional, Fischer, Peter U., additional, Fletcher, Tom, additional, Franco-Paredes, Carlos, additional, French, Neil, additional, Frumkin, Howard, additional, Garcia, Hector H., additional, Gerada, Alessandro, additional, Glass, Roger I., additional, Gordon, Stephen B., additional, Gottstein, Bruno, additional, Goyal, Alpesh, additional, Grey, Jonathan, additional, Gupta, Yashdeep, additional, Haines, Andy, additional, Hampson, Katie, additional, Hanlon, Charlotte, additional, Harrison, Mark, additional, Haswell, Melissa R., additional, Hawkesworth, Sophie, additional, Hay, Roderick J., additional, Heckmann, Jeannine M., additional, Heimesaat, Markus M., additional, Henao-Martínez, Andrés F., additional, Hien, Tran Tinh, additional, Hoerauf, Achim, additional, Irfan, Omar, additional, PhD, Euzebiusz Jamrozik, additional, Jobe, Modou, additional, John, George T., additional, Jones, Nick K., additional, Jones, Malcolm K., additional, Junghanss, Thomas, additional, Kaewkes, Sasithorn, additional, Karim, Quarraisha Abdool, additional, Keiser, Jennifer, additional, Kelly, Paul, additional, Khan, Amira M., additional, King, Charles H., additional, Kishore, Sandeep P., additional, Lang, Trudie, additional, Le, Thuy, additional, Liesenfeld, Oliver, additional, Lockwood, Diana N.J., additional, Mabey, David C.W., additional, Madkour, M. Monir, additional, Manesh, Abi, additional, Masekela, Refiloe, additional, Mäser, Pascal, additional, Mayaud, Philippe, additional, Mbanya, Dora, additional, McCarthy, James S., additional, McCartney, Daniel J., additional, McGready, Rose, additional, McKee, Martin, additional, Mc, Namara, Paul S., additional, Meara, John G., additional, Meintjes, Graeme, additional, Merson, Laura, additional, Mola, Glen, additional, Morassutti, Alessandra L., additional, Morris-Jones, Rachael, additional, Mortimer, Kevin J., additional, Muliyil, Divya Elizabeth, additional, Mumcuoglu, Kosta Y., additional, Munoz, Flor M., additional, Murphy, Adrianna, additional, Mutabingwa, Theonest, additional, Nawa, Yukifumi, additional, Newton, Paul N., additional, Nightingale, Sam, additional, Nokes, D. James, additional, Nosten, François H., additional, O’Hea, Jennifer, additional, Olliaro, Piero, additional, Ong, Jason J., additional, Oommen, Anu Mary, additional, Parashar, Umesh D., additional, Paris, Daniel H., additional, Parker, Michael, additional, Pluschke, Gerd, additional, Preidis, Geoffrey A., additional, Prentice, Andrew M., additional, Quail, Geoffrey, additional, Quinn, Thomas C., additional, Rabie, Helena, additional, Rajashekharaiah, Harsha, additional, Rajerison, Minoarisoa, additional, Ranganathan, Kannan, additional, Raoult, Didier, additional, Rassi,, Anis, additional, Ravi, Vasanthapuram, additional, Reddy, K. Srinath, additional, Rees, Claire, additional, Reynolds, Steven J., additional, Richter, Joachim, additional, Rijken, Marcus J., additional, Riviello, Robert, additional, Robinson, Janet, additional, Salazar, Juan C., additional, Schultz, Marcus J., additional, Schwarz, Dan, additional, Sendagire, Ibrahim, additional, Sharma, Savitri, additional, Shawon, Shajedur Rahman, additional, Singh, Bhagteshwar, additional, Sithithaworn, Paiboon, additional, Siwila, Joyce, additional, Solomon, Tom, additional, Spiegel, Paul, additional, Sridhar, Devi, additional, Sripa, Banchob, additional, Srour, M. Leila, additional, Stojković, Marija, additional, Strader, Christopher, additional, Suárez, Jose A., additional, Sundar, Shyam, additional, Tamarozzi, Francesca, additional, Tandon, Nikhil, additional, Tate, Jacqueline E., additional, Thachil, Jecko, additional, Thomson, Madeleine C., additional, Thwaites, Guy, additional, Thwaites, C. Louise, additional, van Daalen, Kim R., additional, Beek, Diederik van de, additional, van Doorn, H. Rogier, additional, Vega-Lopez, Francisco, additional, von Seidlein, MD, PhD, Lorenz, additional, Wakeham, Katie, additional, Walker, Stephen L., additional, Wallace, Ryan M., additional, Ward, Honorine, additional, Warrell, David A., additional, Weber, Tim Frederik, additional, Weil, Gary J., additional, White, Nicholas J., additional, White, MB Ch, B, Graham B., additional, Wong, Vanessa, additional, Wood, Robin, additional, Wood, Georgina, additional, Wyllie, Sarah, additional, Yacoub, Sophie, additional, Yen, Lam Minh, additional, Young, Paul R., additional, and Zafren, Ken, additional
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- 2024
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12. Blood-based epigenome-wide analyses of chronic low-grade inflammation across diverse population cohorts
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Hillary, Robert F., Ng, Hong Kiat, McCartney, Daniel L., Elliott, Hannah R., Walker, Rosie M., Campbell, Archie, Huang, Felicia, Direk, Kenan, Welsh, Paul, Sattar, Naveed, Corley, Janie, Hayward, Caroline, McIntosh, Andrew M., Sudlow, Cathie, Evans, Kathryn L., Cox, Simon R., Chambers, John C., Loh, Marie, Relton, Caroline L., Marioni, Riccardo E., Yousefi, Paul D., and Suderman, Matthew
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- 2024
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13. Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci
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Breeze, Charles E, Batorsky, Anna, Lee, Mi Kyeong, Szeto, Mindy D, Xu, Xiaoguang, McCartney, Daniel L, Jiang, Rong, Patki, Amit, Kramer, Holly J, Eales, James M, Raffield, Laura, Lange, Leslie, Lange, Ethan, Durda, Peter, Liu, Yongmei, Tracy, Russ P, Van Den Berg, David, Evans, Kathryn L, Kraus, William E, Shah, Svati, Tiwari, Hermant K, Hou, Lifang, Whitsel, Eric A, Jiang, Xiao, Charchar, Fadi J, Baccarelli, Andrea A, Rich, Stephen S, Morris, Andrew P, Irvin, Marguerite R, Arnett, Donna K, Hauser, Elizabeth R, Rotter, Jerome I, Correa, Adolfo, Hayward, Caroline, Horvath, Steve, Marioni, Riccardo E, Tomaszewski, Maciej, Beck, Stephan, Berndt, Sonja I, London, Stephanie J, Mychaleckyj, Josyf C, and Franceschini, Nora
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Biological Sciences ,Genetics ,Kidney Disease ,Biotechnology ,Health Disparities ,Human Genome ,Minority Health ,2.1 Biological and endogenous factors ,Renal and urogenital ,CpG Islands ,DNA Methylation ,Epigenesis ,Genetic ,Epigenomics ,Gene Expression Regulation ,Genetic Variation ,Genetics ,Population ,Genome-Wide Association Study ,Glomerular Filtration Rate ,Humans ,Kidney ,Kidney Function Tests ,Phenotype ,Quantitative Trait Loci ,Quantitative Trait ,Heritable ,Racial Groups ,Epigenetic ,Kidney function ,Gene regulation ,Kidney development ,DNA methylation ,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium ,TOPMed MESA Multi-Omics Working Group ,Clinical Sciences - Abstract
BackgroundDNA methylation (DNAm) is associated with gene regulation and estimated glomerular filtration rate (eGFR), a measure of kidney function. Decreased eGFR is more common among US Hispanics and African Americans. The causes for this are poorly understood. We aimed to identify trans-ethnic and ethnic-specific differentially methylated positions (DMPs) associated with eGFR using an agnostic, genome-wide approach.MethodsThe study included up to 5428 participants from multi-ethnic studies for discovery and 8109 participants for replication. We tested the associations between whole blood DNAm and eGFR using beta values from Illumina 450K or EPIC arrays. Ethnicity-stratified analyses were performed using linear mixed models adjusting for age, sex, smoking, and study-specific and technical variables. Summary results were meta-analyzed within and across ethnicities. Findings were assessed using integrative epigenomics methods and pathway analyses.ResultsWe identified 93 DMPs associated with eGFR at an FDR of 0.05 and replicated 13 and 1 DMPs across independent samples in trans-ethnic and African American meta-analyses, respectively. The study also validated 6 previously published DMPs. Identified DMPs showed significant overlap enrichment with DNase I hypersensitive sites in kidney tissue, sites associated with the expression of proximal genes, and transcription factor motifs and pathways associated with kidney tissue and kidney development.ConclusionsWe uncovered trans-ethnic and ethnic-specific DMPs associated with eGFR, including DMPs enriched in regulatory elements in kidney tissue and pathways related to kidney development. These findings shed light on epigenetic mechanisms associated with kidney function, bridging the gap between population-specific eGFR-associated DNAm and tissue-specific regulatory context.
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- 2021
14. Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging
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McCartney, Daniel L, Min, Josine L, Richmond, Rebecca C, Lu, Ake T, Sobczyk, Maria K, Davies, Gail, Broer, Linda, Guo, Xiuqing, Jeong, Ayoung, Jung, Jeesun, Kasela, Silva, Katrinli, Seyma, Kuo, Pei-Lun, Matias-Garcia, Pamela R, Mishra, Pashupati P, Nygaard, Marianne, Palviainen, Teemu, Patki, Amit, Raffield, Laura M, Ratliff, Scott M, Richardson, Tom G, Robinson, Oliver, Soerensen, Mette, Sun, Dianjianyi, Tsai, Pei-Chien, van der Zee, Matthijs D, Walker, Rosie M, Wang, Xiaochuan, Wang, Yunzhang, Xia, Rui, Xu, Zongli, Yao, Jie, Zhao, Wei, Correa, Adolfo, Boerwinkle, Eric, Dugué, Pierre-Antoine, Durda, Peter, Elliott, Hannah R, Gieger, Christian, de Geus, Eco JC, Harris, Sarah E, Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon LR, Kresovich, Jacob K, Li, Shengxu, Lunetta, Kathryn L, Mangino, Massimo, Mason, Dan, McIntosh, Andrew M, Mengel-From, Jonas, Moore, Ann Zenobia, Murabito, Joanne M, Ollikainen, Miina, Pankow, James S, Pedersen, Nancy L, Peters, Annette, Polidoro, Silvia, Porteous, David J, Raitakari, Olli, Rich, Stephen S, Sandler, Dale P, Sillanpää, Elina, Smith, Alicia K, Southey, Melissa C, Strauch, Konstantin, Tiwari, Hemant, Tanaka, Toshiko, Tillin, Therese, Uitterlinden, Andre G, Van Den Berg, David J, van Dongen, Jenny, Wilson, James G, Wright, John, Yet, Idil, Arnett, Donna, Bandinelli, Stefania, Bell, Jordana T, Binder, Alexandra M, Boomsma, Dorret I, Chen, Wei, Christensen, Kaare, Conneely, Karen N, Elliott, Paul, Ferrucci, Luigi, Fornage, Myriam, Hägg, Sara, Hayward, Caroline, Irvin, Marguerite, Kaprio, Jaakko, Lawlor, Deborah A, Lehtimäki, Terho, Lohoff, Falk W, Milani, Lili, Milne, Roger L, Probst-Hensch, Nicole, Reiner, Alex P, Ritz, Beate, and Rotter, Jerome I
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Prevention ,Nutrition ,Aging ,Human Genome ,Genetics ,Generic health relevance ,Inflammatory and immune system ,Good Health and Well Being ,Adiposity ,Biomarkers ,C-Reactive Protein ,CpG Islands ,DNA Methylation ,Educational Status ,Epigenesis ,Genetic ,Genetic Loci ,Genetic Markers ,Genome ,Human ,Genome-Wide Association Study ,Granulocytes ,Humans ,Immunity ,Innate ,Lipid Metabolism ,Multifactorial Inheritance ,Plasminogen Activator Inhibitor 1 ,DNA methylation ,GWAS ,Epigenetic clock ,Genetics of DNA Methylation Consortium ,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium ,Environmental Sciences ,Biological Sciences ,Information and Computing Sciences ,Bioinformatics - Abstract
BackgroundBiological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field.ResultsLeveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci associated with the Horvath clock and expression of transcripts encoding genes linked to lipid metabolism and immune function. Notably, these loci are independent of those reported to regulate DNA methylation levels at constituent clock CpGs. A polygenic score for GrimAge acceleration showed strong associations with adiposity-related traits, educational attainment, parental longevity, and C-reactive protein levels.ConclusionThis study illuminates the genetic architecture underlying epigenetic aging and its shared genetic contributions with lifestyle factors and longevity.
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- 2021
15. Comprehensive evaluation of smoking exposures and their interactions on DNA methylation
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Heijmans, Bastiaan, ’t Hoen, Peter, van Meurs, Joyce, Jansen, Rick, Franke, Lude, Boomsma, Dorret, Pool, René, van Dongen, Jenny, Hottenga, Jouke, van Greevenbroek, Marleen, Stehouwer, Coen, van der Kallen, Carla, Schalkwijk, Casper, Wijmenga, Cisca, Zhernakova, Sasha, Tigchelaar, Ettje, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Van Heemst, Diana, Veldink, Jan, van den Berg, Leonard, van Duijn, Cornelia, Hofman, Bert, Isaacs, Aaron, Uitterlinden, André, Jhamai, P. Mila, Verbiest, Michael, Suchiman, H. Eka, Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Mei, Hailiang, van Iterson, Maarten, van Galen, Michiel, Bot, Jan, Zhernakova, Dasha, van ‘t Hof, Peter, Deelen, Patrick, Nooren, Irene, Moed, Matthijs, Vermaat, Martijn, Luijk, René, Bonder, Marc, van Dijk, Freerk, Arindrarto, Wibowo, Kielbasa, Szymon, Swertz, Morris, van Zwet, Erik, Hoang, Thanh T., Lee, Yunsung, McCartney, Daniel L., Kersten, Elin T.G., Page, Christian M., Hulls, Paige M., Lee, Mikyeong, Walker, Rosie M., Breeze, Charles E., Bennett, Brian D., Burkholder, Adam B., Ward, James, Brantsæter, Anne Lise, Caspersen, Ida H., Motsinger-Reif, Alison A., Richards, Marie, White, Julie D., Zhao, Shanshan, Richmond, Rebecca C., Magnus, Maria C., Koppelman, Gerard H., Evans, Kathryn L., Marioni, Riccardo E., Håberg, Siri E., and London, Stephanie J.
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- 2024
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16. Integration of datasets for individual prediction of DNA methylation-based biomarkers
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Merzbacher, Charlotte, Ryan, Barry, Goldsborough, Thibaut, Hillary, Robert F., Campbell, Archie, Murphy, Lee, McIntosh, Andrew M., Liewald, David, Harris, Sarah E., McRae, Allan F., Cox, Simon R., Cannings, Timothy I., Vallejos, Catalina A., McCartney, Daniel L., and Marioni, Riccardo E.
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- 2023
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17. Refining epigenetic prediction of chronological and biological age
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Bernabeu, Elena, McCartney, Daniel L., Gadd, Danni A., Hillary, Robert F., Lu, Ake T., Murphy, Lee, Wrobel, Nicola, Campbell, Archie, Harris, Sarah E., Liewald, David, Hayward, Caroline, Sudlow, Cathie, Cox, Simon R., Evans, Kathryn L., Horvath, Steve, McIntosh, Andrew M., Robinson, Matthew R., Vallejos, Catalina A., and Marioni, Riccardo E.
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- 2023
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18. Acceptability and Usability of Self-Sampling for the Detection of Sexually Transmitted Infections Among Transgender Women: The TransOdara Multicentric Study in Brazil
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McCartney, Daniel Jason, Bassichetto, Katia Cristina, Leal, Andrea Fachel, Knauth, Daniela, Dourado, Inês, Magno, Laio, Carvalho da Silva, Roberto José, Mayaud, Philippe, and Veras, Maria Amélia
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- 2024
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19. Development and validation of DNA methylation scores in two European cohorts augment 10-year risk prediction of type 2 diabetes
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Cheng, Yipeng, Gadd, Danni A., Gieger, Christian, Monterrubio-Gómez, Karla, Zhang, Yufei, Berta, Imrich, Stam, Michael J., Szlachetka, Natalia, Lobzaev, Evgenii, Wrobel, Nicola, Murphy, Lee, Campbell, Archie, Nangle, Cliff, Walker, Rosie M., Fawns-Ritchie, Chloe, Peters, Annette, Rathmann, Wolfgang, Porteous, David J., Evans, Kathryn L., McIntosh, Andrew M., Cannings, Timothy I., Waldenberger, Melanie, Ganna, Andrea, McCartney, Daniel L., Vallejos, Catalina A., and Marioni, Riccardo E.
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- 2023
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20. Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids
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Davyson, Eleanor, Shen, Xueyi, Gadd, Danni A., Bernabeu, Elena, Hillary, Robert F., McCartney, Daniel L., Adams, Mark, Marioni, Riccardo, and McIntosh, Andrew M.
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- 2023
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21. Elevated symptoms of depression and anxiety among family members and friends of critically ill COVID-19 patients – an observational study of five cohorts across four countries
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Lovik, Anikó, González-Hijón, Juan, Hoffart, Asle, Fawns-Ritchie, Chloe, Magnúsdóttir, Ingibjörg, Lu, Li, Unnarsdóttir, Anna Bára, Kähler, Anna K., Campbell, Archie, Hauksdóttir, Arna, Chourpiliadis, Charilaos, McCartney, Daniel L., Thordardóttir, Edda Björk, Joyce, Emily E., Frans, Emma M., Jakobsdóttir, Jóhanna, Trogstad, Lill, Andreassen, Ole A., Magnus, Per, Johnson, Sverre Urnes, Sullivan, Patrick F., Aspelund, Thor, Porteous, David J., Ask, Helga, Ebrahimi, Omid V., Valdimarsdóttir, Unnur Anna, and Fang, Fang
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- 2023
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22. Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits
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Hatton, Alesha A., Hillary, Robert F., Bernabeu, Elena, McCartney, Daniel L., Marioni, Riccardo E., and McRae, Allan F.
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- 2023
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23. Ethnic differences in the indirect effects of the COVID-19 pandemic on clinical monitoring and hospitalisations for non-COVID conditions in England: a population-based, observational cohort study using the OpenSAFELY platform
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Chaturvedi, Nishi, Park, Chloe, Carnemolla, Alisia, Williams, Dylan, Knueppel, Anika, Boyd, Andy, Turner, Emma L., Evans, Katharine M., Thomas, Richard, Berman, Samantha, McLachlan, Stela, Crane, Matthew, Whitehorn, Rebecca, Oakley, Jacqui, Foster, Diane, Woodward, Hannah, Campbell, Kirsteen C., Timpson, Nicholas, Kwong, Alex, Soares, Ana Goncalves, Griffith, Gareth, Toms, Renin, Jones, Louise, Annie, Herbert, Mitchell, Ruth, Palmer, Tom, Sterne, Jonathan, Walker, Venexia, Huntley, Lizzie, Fox, Laura, Denholm, Rachel, Knight, Rochelle, Northstone, Kate, Kanagaratnam, Arun, Horne, Elsie, Forbes, Harriet, North, Teri, Taylor, Kurt, Arab, Marwa A.L., Walker, Scott, Coronado, Jose I.C., Karthikeyan, Arun S., Ploubidis, George, Moltrecht, Bettina, Booth, Charlotte, Parsons, Sam, Wielgoszewska, Bozena, Bridger-Staatz, Charis, Steves, Claire, Thompson, Ellen, Garcia, Paz, Cheetham, Nathan, Bowyer, Ruth, Freydin, Maxim, Roberts, Amy, Goldacre, Ben, Walker, Alex, Morley, Jess, Hulme, William, Nab, Linda, Fisher, Louis, MacKenna, Brian, Andrews, Colm, Curtis, Helen, Hopcroft, Lisa, Green, Amelia, Patalay, Praveetha, Maddock, Jane, Patel, Kishan, Stafford, Jean, Jacques, Wels, Tilling, Kate, Macleod, John, McElroy, Eoin, Shah, Anoop, Silverwood, Richard, Denaxas, Spiros, Flaig, Robin, McCartney, Daniel, Campbell, Archie, Tomlinson, Laurie, Tazare, John, Zheng, Bang, Smeeth, Liam, Herrett, Emily, Cowling, Thomas, Mansfield, Kate, Costello, Ruth E., Wang, Kevin, Mansfield, Kathryn, Mahalingasivam, Viyaasan, Douglas, Ian, Langan, Sinead, Brophy, Sinead, Parker, Michael, Kennedy, Jonathan, McEachan, Rosie, Wright, John, Willan, Kathryn, Badrick, Ellena, Santorelli, Gillian, Yang, Tiffany, Hou, Bo, Steptoe, Andrew, Giorgio, Di Gessa, Zhu, Jingmin, Zaninotto, Paola, Wood, Angela, Cezard, Genevieve, Ip, Samantha, Bolton, Tom, Sampri, Alexia, Rafeti, Elena, Almaghrabi, Fatima, Sheikh, Aziz, Shah, Syed A., Katikireddi, Vittal, Shaw, Richard, Hamilton, Olivia, Green, Michael, Kromydas, Theocharis, Kopasker, Daniel, Greaves, Felix, Willans, Robert, Glen, Fiona, Sharp, Steve, Hughes, Alun, Wong, Andrew, Howes, Lee Hamill, Rapala, Alicja, Nigrelli, Lidia, McArdle, Fintan, Beckford, Chelsea, Raman, Betty, Dobson, Richard, Folarin, Amos, Stewart, Callum, Ranjan, Yatharth, Carpentieri, Jd, Sheard, Laura, Fang, Chao, Baz, Sarah, Gibson, Andy, Kellas, John, Neubauer, Stefan, Piechnik, Stefan, Lukaschuk, Elena, Saunders, Laura C., Wild, James M., Smith, Stephen, Jezzard, Peter, Tunnicliffe, Elizabeth, Sanders, Zeena-Britt, Finnigan, Lucy, Ferreira, Vanessa, Green, Mark, Rhead, Rebecca, Kibble, Milla, Wei, Yinghui, Lemanska, Agnieszka, Perez-Reche, Francisco, Piehlmaier, Dominik, Teece, Lucy, Parker, Edward, Walker, Alex J., Inglesby, Peter, Curtis, Helen J., Morton, Caroline E., Morley, Jessica, Mehrkar, Amir, Bacon, Sebastian C.J., Hickman, George, Croker, Richard, Evans, David, Ward, Tom, DeVito, Nicholas J., Green, Amelia C.A., Massey, Jon, Smith, Rebecca M., Hulme, William J., Davy, Simon, Andrews, Colm D., Hopcroft, Lisa E.M., Drysdale, Henry, Dillingham, Iain, Park, Robin Y., Higgins, Rose, Cunningham, Christine, Wiedemann, Milan, Maude, Steven, Macdonald, Orla, Butler-Cole, Ben F.C., O'Dwyer, Thomas, Stables, Catherine L., Wood, Christopher, Brown, Andrew D., Speed, Victoria, Bridges, Lucy, Schaffer, Andrea L., Walters, Caroline E., Rentsch, Christopher T., Bhaskaran, Krishnan, Schultze, Anna, Williamson, Elizabeth J., McDonald, Helen I., Tomlinson, Laurie A., Mathur, Rohini, Eggo, Rosalind M., Wing, Kevin, Wong, Angel Y.S., Grieve, Richard, Grint, Daniel J., Mansfield, Kathryn E., Douglas, Ian J., Evans, Stephen J.W., Walker, Jemma L., Cowling, Thomas E., Herrett, Emily L., Parker, Edward P.K., Bates, Christopher, Cockburn, Jonathan, Parry, John, Hester, Frank, Harper, Sam, O'Hanlon, Shaun, Eavis, Alex, Jarvis, Richard, Avramov, Dima, Griffiths, Paul, Fowles, Aaron, Parkes, Nasreen, Nicholson, Brian, Perera, Rafael, Harrison, David, Khunti, Kamlesh, Sterne, Jonathan AC., Quint, Jennifer, Henderson, Alasdair D., Carreira, Helena, Bidulka, Patrick, Warren-Gash, Charlotte, Hayes, Joseph F., Quint, Jennifer K., Katikireddi, Srinivasa Vittal, and Langan, Sinéad M.
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- 2023
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24. Additive Effects of Stress and Alcohol Exposure on Accelerated Epigenetic Aging in Alcohol Use Disorder
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Jung, Jeesun, McCartney, Daniel L., Wagner, Josephin, Yoo, Joyce, Bell, Andrew S., Mavromatis, Lucas A., Rosoff, Daniel B., Hodgkinson, Colin A., Sun, Hui, Schwandt, Melanie, Diazgranados, Nancy, Smith, Alicia K., Michopoulos, Vasiliki, Powers, Abigail, Stevens, Jennifer, Bradley, Bekh, Fani, Negar, Walker, Rosie M., Campbell, Archie, Porteous, David J., McIntosh, Andrew M., Horvath, Steve, Marioni, Riccardo E., Evans, Kathryn L., Goldman, David, and Lohoff, Falk W.
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- 2023
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25. Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging
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Jung, Jeesun, McCartney, Daniel L., Wagner, Josephin, Rosoff, Daniel B., Schwandt, Melanie, Sun, Hui, Wiers, Corinde E., de Carvalho, Luana Martins, Volkow, Nora D., Walker, Rosie M., Campbell, Archie, Porteous, David J., McIntosh, Andrew M., Marioni, Riccardo E., Horvath, Steve, Evans, Kathryn L., and Lohoff, Falk W.
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- 2022
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26. Life-course exposure to air pollution and biological ageing in the Lothian Birth Cohort 1936
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Baranyi, Gergő, Deary, Ian J., McCartney, Daniel L., Harris, Sarah E., Shortt, Niamh, Reis, Stefan, Russ, Tom C., Ward Thompson, Catharine, Vieno, Massimo, Cox, Simon R., and Pearce, Jamie
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- 2022
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27. Acceptability of self-sampling for etiological diagnosis of mucosal sexually transmitted infections (STIs) among transgender women in a longitudinal cohort study in Sao Paulo, Brazil
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McCartney, Daniel Jason, Pinheiro, Thiago Felix, Gomez, Jose Luis, Carvalho, Paula Galdino Cardin de, Veras, Maria Amelia, and Mayaud, Philippe
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- 2022
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28. Acute COVID-19 severity and mental health morbidity trajectories in patient populations of six nations: an observational study
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Magnúsdóttir, Ingibjörg, Lovik, Anikó, Unnarsdóttir, Anna Bára, McCartney, Daniel, Ask, Helga, Kõiv, Kadri, Nordahl Christoffersen, Lea Arregui, Johnson, Sverre Urnes, McIntosh, Andrew, Kähler, Anna K., Campbell, Archie, Hauksdóttir, Arna, Fawns-Ritchie, Chloe, Erikstrup, Christian, Helenius, Dorte, Altschul, Drew, Thordardottir, Edda Bjork, Eyþórsson, Elías, Frans, Emma M., Tómasson, Gunnar, Jónsdóttir, Harpa Lind, Rúnarsdóttir, Harpa, Hjalgrim, Henrik, Harõardóttir, Hrönn, González-Hijón, Juan, Banasik, Karina, Dinh, Khoa Manh, Lu, Li, Milani, Lili, Trogstad, Lill, Didriksen, Maria, Ebrahimi, Omid V., Sullivan, Patrick F., Magnus, Per Minor, Shen, Qing, Nesvåg, Ragnar, Mägi, Reedik, Pálsson, Runólfur, Ostrowski, Sisse Rye, Werge, Thomas, Hoffart, Asle, Porteous, David J, Fang, Fang, Jakobsdóttir, Jóhanna, Lehto, Kelli, Andreassen, Ole A., Pedersen, Ole B.V., Aspelund, Thor, Valdimarsdóttir, Unnur Anna, Christoffersen, Lea Arregui Nordahl, Ebrahimi, Omid V, Andreassen, Ole A, and Pedersen, Ole B V
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- 2022
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29. Identification of influential probe types in epigenetic predictions of human traits: implications for microarray design
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Hillary, Robert F., McCartney, Daniel L., McRae, Allan F., Campbell, Archie, Walker, Rosie M., Hayward, Caroline, Horvath, Steve, Porteous, David J., Evans, Kathryn L., and Marioni, Riccardo E.
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- 2022
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30. Feasibility and ethics of using data from the Scottish newborn blood spot archive for research
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Cunningham-Burley, Sarah, McCartney, Daniel L., Campbell, Archie, Flaig, Robin, Orange, Clare E. L., Porteous, Carol, Aitken, Mhairi, Mulholland, Ciaran, Davidson, Sara, McCafferty, Selena M., Murphy, Lee, Wrobel, Nicola, McCafferty, Sarah, Wallace, Karen, StClair, David, Kerr, Shona, Hayward, Caroline, McIntosh, Andrew M., Sudlow, Cathie, Marioni, Riccardo E., Pell, Jill, Miedzybrodzka, Zosia, and Porteous, David J.
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- 2022
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31. Integrated methylome and phenome study of the circulating proteome reveals markers pertinent to brain health
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Gadd, Danni A., Hillary, Robert F., McCartney, Daniel L., Shi, Liu, Stolicyn, Aleks, Robertson, Neil A., Walker, Rosie M., McGeachan, Robert I., Campbell, Archie, Xueyi, Shen, Barbu, Miruna C., Green, Claire, Morris, Stewart W., Harris, Mathew A., Backhouse, Ellen V., Wardlaw, Joanna M., Steele, J. Douglas, Oyarzún, Diego A., Muniz-Terrera, Graciela, Ritchie, Craig, Nevado-Holgado, Alejo, Chandra, Tamir, Hayward, Caroline, Evans, Kathryn L., Porteous, David J., Cox, Simon R., Whalley, Heather C., McIntosh, Andrew M., and Marioni, Riccardo E.
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- 2022
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32. Blood-based epigenome-wide analyses of cognitive abilities
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McCartney, Daniel L., Hillary, Robert F., Conole, Eleanor L. S., Banos, Daniel Trejo, Gadd, Danni A., Walker, Rosie M., Nangle, Cliff, Flaig, Robin, Campbell, Archie, Murray, Alison D., Maniega, Susana Muñoz, Valdés-Hernández, María del C., Harris, Mathew A., Bastin, Mark E., Wardlaw, Joanna M., Harris, Sarah E., Porteous, David J., Tucker-Drob, Elliot M., McIntosh, Andrew M., Evans, Kathryn L., Deary, Ian J., Cox, Simon R., Robinson, Matthew R., and Marioni, Riccardo E.
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- 2022
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33. Epigenetic biomarkers of ageing are predictive of mortality risk in a longitudinal clinical cohort of individuals diagnosed with oropharyngeal cancer
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Beynon, Rhona A., Ingle, Suzanne M., Langdon, Ryan, May, Margaret, Ness, Andy, Martin, Richard M., Suderman, Matthew, Ingarfield, Kate, Marioni, Riccardo E., McCartney, Daniel L., Waterboer, Tim, Pawlita, Michael, Relton, Caroline, Smith, George Davey, and Richmond, Rebecca C.
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- 2022
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34. Generation Scotland – Transparency in the data access process
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Campbell, Archie, primary, Wood, Alex, additional, Flaig, Robin, additional, McCartney, Daniel, additional, Whalley, Heather, additional, and Sudlow, Cathie, additional
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- 2024
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35. Blood- and brain-based genome-wide association studies of smoking
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Chybowska, Aleksandra D., primary, Bernabeu, Elena, additional, Yousefi, Paul, additional, Suderman, Matthew, additional, Hillary, Robert F., additional, MacGillivray, Louise, additional, Murphy, Lee, additional, Harris, Sarah E., additional, Corley, Janie, additional, Campbell, Archie, additional, Spires-Jones, Tara L., additional, McCartney, Daniel L., additional, Cox, Simon R., additional, Price, Jackie F., additional, Evans, Kathryn L., additional, and Marioni, Riccardo E., additional
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- 2024
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36. Vitamin D and SARS-CoV-2 infection—evolution of evidence supporting clinical practice and policy development: A position statement from the Covit-D Consortium
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McCartney, Daniel M., O’Shea, Paula M., Faul, John L., Healy, Martin J., Byrne, Greg, Griffin, Tomás P., Walsh, James Bernard, Byrne, Declan G., and Kenny, Rose Anne
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- 2021
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37. An epigenetic predictor of death captures multi-modal measures of brain health
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Hillary, Robert F., Stevenson, Anna J., Cox, Simon R., McCartney, Daniel L., Harris, Sarah E., Seeboth, Anne, Higham, Jon, Sproul, Duncan, Taylor, Adele M., Redmond, Paul, Corley, Janie, Pattie, Alison, Hernández, Maria del. C. Valdés, Muñoz-Maniega, Susana, Bastin, Mark E., Wardlaw, Joanna M., Horvath, Steve, Ritchie, Craig W., Spires-Jones, Tara L., McIntosh, Andrew M., Evans, Kathryn L., Deary, Ian J., and Marioni, Riccardo E.
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- 2021
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38. Investigating genome-wide transcriptional and methylomic consequences of a balanced t(1;11) translocation linked to major mental illness
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McCartney, Daniel Lawrence, Evans, Kathy, Porteous, David, and McIntosh, Andrew
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DISC1 ,DNA methylation ,psychiatric illness ,SORL1 ,schizophrenia ,Sortilin family gene expression - Abstract
Schizophrenia, bipolar disorder and major depressive disorder are devastating psychiatric conditions with a complex, overlapping genetic and environmental architecture. Previously, a family has been reported where a balanced chromosomal translocation between chromosomes 1 and 11 [t(1;11)] shows significant linkage to these disorders. This translocation transects three genes: Disrupted in schizophrenia- 1 (DISC1) on chromosome 1, a non-coding RNA, Disrupted in schizophrenia-2 (DISC2) antisense to DISC1, and a non-coding transcript, DISC1 fusion partner-1 (DISC1FP1) on chromosome 11, all of which could result in pathogenic properties in the context of the translocation. This thesis focuses on the genome-wide effects of the t(1;11) translocation, primarily examining differences in gene expression and DNA methylation, using various biological samples from the t(1;11) family. To assess the genome-wide effects of the t(1;11) translocation on methylation, DNA methylation was profiled in whole-blood from 41 family members using the Infinium HumanMethylation450 BeadChip. Significant differential methylation was observed within the translocation breakpoint regions on chromosomes 1 and 11. Downstream analysis identified additional regions of differential methylation outwith these chromosomes, while pathway analysis showed terms related to psychiatric disorders and neurodevelopment were enriched amongst differentially methylated genes, in addition to more general terms pertaining to cellular function. Using induced pluripotent stem cell (iPSC) technology, neuronal samples were developed from fibroblasts in a subset of individuals profiled for genome-wide methylation in whole blood (N = 6) with an aim to replicate the significant findings around the breakpoint regions. Here, methylation was profiled using the Infinium HumanMethylation450 BeadChip’s successor: the Infinium MethylationEPIC BeadChip. The results from the blood-based study failed to replicate in the neuronal samples, which could be attributed to low statistical power or tissue-specific factors such as methylation quantitative trait loci. The differences in methylation in the most significantly differentially methylated loci were found to be driven by a single individual, rendering further interpretation of the findings from this analysis difficult without additional samples. Cross-tissue analyses of DNA methylation were performed on blood and neuronal DNA from these six individuals, revealing little correlation between cell types. DISC1 is central to a network of interacting protein partners, including the transcription factor ATF4, and PDE4; both of which are associated with the cAMP signalling pathway. Haploinsufficiency of DISC1 due to the translocation may therefore be disruptive to cAMP-mediated gene expression. In order to identify transcriptomic effects which may be related to the t(1;11) translocation, genome-wide expression profiling was performed in lymphoblastoid cell line RNA from 13 family members. No transcripts were found to be differentially expressed at the genome-wide significant level. A post-hoc power analysis suggested that more samples would be required in order to detect genome-wide significant differential expression. However, imposing a fold-change cut-off to the data identified a number of candidate genes for follow-up analysis, including SORL1: a member of the brain-expressed Sortilin gene family. Sortilin genes have been linked to multiple psychiatric disorders including schizophrenia, bipolar disorder and Alzheimer’s disease. Follow-up analyses of Sortilin family members were performed in a Disc1 mouse model of schizophrenia, containing an amino acid substitution (L100P). Here, developmental gene expression profiling was performed with an additional aim to optimise and validate work performed by others using this mouse model. However, results from these experiments were variable between two independent batches mice tested. Additional investigation of Sortilin family genes was performed using GWAS data from human samples, using machine learning techniques to identify epistatic interactions linked to depression and brain function, revealing no statistically significant interactions. The results presented in this thesis suggest a potential mechanism for differential DNA methylation in the context of chromosomal translocations, and suggests mechanisms whereby increased risk of illness is conferred upon translocation carriers through dysregulation of transcription and DNA methylation.
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- 2017
39. Alzheimer's disease genetic pathways impact cerebrospinal fluid biomarkers and imaging endophenotypes in non‐demented individuals.
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Lorenzini, Luigi, Collij, Lyduine E., Tesi, Niccoló, Vilor‐Tejedor, Natàlia, Ingala, Silvia, Blennow, Kaj, Foley, Christopher, Frisoni, Giovanni B., Haller, Sven, Holstege, Henne, van der van der Lee, Sven, Martinez‐Lage, Pablo, Marioni, Riccardo E., McCartney, Daniel L., O' Brien, John, Oliveira, Tiago Gil, Payoux, Pierre, Reinders, Marcel, Ritchie, Craig, and Scheltens, Philip
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- 2024
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40. Discovery of shared epigenetic pathways across human phenotypes
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Kratschmer, Ilse, primary, Smith, Hannah M, additional, McCartney, Daniel L., additional, Bernabeu, Elena, additional, Mahmoudi, Mahdi, additional, Campbell, Archie L., additional, Corley, Janie, additional, Harris, Sarah, additional, Cox, Simon R, additional, Marioni, Riccardo R, additional, and Robinson, Matthew Richard, additional
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- 2024
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41. Mental illness and COVID-19 vaccination: a multinational investigation of observational & register-based data
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Barker, Mary, primary, Kõiv, Kadri, additional, Magnúsdóttir, Ingibjörg, additional, Milbourn, Hannah, additional, Wang, Bin, additional, Du, Xinkai, additional, Murphy, Gillian, additional, Herweijer, Eva, additional, Gísladóttir, Elísabet, additional, Li, Huiqi, additional, Lovik, Anikó, additional, Kahler, Anna, additional, Campbell, Archie, additional, Feychting, Maria, additional, Hauksdóttir, Arna, additional, Joyce, Emily, additional, Thordardottir, Edda, additional, Frans, Emma, additional, Hoffart, Asle, additional, Magi, Reedik, additional, Tómasson, Gunnar, additional, Ásbjörnsdóttir, Kristjana, additional, Jakobsdóttir, Jóhanna, additional, Andreassen, Ole, additional, Sullivan, Patrick, additional, Johnson, Sverre, additional, Aspelund, Thor, additional, Brandlistuen, Ragnhild, additional, Ask, Helga, additional, McCartney, Daniel, additional, Ebrahimi, Omid, additional, Lehto, Kelli, additional, Valdimarsdóttir, Unnur, additional, Nyberg, Fredrik, additional, and Fang, Fang, additional
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- 2024
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42. Mental illness and COVID-19 vaccination: a multinational investigation of observational & register-based data
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Barker, Mary M, primary, Koiv, Kadri, additional, Magnusdottir, Ingibjorg, additional, Milbourn, Hannah, additional, Wang, Bin, additional, Du, Xinkai, additional, Murphy, Gillian, additional, Herweijer, Eva, additional, Gisladottir, Elisabet U, additional, Li, Huiqi, additional, Lovik, Aniko, additional, Kahler, Anna K, additional, Campbell, Archie, additional, Feychting, Maria, additional, Hauksdottir, Arna, additional, Joyce, Emily E, additional, Thordardottir, Edda Bjork, additional, Frans, Emma, additional, Hoffart, Asle, additional, Magi, Reedik, additional, Tomasson, Gunnar, additional, Asbjornsdottir, Kristjana, additional, Jakobsdottir, Johanna, additional, Andreassen, Ole, additional, Sullivan, Patrick, additional, Johnson, Sverre Urnes, additional, Aspelund, Thor, additional, Brandlistuen, Ragnhild Eek, additional, Ask, Helga, additional, McCartney, Daniel L., additional, Ebrahimi, Omid V, additional, Lehto, Kelli, additional, Valdimarsdottir, Unnur, additional, Nyberg, Fredrik, additional, and Fang, Fang, additional
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- 2024
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43. Blood-based DNA methylation study of alcohol consumption
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Bernabeu, Elena, primary, Chybowska, Aleksandra, additional, Kresovich, Jacob K, additional, Suderman, Matthew, additional, McCartney, Daniel L., additional, Hillary, Robert F, additional, Corley, Janie, additional, Valdes Hernandez, Maria Del Carmen, additional, Munoz Maniega, Susana, additional, Bastin, Mark E, additional, Wardlaw, Joanna M, additional, Xu, Zongli, additional, Sandler, Dale P., additional, Campbell, Archie, additional, Harris, Sarah E, additional, McIntosh, Andrew M, additional, Taylor, Jack, additional, Yousefi, Paul Darius, additional, Cox, Simon R, additional, Evans, Kathryn L, additional, Robinson, Matthew Richard, additional, Vallejos, Catalina A, additional, and Marioni, Riccardo, additional
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- 2024
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44. Feature pre-selection for the development of epigenetic biomarkers
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Cheng, Yipeng, primary, Gieger, Christian, additional, Campbell, Archie, additional, McIntosh, Andrew M, additional, Waldenberger, Melanie, additional, McCartney, Daniel L, additional, Marioni, Riccardo E, additional, and Vallejos, Catalina A, additional
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- 2024
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45. Comprehensive evaluation of smoking exposures and their interactions on DNA methylation
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Hoang, Thanh T., primary, Lee, Yunsung, additional, McCartney, Daniel L., additional, Kersten, Elin T.G., additional, Page, Christian M., additional, Hulls, Paige M., additional, Lee, Mikyeong, additional, Walker, Rosie M., additional, Breeze, Charles E., additional, Bennett, Brian D., additional, Burkholder, Adam B., additional, Ward, James, additional, Brantsæter, Anne Lise, additional, Caspersen, Ida H., additional, Motsinger-Reif, Alison A., additional, Richards, Marie, additional, White, Julie D., additional, Zhao, Shanshan, additional, Richmond, Rebecca C., additional, Magnus, Maria C., additional, Koppelman, Gerard H., additional, Evans, Kathryn L., additional, Marioni, Riccardo E., additional, Håberg, Siri E., additional, London, Stephanie J., additional, Heijmans, Bastiaan, additional, ’t Hoen, Peter, additional, van Meurs, Joyce, additional, Jansen, Rick, additional, Franke, Lude, additional, Boomsma, Dorret, additional, Pool, René, additional, van Dongen, Jenny, additional, Hottenga, Jouke, additional, van Greevenbroek, Marleen, additional, Stehouwer, Coen, additional, van der Kallen, Carla, additional, Schalkwijk, Casper, additional, Wijmenga, Cisca, additional, Zhernakova, Sasha, additional, Tigchelaar, Ettje, additional, Slagboom, P. Eline, additional, Beekman, Marian, additional, Deelen, Joris, additional, Van Heemst, Diana, additional, Veldink, Jan, additional, van den Berg, Leonard, additional, van Duijn, Cornelia, additional, Hofman, Bert, additional, Isaacs, Aaron, additional, Uitterlinden, André, additional, Jhamai, P. Mila, additional, Verbiest, Michael, additional, Suchiman, H. Eka, additional, Verkerk, Marijn, additional, van der Breggen, Ruud, additional, van Rooij, Jeroen, additional, Lakenberg, Nico, additional, Mei, Hailiang, additional, van Iterson, Maarten, additional, van Galen, Michiel, additional, Bot, Jan, additional, Zhernakova, Dasha, additional, van ‘t Hof, Peter, additional, Deelen, Patrick, additional, Nooren, Irene, additional, Moed, Matthijs, additional, Vermaat, Martijn, additional, Luijk, René, additional, Bonder, Marc, additional, van Dijk, Freerk, additional, Arindrarto, Wibowo, additional, Kielbasa, Szymon, additional, Swertz, Morris, additional, and van Zwet, Erik, additional
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- 2024
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46. Meta-analyses identify DNA methylation associated with kidney function and damage
- Author
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Schlosser, Pascal, Tin, Adrienne, Matias-Garcia, Pamela R., Thio, Chris H. L., Joehanes, Roby, Liu, Hongbo, Weihs, Antoine, Yu, Zhi, Hoppmann, Anselm, Grundner-Culemann, Franziska, Min, Josine L., Adeyemo, Adebowale A., Agyemang, Charles, Ärnlöv, Johan, Aziz, Nasir A., Baccarelli, Andrea, Bochud, Murielle, Brenner, Hermann, Breteler, Monique M. B., Carmeli, Cristian, Chaker, Layal, Chambers, John C., Cole, Shelley A., Coresh, Josef, Corre, Tanguy, Correa, Adolfo, Cox, Simon R., de Klein, Niek, Delgado, Graciela E., Domingo-Relloso, Arce, Eckardt, Kai-Uwe, Ekici, Arif B., Endlich, Karlhans, Evans, Kathryn L., Floyd, James S., Fornage, Myriam, Franke, Lude, Fraszczyk, Eliza, Gao, Xu, Gào, Xīn, Ghanbari, Mohsen, Ghasemi, Sahar, Gieger, Christian, Greenland, Philip, Grove, Megan L., Harris, Sarah E., Hemani, Gibran, Henneman, Peter, Herder, Christian, Horvath, Steve, Hou, Lifang, Hurme, Mikko A., Hwang, Shih-Jen, Jarvelin, Marjo-Riitta, Kardia, Sharon L. R., Kasela, Silva, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Kramer, Holly, Kronenberg, Florian, Kühnel, Brigitte, Lehtimäki, Terho, Lind, Lars, Liu, Dan, Liu, Yongmei, Lloyd-Jones, Donald M., Lohman, Kurt, Lorkowski, Stefan, Lu, Ake T., Marioni, Riccardo E., März, Winfried, McCartney, Daniel L., Meeks, Karlijn A. C., Milani, Lili, Mishra, Pashupati P., Nauck, Matthias, Navas-Acien, Ana, Nowak, Christoph, Peters, Annette, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli T., Ratliff, Scott M., Reiner, Alex P., Rosas, Sylvia E., Schöttker, Ben, Schwartz, Joel, Sedaghat, Sanaz, Smith, Jennifer A., Sotoodehnia, Nona, Stocker, Hannah R., Stringhini, Silvia, Sundström, Johan, Swenson, Brenton R., Tellez-Plaza, Maria, van Meurs, Joyce B. J., van Vliet-Ostaptchouk, Jana V., Venema, Andrea, Verweij, Niek, Walker, Rosie M., Wielscher, Matthias, Winkelmann, Juliane, Wolffenbuttel, Bruce H. R., Zhao, Wei, Zheng, Yinan, Loh, Marie, Snieder, Harold, Levy, Daniel, Waldenberger, Melanie, Susztak, Katalin, Köttgen, Anna, and Teumer, Alexander
- Published
- 2021
- Full Text
- View/download PDF
47. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus
- Author
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Tin, Adrienne, Schlosser, Pascal, Matias-Garcia, Pamela R., Thio, Chris H. L., Joehanes, Roby, Liu, Hongbo, Yu, Zhi, Weihs, Antoine, Hoppmann, Anselm, Grundner-Culemann, Franziska, Min, Josine L., Kuhns, Victoria L. Halperin, Adeyemo, Adebowale A., Agyemang, Charles, Ärnlöv, Johan, Aziz, Nasir A., Baccarelli, Andrea, Bochud, Murielle, Brenner, Hermann, Bressler, Jan, Breteler, Monique M. B., Carmeli, Cristian, Chaker, Layal, Coresh, Josef, Corre, Tanguy, Correa, Adolfo, Cox, Simon R., Delgado, Graciela E., Eckardt, Kai-Uwe, Ekici, Arif B., Endlich, Karlhans, Floyd, James S., Fraszczyk, Eliza, Gao, Xu, Gào, Xīn, Gelber, Allan C., Ghanbari, Mohsen, Ghasemi, Sahar, Gieger, Christian, Greenland, Philip, Grove, Megan L., Harris, Sarah E., Hemani, Gibran, Henneman, Peter, Herder, Christian, Horvath, Steve, Hou, Lifang, Hurme, Mikko A., Hwang, Shih-Jen, Kardia, Sharon L. R., Kasela, Silva, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Kronenberg, Florian, Kühnel, Brigitte, Ladd-Acosta, Christine, Lehtimäki, Terho, Lind, Lars, Liu, Dan, Lloyd-Jones, Donald M., Lorkowski, Stefan, Lu, Ake T., Marioni, Riccardo E., März, Winfried, McCartney, Daniel L., Meeks, Karlijn A. C., Milani, Lili, Mishra, Pashupati P., Nauck, Matthias, Nowak, Christoph, Peters, Annette, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli T., Ratliff, Scott M., Reiner, Alex P., Schöttker, Ben, Schwartz, Joel, Sedaghat, Sanaz, Smith, Jennifer A., Sotoodehnia, Nona, Stocker, Hannah R., Stringhini, Silvia, Sundström, Johan, Swenson, Brenton R., van Meurs, Joyce B. J., van Vliet-Ostaptchouk, Jana V., Venema, Andrea, Völker, Uwe, Winkelmann, Juliane, Wolffenbuttel, Bruce H. R., Zhao, Wei, Zheng, Yinan, Loh, Marie, Snieder, Harold, Waldenberger, Melanie, Levy, Daniel, Akilesh, Shreeram, Woodward, Owen M., Susztak, Katalin, Teumer, Alexander, and Köttgen, Anna
- Published
- 2021
- Full Text
- View/download PDF
48. Incidence of diabetes after SARS-CoV-2 infection in England and the implications of COVID-19 vaccination: a retrospective cohort study of 16 million people
- Author
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Taylor, Kurt, Eastwood, Sophie, Walker, Venexia, Cezard, Genevieve, Knight, Rochelle, Al Arab, Marwa, Wei, Yinghui, Horne, Elsie M F, Teece, Lucy, Forbes, Harriet, Walker, Alex, Fisher, Louis, Massey, Jon, Hopcroft, Lisa E M, Palmer, Tom, Cuitun Coronado, Jose, Ip, Samantha, Davy, Simon, Dillingham, Iain, Morton, Caroline, Greaves, Felix, Macleod, John, Goldacre, Ben, Wood, Angela, Chaturvedi, Nishi, Sterne, Jonathan A C, Denholm, Rachel, Al Arab, Marwa, Almaghrabi, Fatima, Andrews, Colm, Badrick, Ellena, Baz, Sarah, Beckford, Chelsea, Berman, Samantha, Bolton, Tom, Booth, Charlotte, Bowyer, Ruth, Boyd, Andy, Bridger-Staatz, Charis, Brophy, Sinead, Campbell, Archie, Campbell, Kirsteen C, Carnemolla, Alisia, Carpentieri, Jd, Cezard, Genevieve, Chaturvedi, Nishi, Cheetham, Nathan, Costello, Ruth, Cowling, Thomas, Crane, Matthew, Cuitun Coronado, Jose Ignacio, Curtis, Helen, Denaxas, Spiros, Denholm, Rachel, Di Gessa, Giorgio, Dobson, Richard, Douglas, Ian, Evans, Katharine M, Fang, Chao, Ferreira, Vanessa, Finnigan, Lucy, Fisher, Louis, Flaig, Robin, Folarin, Amos, Forbes, Harriet, Foster, Diane, Fox, Laura, Freydin, Maxim, Garcia, Paz, Gibson, Andy, Glen, Fiona, Goldacre, Ben, Goncalves Soares, Ana, Greaves, Felix, Green, Amelia, Green, Mark, Green, Michael, Griffith, Gareth, Hamill Howes, Lee, Hamilton, Olivia, Herbet, Annie, Herrett, Emily, Hopcroft, Lisa, Horne, Elsie, Hou, Bo, Hughes, Alun, Hulme, William, Huntley, Lizzie, Ip, Samantha, Jacques, Wels, Jezzard, Peter, Jones, Louise, Kanagaratnam, Arun, Karthikeyan Suseeladevi, Arun, Katikireddi, Vittal, Kellas, John, Kennedy, Jonathan I, Kibble, Milla, Knight, Rochelle, Knueppel, Anika, Kopasker, Daniel, Kromydas, Theocharis, Kwong, Alex, Langan, Sinead, Lemanska, Agnieszka, Lukaschuk, Elena, Mackenna, Brain, Macleod, John, Maddock, Jane, Mahalingasivam, Viyaasan, Mansfield, Kathryn, McArdle, Fintan, McCartney, Daniel, McEachan, Rosie, McElroy, Eoin, McLachlan, Stela, Mitchell, Ruth, Moltrecht, Bettina, Morley, Jess, Nab, Linda, Neubauer, Stefan, Nigrelli, Lidia, North, Teri, Northstone, Kate, Oakley, Jacqui, Palmer, Tom, Park, Chloe, Parker, Michael, Parsons, Sam, Patalay, Praveetha, Patel, Kishan, Perez-Reche, Francisco, Piechnik, Stefan, Piehlmaier, Dominik, Ploubidis, George, Rafeti, Elena, Raman, Betty, Ranjan, Yatharth, Rapala, Alicja, Rhead, Rebecca, Roberts, Amy, Sampri, Alexia, Sanders, Zeena-Britt, Santorelli, Gillian, Saunders, Laura C, Shah, Anoop, Shah, Syed Ahmar, Sharp, Steve, Shaw, Richard, Sheard, Laura, Sheikh, Aziz, Silverwood, Richard, Smeeth, Liam, Smith, Stephen, Stafford, Jean, Steptoe, Andrew, Sterne, Jonathan, Steves, Claire, Stewart, Callum, Taylor, Kurt, Tazare, John, Teece, Lucy, Thomas, Richard, Thompson, Ellen, Tilling, Kate, Timpson, Nicholas, Tomlinson, Laurie, Toms, Renin, Tunnicliffe, Elizabeth, Turner, Emma L, Walker, Alex, Walker, Venexia, Walter, Scott, Wang, Kevin, Wei, Yinghui, Whitehorn, Rebecca, Wielgoszewska, Bozena, Wild, James M, Willan, Kathryn, Willans, Robert, Williams, Dylan, Wong, Andrew, Wood, Angela, Woodward, Hannah, Wright, John, Yang, Tiffany, Zaninotto, Paola, Zheng, Bang, and Zhu, Jingmin
- Abstract
Some studies have shown that the incidence of type 2 diabetes increases after a diagnosis of COVID-19, although the evidence is not conclusive. However, the effects of the COVID-19 vaccine on this association, or the effect on other diabetes subtypes, are not clear. We aimed to investigate the association between COVID-19 and incidence of type 2, type 1, gestational and non-specific diabetes, and the effect of COVID- 19 vaccination, up to 52 weeks after diagnosis.
- Published
- 2024
- Full Text
- View/download PDF
49. Epigenetic Contributions to Clinical Risk Prediction of Cardiovascular Disease
- Author
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Chybowska, Aleksandra D., primary, Gadd, Danni A., additional, Cheng, Yipeng, additional, Bernabeu, Elena, additional, Campbell, Archie, additional, Walker, Rosie M., additional, McIntosh, Andrew M., additional, Wrobel, Nicola, additional, Murphy, Lee, additional, Welsh, Paul, additional, Sattar, Naveed, additional, Price, Jackie F., additional, McCartney, Daniel L., additional, Evans, Kathryn L., additional, and Marioni, Riccardo E., additional
- Published
- 2024
- Full Text
- View/download PDF
50. Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol
- Author
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Rioux, Bastien, primary, Chong, Michael, additional, Walker, Rosie, additional, McGlasson, Sarah, additional, Rannikmäe, Kristiina, additional, McCartney, Daniel, additional, McCabe, John, additional, Brown, Robin, additional, Crow, Yanick J., additional, Hunt, David, additional, and Whiteley, William, additional
- Published
- 2023
- Full Text
- View/download PDF
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