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211 results on '"Elliott, Hannah R"'

1. Maternal age is related to offspring DNA methylation: A meta‐analysis of results from the PACE consortium

Author

Yeung, Edwina, Biedrzycki, Richard J, Herrera, Laura C Gómez, Issarapu, Prachand, Dou, John, Marques, Irene Fontes, Mansuri, Sohail Rafik, Page, Christian Magnus, Harbs, Justin, Khodasevich, Dennis, Poisel, Eric, Niu, Zhongzheng, Allard, Catherine, Casey, Emma, Berstein, Fernanda Morales, Mancano, Giulia, Elliott, Hannah R, Richmond, Rebecca, He, Yiyan, Ronkainen, Justiina, Sebert, Sylvain, Bell, Erin M, Sharp, Gemma, Mumford, Sunni L, Schisterman, Enrique F, Chandak, Giriraj R, Fall, Caroline HD, Sahariah, Sirazul A, Silver, Matt J, Prentice, Andrew M, Bouchard, Luigi, Domellof, Magnus, West, Christina, Holland, Nina, Cardenas, Andres, Eskenazi, Brenda, Zillich, Lea, Witt, Stephanie H, Send, Tabea, Breton, Carrie, Bakulski, Kelly M, Fallin, M Daniele, Schmidt, Rebecca J, Stein, Dan J, Zar, Heather J, Jaddoe, Vincent WV, Wright, John, Grazuleviciene, Regina, Gutzkow, Kristine Bjerve, Sunyer, Jordi, Huels, Anke, Vrijheid, Martine, Harlid, Sophia, London, Stephanie, Hivert, Marie‐France, Felix, Janine, Bustamante, Mariona, and Guan, Weihua

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Prevention, Human Genome, Clinical Research, Women's Health, Aging, Pediatric, Good Health and Well Being, DNA Methylation, Humans, Female, Maternal Age, Infant, Newborn, Child, Adult, Male, Child, Preschool, CpG Islands, Pregnancy, aging, child, DNA methylation, melatonin, receptor, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Worldwide trends to delay childbearing have increased parental ages at birth. Older parental age may harm offspring health, but mechanisms remain unclear. Alterations in offspring DNA methylation (DNAm) patterns could play a role as aging has been associated with methylation changes in gametes of older individuals. We meta-analyzed epigenome-wide associations of parental age with offspring blood DNAm of over 9500 newborns and 2000 children (5-10 years old) from the Pregnancy and Childhood Epigenetics consortium. In newborns, we identified 33 CpG sites in 13 loci with DNAm associated with maternal age (PFDR

Published
2024

3. Blood-based epigenome-wide analyses of chronic low-grade inflammation across diverse population cohorts

Author

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

Published
2024
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4. DNA methylation at the suppressor of cytokine signaling 3 (SOCS3) gene influences height in childhood

Author

Issarapu, Prachand, Arumalla, Manisha, Elliott, Hannah R., Nongmaithem, Suraj S., Sankareswaran, Alagu, Betts, Modupeh, Sajjadi, Sara, Kessler, Noah J., Bayyana, Swati, Mansuri, Sohail R., Derakhshan, Maria, Krishnaveni, G. V., Shrestha, Smeeta, Kumaran, Kalyanaraman, Di Gravio, Chiara, Sahariah, Sirazul A., Sanderson, Eleanor, Relton, Caroline L., Ward, Kate A., Moore, Sophie E., Prentice, Andrew M., Lillycrop, Karen A., Fall, Caroline H. D., Silver, Matt J., and Chandak, Giriraj R.

Published
2023
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6. Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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

Subjects
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.

Published
2021

15. Identifying epigenetic biomarkers of established prognostic factors and survival in a clinical cohort of individuals with oropharyngeal cancer

Author

Langdon, Ryan, Richmond, Rebecca, Elliott, Hannah R., Dudding, Tom, Kazmi, Nabila, Penfold, Chris, Ingarfield, Kate, Ho, Karen, Bretherick, Andrew, Haley, Chris, Zeng, Yanni, Walker, Rosie M., Pawlita, Michael, Waterboer, Tim, Gaunt, Tom, Smith, George Davey, Suderman, Matthew, Thomas, Steve, Ness, Andy, and Relton, Caroline

Published
2020
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18. Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study

Author

Chambers, John C, Loh, Marie, Lehne, Benjamin, Drong, Alexander, Kriebel, Jennifer, Motta, Valeria, Wahl, Simone, Elliott, Hannah R, Rota, Federica, Scott, William R, Zhang, Weihua, Tan, Sian-Tsung, Campanella, Gianluca, Chadeau-Hyam, Marc, Yengo, Loic, Richmond, Rebecca C, Adamowicz-Brice, Martyna, Afzal, Uzma, Bozaoglu, Kiymet, Mok, Zuan Yu, Ng, Hong Kiat, Pattou, François, Prokisch, Holger, Rozario, Michelle Ann, Tarantini, Letizia, Abbott, James, Ala-Korpela, Mika, Albetti, Benedetta, Ammerpohl, Ole, Bertazzi, Pier Alberto, Blancher, Christine, Caiazzo, Robert, Danesh, John, Gaunt, Tom R, de Lusignan, Simon, Gieger, Christian, Illig, Thomas, Jha, Sujeet, Jones, Simon, Jowett, Jeremy, Kangas, Antti J, Kasturiratne, Anuradhani, Kato, Norihiro, Kotea, Navaratnam, Kowlessur, Sudhir, Pitkäniemi, Janne, Punjabi, Prakash, Saleheen, Danish, Schafmayer, Clemens, Soininen, Pasi, Tai, E-Shyong, Thorand, Barbara, Tuomilehto, Jaakko, Wickremasinghe, Ananda Rajitha, Kyrtopoulos, Soterios A, Aitman, Timothy J, Herder, Christian, Hampe, Jochen, Cauchi, Stéphane, Relton, Caroline L, Froguel, Philippe, Soong, Richie, Vineis, Paolo, Jarvelin, Marjo-Riitta, Scott, James, Grallert, Harald, Bollati, Valentina, Elliott, Paul, McCarthy, Mark I, and Kooner, Jaspal S

Published
2015
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20. The EWAS Catalog: a database of epigenome-wide association studies

Author

Battram, Thomas, primary, Yousefi, Paul, additional, Crawford, Gemma, additional, Prince, Claire, additional, Sheikhali Babaei, Mahsa, additional, Sharp, Gemma, additional, Hatcher, Charlie, additional, Vega-Salas, María Jesús, additional, Khodabakhsh, Sahar, additional, Whitehurst, Oliver, additional, Langdon, Ryan, additional, Mahoney, Luke, additional, Elliott, Hannah R., additional, Mancano, Giulia, additional, Lee, Matthew A., additional, Watkins, Sarah H., additional, Lay, Abigail C., additional, Hemani, Gibran, additional, Gaunt, Tom R., additional, Relton, Caroline L., additional, Staley, James R., additional, and Suderman, Matthew, additional

Published
2022
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22. Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy: An Integrative Epigenome-Wide Association Study.

Author

Fragoso-Bargas, Nicolas, Elliott, Hannah R., Lee-Ødegård, Sindre, Opsahl, Julia O., Sletner, Line, Jenum, Anne Karen, Drevon, Christian A., Qvigstad, Elisabeth, Moen, Gunn-Helen, Birkeland, Kåre I., Prasad, Rashmi B., and Sommer, Christine

Subjects
*DNA methylation, *INSULIN resistance, *EPIGENOMICS, *LOCUS (Genetics), *GENETIC variation, *SOUTH Asians
Abstract

Although there are some epigenome-wide association studies (EWAS) of insulin resistance, for most of them authors did not replicate their findings, and most are focused on populations of European ancestry, limiting the generalizability. In the Epigenetics in Pregnancy (EPIPREG; n = 294 Europeans and 162 South Asians) study, we conducted an EWAS of insulin resistance in maternal peripheral blood leukocytes, with replication in the Born in Bradford (n = 879; n = 430 Europeans and 449 South Asians), Methyl Epigenome Network Association (MENA) (n = 320), and Botnia (n = 56) cohorts. In EPIPREG, we identified six CpG sites inversely associated with insulin resistance across ancestry, of which five were replicated in independent cohorts (cg02988288, cg19693031, and cg26974062 in TXNIP; cg06690548 in SLC7A11; and cg04861640 in ZSCAN26). From methylation quantitative trait loci analysis in EPIPREG, we identified gene variants related to all five replicated cross-ancestry CpG sites, which were associated with several cardiometabolic phenotypes. Mediation analyses suggested that the gene variants regulate insulin resistance through DNA methylation. To conclude, our cross-ancestry EWAS identified five CpG sites related to lower insulin resistance. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Characterisation of ethnic differences in DNA methylation between UK resident South Asians and Europeans

Author

Elliott, Hannah R., primary, Burrows, Kimberley, additional, Min, Josine L., additional, Tillin, Therese, additional, Mason, Dan, additional, Wright, John, additional, Santorelli, Gillian, additional, Smith, George Davey, additional, Lawlor, Deborah A., additional, Hughes, Alun D., additional, Chaturvedi, Nishi, additional, and Relton, Caroline L., additional

Published
2022
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24. Additional file 2 of Characterisation of ethnic differences in DNA methylation between UK-resident South Asians and Europeans

Author

Elliott, Hannah R., Burrows, Kimberley, Min, Josine L., Tillin, Therese, Mason, Dan, Wright, John, Santorelli, Gillian, Davey Smith, George, Lawlor, Deborah A., Hughes, Alun D., Chaturvedi, Nishi, and Relton, Caroline L.

Abstract

Additional file 2. Figure S2. Principal component analysis of SABRE DNA methylation data. The upper panel shows PCs 1 and 2 generated from the 1000 most variant probes in SABRE or BiB. The lower panel shows PCs 1 and 2 generated from the 10000 most variant probes in SABRE or BiB. Colours indicate self-reported ethnic subgrouping (SABRE, BiB). Axis labels show the variance explained by each PC.

Published
2022
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25. Additional file 5 of Characterisation of ethnic differences in DNA methylation between UK-resident South Asians and Europeans

Author

Elliott, Hannah R., Burrows, Kimberley, Min, Josine L., Tillin, Therese, Mason, Dan, Wright, John, Santorelli, Gillian, Davey Smith, George, Lawlor, Deborah A., Hughes, Alun D., Chaturvedi, Nishi, and Relton, Caroline L.

Abstract

Additional file 5. Figure S3. Comparison of effect sizes for cell composition adjustment of EWAS. Each CpG is represented by a point on the graph with 95% confidence intervals for effect estimates. Red dashed line: linear regression between data sets. Black dashed line: line of equality. Orange highlighted estimates: p ≤ 1.03 × 10−7 cell adjusted EWAS (n = 3922/16,344 CpG sites).

Published
2022
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27. Characterizing the human methylome across the life course: findings from eight UK-based studies

Author

Walton, Esther, primary, Marioni, Riccardo, additional, Elliott, Hannah R, additional, Cox, Simon R, additional, Deary, Ian R, additional, Hughes, Alun D, additional, Tillin, Therese, additional, Kumari, Meena, additional, Woofenden, Tom, additional, Castillo-Fernandez, Juan E, additional, Bell, Jordana Tzenova, additional, Goodman, Alissa, additional, Ploubidis, George, additional, Tilling, Kate, additional, Suderman, Matthew, additional, Gaunt, Tom R, additional, Dunn, Erin C, additional, Smith, Andrew, additional, and Relton, Caroline, additional

Published
2021
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28. Association of medically assisted reproduction with offspring cord blood DNA methylation across cohorts

Author

Caramaschi, Doretta, primary, Jungius, James, additional, Page, Christian M, additional, Novakovic, Boris, additional, Saffery, Richard, additional, Halliday, Jane, additional, Lewis, Sharon, additional, Magnus, Maria C, additional, London, Stephanie J, additional, Håberg, Siri E, additional, Relton, Caroline L, additional, Lawlor, Deborah A, additional, and Elliott, Hannah R, additional

Published
2021
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29. Epigenetic-age acceleration in the emerging burden of cardiometabolic diseases among migrant and non-migrant African populations: a population-based cross-sectional RODAM substudy

Author

Chilunga, Felix P, primary, Henneman, Peter, additional, Elliott, Hannah R, additional, Cronjé, H Toinét, additional, Walia, Gagandeep K, additional, Meeks, Karlijn A C, additional, Requena-Mendez, Ana, additional, Venema, Andrea, additional, Bahendeka, Silver, additional, Danquah, Ina, additional, Adeyemo, Adebowale, additional, Klipstein-Grobusch, Kerstin, additional, Pieters, Marlien, additional, Mannens, Marcels M A M, additional, and Agyemang, Charles, additional

Published
2021
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30. Additional file 1 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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 J. C., Harris, Sarah E., Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon L. R., 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, Rotter, Jerome I., Smith, Jennifer A., Taylor, Jack A., van Meurs, Joyce B. J., Vineis, Paolo, Waldenberger, Melanie, Deary, Ian J., Relton, Caroline L., Horvath, Steve, and Marioni, Riccardo E.

Abstract

Additional file 1. Individual cohort descriptions and acknowledgements.

Published
2021
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31. Additional file 5 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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 J. C., Harris, Sarah E., Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon L. R., 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, Rotter, Jerome I., Smith, Jennifer A., Taylor, Jack A., van Meurs, Joyce B. J., Vineis, Paolo, Waldenberger, Melanie, Deary, Ian J., Relton, Caroline L., Horvath, Steve, and Marioni, Riccardo E.

Abstract

Additional file 5. Colocalization plots.

Published
2021
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32. Additional file 6 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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 J. C., Harris, Sarah E., Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon L. R., 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, Rotter, Jerome I., Smith, Jennifer A., Taylor, Jack A., van Meurs, Joyce B. J., Vineis, Paolo, Waldenberger, Melanie, Deary, Ian J., Relton, Caroline L., Horvath, Steve, and Marioni, Riccardo E.

Abstract

Additional file 6. Review history.

Published
2021
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33. Additional file 1 of DNA methylation of blood cells is associated with prevalent type 2 diabetes in a meta-analysis of four European cohorts

Author

Juvinao-Quintero, Diana L., Marioni, Riccardo E., Ochoa-Rosales, Carolina, Russ, Tom C., Deary, Ian J., Meurs, Joyce B. J. Van, Voortman, Trudy, Marie-France Hivert, Sharp, Gemma C., Relton, Caroline L., and Elliott, Hannah R.

Abstract

Additional file 1. Additional information supporting findings of the present study.

Published
2021
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34. Additional file 4 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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 J. C., Harris, Sarah E., Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon L. R., 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, Rotter, Jerome I., Smith, Jennifer A., Taylor, Jack A., van Meurs, Joyce B. J., Vineis, Paolo, Waldenberger, Melanie, Deary, Ian J., Relton, Caroline L., Horvath, Steve, and Marioni, Riccardo E.

Abstract

Additional file 4. Assessment of genomic inflation and heterogeneity.

Published
2021
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35. Additional file 3 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Author

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 J. C., Harris, Sarah E., Hemani, Gibran, Imboden, Medea, Kähönen, Mika, Kardia, Sharon L. R., 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, Rotter, Jerome I., Smith, Jennifer A., Taylor, Jack A., van Meurs, Joyce B. J., Vineis, Paolo, Waldenberger, Melanie, Deary, Ian J., Relton, Caroline L., Horvath, Steve, and Marioni, Riccardo E.

Abstract

Additional file 3. Supplementary Figures - Figures S1-S31.

Published
2021
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36. Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Author

Min, Josine L., Hemani, Gibran, Hannon, Eilis, Dekkers, Koen F., Castillo-Fernandez, Juan, Luijk, René, Carnero-Montoro, Elena, Lawson, Daniel J., Burrows, Kimberley, Suderman, Matthew, Bretherick, Andrew D., Richardson, Tom G., Klughammer, Johanna, Iotchkova, Valentina, Sharp, Gemma, Al Khleifat, Ahmad, Shatunov, Aleksey, Iacoangeli, Alfredo, McArdle, Wendy L., Ho, Karen M., Kumar, Ashish, Söderhäll, Cilla, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Kazmi, Nabila, Mason, Dan, McRae, Allan F., Corcoran, David L., Sugden, Karen, Kasela, Silva, Cardona, Alexia, Day, Felix R., Cugliari, Giovanni, Viberti, Clara, Guarrera, Simonetta, Lerro, Michael, Gupta, Richa, Bollepalli, Sailalitha, Mandaviya, Pooja, Zeng, Yanni, Clarke, Toni Kim, Walker, Rosie M., Schmoll, Vanessa, Czamara, Darina, Ruiz-Arenas, Carlos, Elliott, Hannah R., Nohr, Ellen A., Sørensen, Thorkild I.A., Hansen, Torben, Morgen, Camilla S., Min, Josine L., Hemani, Gibran, Hannon, Eilis, Dekkers, Koen F., Castillo-Fernandez, Juan, Luijk, René, Carnero-Montoro, Elena, Lawson, Daniel J., Burrows, Kimberley, Suderman, Matthew, Bretherick, Andrew D., Richardson, Tom G., Klughammer, Johanna, Iotchkova, Valentina, Sharp, Gemma, Al Khleifat, Ahmad, Shatunov, Aleksey, Iacoangeli, Alfredo, McArdle, Wendy L., Ho, Karen M., Kumar, Ashish, Söderhäll, Cilla, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Kazmi, Nabila, Mason, Dan, McRae, Allan F., Corcoran, David L., Sugden, Karen, Kasela, Silva, Cardona, Alexia, Day, Felix R., Cugliari, Giovanni, Viberti, Clara, Guarrera, Simonetta, Lerro, Michael, Gupta, Richa, Bollepalli, Sailalitha, Mandaviya, Pooja, Zeng, Yanni, Clarke, Toni Kim, Walker, Rosie M., Schmoll, Vanessa, Czamara, Darina, Ruiz-Arenas, Carlos, Elliott, Hannah R., Nohr, Ellen A., Sørensen, Thorkild I.A., Hansen, Torben, and Morgen, Camilla S.

Abstract

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15–17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype–phenotype map than previously anticipated.

Published
2021

37. Epigenetic-age acceleration in the emerging burden of cardiometabolic diseases among migrant and non-migrant African populations:a population-based cross-sectional RODAM substudy

Author

Chilunga, Felix P., Henneman, Peter, Elliott, Hannah R., Cronje, H. Toinet, Walia, Gagandeep K., Meeks, Karlijn A. C., Requena-Mendez, Ana, Venema, Andrea, Bahendeka, Silver, Danquah, Ina, Adeyemo, Adebowale, Klipstein-Grobusch, Kerstin, Pieters, Marlien, Mannens, Marcels M. A. M., Agyemang, Charles, Chilunga, Felix P., Henneman, Peter, Elliott, Hannah R., Cronje, H. Toinet, Walia, Gagandeep K., Meeks, Karlijn A. C., Requena-Mendez, Ana, Venema, Andrea, Bahendeka, Silver, Danquah, Ina, Adeyemo, Adebowale, Klipstein-Grobusch, Kerstin, Pieters, Marlien, Mannens, Marcels M. A. M., and Agyemang, Charles

Abstract

Background African populations are going through health transitions due to rapid urbanisation and international migration. However, the role of biological ageing in the emerging burden of cardiometabolic diseases among migrant and non-migrant Africans is unknown. We aimed to examine differences in epigenetic-age acceleration (EAA) as measured by four clocks (Horvath, Hannum, PhenoAge, and GrimAge) and their associations with cardiometabolic factors among migrant Ghanaians residing in Europe and non-migrant Ghanaians residing in Ghana using cross-sectional data.Methods In this population-based cross-sectional RODAM substudy, recruitment of urban participants in Ghana was done in two cities (Kumasi and Obuasi), whereas recruitment in rural areas was done in 15 villages in the Ashanti region. In Europe, participants were recruited from the cities of Amsterdam (Netherlands), Berlin (Germany), and London (UK). The method and location of participant recruitment varied according to country and city. Participants were included in the RODAM study if they were older than 25 years, had completed the RODAM study questionnaire, were physically examined, and had blood samples taken. In the present subsample, data for DNA-methylation (DNAm) had to be available for the participants. We did not specify any exclusion criteria. We used genome-wide DNAm data from Ghanaians to quantify EAA. We assessed the correlation between DNAm-based age measures and chronological age, and then we did linear regressions to investigate the associations between EAA and body-mass index (BMI), fasting blood glucose (FBG), blood pressure, alcohol consumption, smoking status, physical activity, and one-carbon metabolism nutrients among migrant and non-migrant populations. We replicated our findings among rural-urban sibling pairs from the India Migration Study and among indigenous South Africans from the PURE-SANW study.Findings Between Feb 2, 2012, and Sept 30, 2014, 736 individuals parti

Published
2021

38. Comparison of DNA methylation clocks in Black South African men

Author

Cronje, Helene T., Nienaber-Rousseau, Cornelie, Min, Josine L., Green, Fiona R., Elliott, Hannah R., Pieters, Marlien, Cronje, Helene T., Nienaber-Rousseau, Cornelie, Min, Josine L., Green, Fiona R., Elliott, Hannah R., and Pieters, Marlien

Abstract

Aims: DNA methylation clocks are widely used to estimate biological age, although limited data are available on non-European ethnicities. This manuscript characterizes the behavior of five DNA methylation clocks in 120 older Black South African men. Methods: The age estimation accuracy of the Horvath, Hannum and skin and blood clocks and the relative age-related mortality risk and predicted time to death portrayed by the PhenoAge and GrimAge biomarkers are investigated, respectively. Results: The results confirm the tendency of DNA methylation clocks to underestimate the biological age of older individuals. GrimAge more accurately characterizes biological decline in this African cohort compared with PhenoAge owing to the unique inclusion of smoking-related damage in the GrimAge estimate. Conclusions: Each clock provides a different fraction of information regarding the aging body. It is essential to continue studying under-represented population groups to ensure methylation-derived indicators are robust and useful in all populations.

Published
2021

39. Epigenetic-age acceleration in the emerging burden of cardiometabolic diseases among migrant and non-migrant African populations: a population-based cross-sectional RODAM substudy

Author

Global Health, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Chilunga, Felix P, Henneman, Peter, Elliott, Hannah R, Cronjé, H Toinét, Walia, Gagandeep K, Meeks, Karlijn A C, Requena-Mendez, Ana, Venema, Andrea, Bahendeka, Silver, Danquah, Ina, Adeyemo, Adebowale, Klipstein-Grobusch, Kerstin, Pieters, Marlien, Mannens, Marcels M A M, Agyemang, Charles, Global Health, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Chilunga, Felix P, Henneman, Peter, Elliott, Hannah R, Cronjé, H Toinét, Walia, Gagandeep K, Meeks, Karlijn A C, Requena-Mendez, Ana, Venema, Andrea, Bahendeka, Silver, Danquah, Ina, Adeyemo, Adebowale, Klipstein-Grobusch, Kerstin, Pieters, Marlien, Mannens, Marcels M A M, and Agyemang, Charles

Published
2021

40. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Author

Pfeffer, Gerald, Barresi, Rita, Wilson, Ian J, Hardy, Steven A, Griffin, Helen, Hudson, Judith, Elliott, Hannah R, Ramesh, Aravind V, Radunovic, Aleksandar, Winer, John B, Vaidya, Sujit, Raman, Ashok, Busby, Mark, Farrugia, Maria E, Ming, Alec, Everett, Chris, Emsley, Hedley C A, Horvath, Rita, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Chinnery, Patrick F, and Sarkozy, Anna

Published
2014
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41. miR-324-5p is up regulated in end-stage osteoarthritis and regulates Indian Hedgehog signalling by differing mechanisms in human and mouse

Author

Woods, Steven, Barter, Matt J., Elliott, Hannah R., McGillivray, Catherine M., Birch, Mark A., Clark, Ian M., Young, David A., Elliott, Hannah R [0000-0002-1500-3533], and Apollo - University of Cambridge Repository

Subjects
Adult, hedgehog signalling, glypicans, SILAC, Zinc Finger Protein GLI1, osteogenesis, Cell Line, Mice, Glypicans, Species Specificity, Osteogenesis, Genes, Reporter, Osteoarthritis, Animals, Humans, Hedgehog Proteins, RNA, Small Interfering, cartilage, Luciferases, 3' Untranslated Regions, microRNA, Mesenchymal Stem Cells, Smoothened Receptor, osteoarthritis, Disease Models, Animal, MicroRNAs, Cartilage, Gene Expression Regulation, Hedgehog signalling, Signal Transduction
Abstract

The Hedgehog (Hh) signalling pathway plays important roles during embryonic development and in adult tissue homeostasis, for example cartilage, where its deregulation can lead to osteoarthritis (OA). microRNAs (miRNAs) are important regulators of gene expression, and have been implicated in the regulation of signalling pathways, including Hh, thereby impacting upon development and disease. Our aim was to identify the function of miRNAs whose expression is altered in OA cartilage. Here we identified an increase in miR-324-5p expression in OA cartilage and hypothesised that, as in glioma, miR-324-5p would regulate Hh signalling. We determined that miR-324-5p regulates osteogenesis in human mesenchymal stem cells (MSCs) and in mouse C3H10T1/2 cells. Luciferase reporter assays demonstrated that miR-324-5p directly regulated established targets GLI1 and SMO in human but not in mouse, suggesting species-dependent mechanism of Hh pathway regulation. Stable Isotope Labelling with Amino acids in Cell culture (SILAC), mass spectrometry and whole genome transcriptome analysis identified Glypican 1 (Gpc1) as a novel miR-324-5p target in mouse, which was confirmed by real-time RT-PCR, immunoblotting and 3'UTR-luciferase reporters. Knockdown of Gpc1 reduced Hh pathway activity, and phenocopied the effect of miR-324-5p on osteogenesis, indicating that miR-324-5p regulates Hh signalling in mouse via direct targeting of Gpc1. Finally, we showed that human GPC1 is not a direct target of miR-324-5p. Importantly, as well as identifying novel regulation of Indian Hedgehog (Ihh) signalling, this study demonstrates how a miRNA can show conserved pathway regulation in two species but by distinct mechanisms and highlights important differences between human diseases and mouse models.

Published
2019

43. The EWAS Catalog: a database of epigenome-wide association studies

Author

Battram, Thomas, primary, Yousefi, Paul, additional, Crawford, Gemma, additional, Prince, Claire, additional, Babei, Mahsa Sheikhali, additional, Sharp, Gemma, additional, Hatcher, Charlie, additional, Vega-Salas, Maria Jesus, additional, Khodabakhsh, Sahar, additional, Whitehurst, Oliver, additional, Langdon, Ryan, additional, Mahoney, Luke, additional, Elliott, Hannah R, additional, Mancano, Giulia, additional, Lee, Matthew, additional, Watkins, Sarah H, additional, Lay, Abigail C, additional, Hemani, Gibran, additional, Gaunt, Tom R, additional, Relton, Caroline, additional, Staley, James R, additional, and Suderman, Matthew, additional

Published
2021
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44. Pathogenic mitochondrial DNA mutations are common in the general population

Author

Elliott, Hannah R., Samuels, David C., Eden, James A., Relton, Caroline L., and Chinnery, Patrick F.

Subjects
Mitochondrial DNA -- Research, Mutation (Biology) -- Analysis, Population genetics -- Research, Biological sciences
Abstract

The prevalence, frequency and the genetic disorders caused by pathogenic and several other mitochondrial DNA mutations (mtDNA) in the general population are discussed. The analysis hence demonstrates the need of the development of new and efficient approaches to combat the transmission of these mutations.

Published
2008

45. Additional file 1 of Identifying epigenetic biomarkers of established prognostic factors and survival in a clinical cohort of individuals with oropharyngeal cancer

Author

Langdon, Ryan, Richmond, Rebecca, Elliott, Hannah R., Dudding, Tom, Kazmi, Nabila, Penfold, Chris, Ingarfield, Kate, Ho, Karen, Bretherick, Andrew, Haley, Chris, Yanni Zeng, Walker, Rosie M., Pawlita, Michael, Waterboer, Tim, Gaunt, Tom, Smith, George Davey, Suderman, Matthew, Thomas, Steve, Ness, Andy, and Relton, Caroline

Abstract

Additional file 1:Supplementary Figure 1. Heatmap showing correlation between top CpG sites (P

Published
2020
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46. Replication and expansion of epigenomewide association literature in a black South African population

Author

10797920 - Pieters, Marlien, 12632449 - Nienaber-Rousseau, Cornelie, 23520825 - Cronjé, Héléne Toinét, Cronjé, H. Toinét, Nienaber-Rousseau, Cornelie, Pieters, Marlien, Elliott, Hannah R., 10797920 - Pieters, Marlien, 12632449 - Nienaber-Rousseau, Cornelie, 23520825 - Cronjé, Héléne Toinét, Cronjé, H. Toinét, Nienaber-Rousseau, Cornelie, Pieters, Marlien, and Elliott, Hannah R.

Abstract

DNA methylation is associated with non-communicable diseases (NCDs) and related traits. Methylation data on continental African ancestries are currently scarce, even though there are known genetic and epigenetic differences between ancestral groups and a high burden of NCDs in Africans. Furthermore, the degree to which current literature can be extrapolated to the understudied African populations, who have limited resources to conduct independent large-scale analysis, is not yet known. To this end, this study examines the reproducibility of previously published epigenome-wide association studies of DNA methylation conducted in different ethinicities, on factors related to NCDs, by replicating findings in 120 South African Batswana men aged 45 to 88 years. In addition, novel associations between methylation and NCD-related factors are investigated using the Illumina EPIC BeadChip. Results Up to 86% of previously identified epigenome-wide associations with NCD-related traits (alcohol consumption, smoking, body mass index, waist circumference, C-reactive protein, blood lipids and age) overlapped with those observed here and a further 13% were directionally consistent. Only 1% of the replicated associations presented with effects opposite to findings in other ancestral groups. The majority of these inconcistencies were associated with population-specific genomic variance. In addition, we identified eight new 450K array CpG associations not previously reported in other ancestries, and 11 novel EPIC CpG associations with alcohol consumption. Conclusions The successful replication of existing EWAS findings in this African population demonstrates that blood-based 450K EWAS findings from commonly investigated ancestries can largely be extrapolated to ethnicities for which epigenetic data are not yet available. Possible population-specific differences in 14% of the tested associations do, however, motivate the need to include a diversity of ethnic groups in future epigenetic

Published
2020

47. Leveraging the urban-rural divide for epigenetic research

Author

12632449 - Nienaber-Rousseau, Cornelie, 10797920 - Pieters, Marlien, 23520825 - Cronjé, Héléne Toinét, Cronjé, Héléne T., Nienaber-Rousseau, Cornelie, Pieters, Marlien, Elliott, Hannah R., 12632449 - Nienaber-Rousseau, Cornelie, 10797920 - Pieters, Marlien, 23520825 - Cronjé, Héléne Toinét, Cronjé, Héléne T., Nienaber-Rousseau, Cornelie, Pieters, Marlien, and Elliott, Hannah R.

Abstract

Urbanization coincides with a complex change in environmental exposure and a rapid increase in noncommunicable diseases (NCDs). Epigenetics, including DNA methylation (DNAm), is thought to mediate part of the association between genetic/environmental exposure and NCDs. The urban–rural divide provides a unique opportunity to investigate the effect of the combined presence of multiple forms of environmental exposure on DNAm and the related increase in disease risk. This review evaluates the ability of three epidemiological study designs (migration, income-comparative and urban–rural designs) to investigate the role of DNAm in the association between urbanization and the rise in NCD prevalence. We also discuss the ability of each study design to address the gaps in the current literature, including the complex methylation-mediated risk attributable to the cluster of forms of exposure characterizing urban and rural living, while providing a platform for developing countries to leverage their demographic discrepancies in future research ventures

Published
2020

48. Methylation vs. protein inflammatory biomarkers and their associations with cardiovascular function

Author

23520825 - Cronjé, Héléne Toinét, 12632449 - Nienaber-Rousseau, Cornelie, 10797920 - Pieters, Marlien, 10922180 - Schutte, Aletta Elisabeth, Cronjé, Héléne Toinét, Nienaber-Rousseau, Cornelie, Schutte, Aletta E., Pieters, Marlien, Elliott, Hannah R., 23520825 - Cronjé, Héléne Toinét, 12632449 - Nienaber-Rousseau, Cornelie, 10797920 - Pieters, Marlien, 10922180 - Schutte, Aletta Elisabeth, Cronjé, Héléne Toinét, Nienaber-Rousseau, Cornelie, Schutte, Aletta E., Pieters, Marlien, and Elliott, Hannah R.

Abstract

DNA methylation data can be used to estimate proportions of leukocyte subsets retrospectively, when directly measured cell counts are unavailable. The methylation-derived neutrophil-to-lymphocyte and lymphocyte-to-monocyte ratios (mdNLRs and mdLMRs) have proven to be particularly useful as indicators of systemic inflammation. As with directly measured NLRs and LMRs, these methylation-derived ratios have been used as prognostic markers for cancer, although little is known about them in relation to other disorders with inflammatory components, such as cardiovascular disease (CVD). Recently, methylation of five genomic cytosine-phosphate-guanine sites (CpGs) was suggested as proxies for mdNLRs, potentially providing a cost-effective alternative when whole-genome methylation data are not available. This study compares seven methylation-derived inflammatory markers (mdNLR, mdLMR, and individual CpG sites) with five conventionally used protein-based inflammatory markers (C-reactive protein, interleukins 6 and 10, tumor-necrosis factor alpha, and interferon-gamma) and a protein-based inflammation score, in their associations with cardiovascular function (CVF) and risk. We found that markers of CVF were more strongly associated with methylation-derived than protein-based markers. In addition, the protein-based and methylation-derived inflammatory markers complemented rather than proxied one another in their contribution to the variance in CVF. There were no strong correlations between the methylation and protein markers either. Therefore, the methylation markers could offer unique information on the inflammatory process and are not just surrogate markers for inflammatory proteins. Although the five CpGs mirrored the mdNLR well in their capacity as proxies, they contributed to CVF above and beyond the mdNLR, suggesting possible added functional relevance. We conclude that methylation-derived indicators of inflammation enable individuals with increased CVD risk to be identifi

Published
2020

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