12 results on '"Stoma, Svetlana"'
Search Results
2. An investigation of genetically determined telomere length and its impact on disease in UK Biobank
- Author
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Stoma, Svetlana
- Subjects
telomere length ,UK Biobank ,biological age ,Thesis - Abstract
Telomere length has been proposed as a marker of biological age, and numerous studies have shown associations between directly measured telomere length and age-related disease risk. The study into underlying genetic contribution to telomere length have recently begun to emerge and bring an understanding of the genetic effect of telomere length on human health. This study investigates genetically determined telomere length and its association with age-related diseases. A genetic risk score was built within UK Biobank for each participant using the genetic determinants of telomere length identified in our large-scale genome-wide meta-analysis study and tested against a curated list of 127 diseases. Some of these associations were confirmed as causal using mendelian randomisation and taken further to model the effects on time to disease onset using survival analysis. Shorter genetically determined telomere length was causally associated with an increased risk of cardiovascular, endocrine, and immune disease phenotypes, and a decreased risk of diseases with high proliferative capacity. This study provides evidence that genetically determined telomere length is involved in the aetiology of age-related disease and influences time to disease onset, which highlights the primary function of telomere length in limiting cell division. A genetic predisposition to shorter telomere length may contribute to an accelerated loss of telomeric repeats during cell division. Whilst a genetic predisposition to longer telomere length may contribute to increased telomere length maintenance that accumulates mutations that may lead to malignancies.
- Published
- 2021
- Full Text
- View/download PDF
3. Polygenic basis and biomedical consequences of telomere length variation
- Author
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Codd, Veryan, Wang, Qingning, Allara, Elias, Musicha, Crispin, Kaptoge, Stephen, Stoma, Svetlana, Jiang, Tao, Hamby, Stephen E., Braund, Peter S., Bountziouka, Vasiliki, Budgeon, Charley A., Denniff, Matthew, Swinfield, Chloe, Papakonstantinou, Manolo, Sheth, Shilpi, Nanus, Dominika E., Warner, Sophie C., Wang, Minxian, Khera, Amit V., Eales, James, Ouwehand, Willem H., Thompson, John R., Di Angelantonio, Emanuele, Wood, Angela M., Butterworth, Adam S., Danesh, John N., Nelson, Christopher P., and Samani, Nilesh J.
- Published
- 2021
- Full Text
- View/download PDF
4. Association of Longer Leukocyte Telomere Length With Cardiac Size, Function, and Heart Failure
- Author
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Aung, Nay, primary, Wang, Qingning, additional, van Duijvenboden, Stefan, additional, Burns, Richard, additional, Stoma, Svetlana, additional, Raisi-Estabragh, Zahra, additional, Ahmet, Selda, additional, Allara, Elias, additional, Wood, Angela, additional, Di Angelantonio, Emanuele, additional, Danesh, John, additional, Munroe, Patricia B., additional, Young, Alistair, additional, Harvey, Nicholas C., additional, Codd, Veryan, additional, Nelson, Christopher P., additional, Petersen, Steffen E., additional, and Samani, Nilesh J., additional
- Published
- 2023
- Full Text
- View/download PDF
5. 10 Rates of aortic valve intervention for severe aortic stenosis by ethnicity in a single tertiary centre in the UK
- Author
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Aslam, Saadia, primary, Singh, Anvesha, additional, Lawson, Claire, additional, Khunti, Kamlesh, additional, Patsalides, Michalis, additional, Alfuhied, Aseel, additional, Stoma, Svetlana, additional, Nelson, Christopher, additional, McCann, Gerry, additional, and Squire, Iain, additional
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- 2023
- Full Text
- View/download PDF
6. Aortic valve intervention rates in patients of different ethnicity with severe aortic stenosis in Leicestershire, UK
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Aslam, Saadia, primary, Patsalides, Michalis A, additional, Stoma, Svetlana, additional, Alfuhied, Aseel, additional, Nelson, Christopher P, additional, Squire, Iain B, additional, Lawson, Claire A, additional, Khunti, Kamlesh, additional, McCann, Gerry P, additional, and Singh, Anvesha, additional
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- 2023
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- View/download PDF
7. Polygenic basis and biomedical consequences of telomere length variation
- Author
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Codd, Veryan, primary, Wang, Qingning, additional, Allara, Elias, additional, Musicha, Crispin, additional, Kaptoge, Stephen, additional, Stoma, Svetlana, additional, Jiang, Tao, additional, Hamby, Stephen E., additional, Braund, Peter S., additional, Bountziouka, Vasiliki, additional, Budgeon, Charley A., additional, Denniff, Matthew, additional, Swinfield, Chloe, additional, Papakonstantinou, Manolo, additional, Sheth, Shilpi, additional, Nanus, Dominika E., additional, Warner, Sophie C., additional, Wang, Minxian, additional, Khera, Amit V., additional, Eales, James, additional, Ouwehand, Willem H., additional, Thompson, John R, additional, Angelantonio, Emanuele Di, additional, Wood, Angela M., additional, Butterworth, Adam S., additional, Danesh, John N., additional, Nelson, Christopher P., additional, and Samani, Nilesh J., additional
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- 2021
- Full Text
- View/download PDF
8. Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
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Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Da Silva Couto Alves, Alexessander, Deelen, Joris, Fedko, Iryna O., Gordon, Scott D., Jiang, Tao, Karlsson, Robert, Kerrison, Nicola, Loe, Taylor K., Mangino, Massimo, Milaneschi, Yuri, Miraglio, Benjamin, Pervjakova, Natalia, Russo, Alessia, Surakka, Ida, van der Spek, Ashley, Verhoeven, Josine E., Amin, Najaf, Beekman, Marian, Blakemore, Alexandra I., Canzian, Federico, Hamby, Stephen E., Hottenga, Jouke-Jan, Jones, Peter D., Jousilahti, Pekka, Mägi, Reedik, Medland, Sarah E., Montgomery, Grant W., Nyholt, Dale R., Perola, Markus, Pietiläinen, Kirsi H., Salomaa, Veikko, Sillanpää, Elina, Suchiman, H. Eka, van Heemst, Diana, Willemsen, Gonneke, Agudo, Antonio, Boeing, Heiner, Boomsma, Dorret I., Chirlaque, Maria-Dolores, Fagherazzi, Guy, Ferrari, Pietro, Franks, Paul W., Gieger, Christian, Eriksson, Johan Gunnar, Gunter, Marc, Hagg, Sara, Hovatta, Iiris, Imaz, Liher, Kaprio, Jaakko, Kaaks, Rudolf, Key, Timothy, Krogh, Vittorio, Martin, Nicholas G., Melander, Olle, Metspalu, Andres, Moreno, Concha, Onland-Moret, N. Charlotte, Nilsson, Peter, Ong, Ken K., Overvad, Kim, Palli, Domenico, Panico, Salvatore, Pedersen, Nancy L., Penninx, Brenda W. J. H., Quirós, J. Ramón, Riitta Jarvelin, Marjo, Rodríguez-Barranco, Miguel, Scott, Robert A., Severi, Gianluca, Slagboom, P. Eline, Spector, Tim D., Tjonneland, Anne, Trichopoulou, Antonia, Tumino, Rosario, Uitterlinden, André G., van der Schouw, Yvonne T., van Duijn, Cornelia M., Weiderpass, Elisabete, Denchi, Eros Lazzerini, Matullo, Giuseppe, Butterworth, Adam S., Danesh, John, Samani, Nilesh J., Wareham, Nicholas J., Nelson, Christopher P., Langenberg, Claudia, Codd, Veryan, Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Da Silva Couto Alves, Alexessander, Deelen, Joris, Fedko, Iryna O., Gordon, Scott D., Jiang, Tao, Karlsson, Robert, Kerrison, Nicola, Loe, Taylor K., Mangino, Massimo, Milaneschi, Yuri, Miraglio, Benjamin, Pervjakova, Natalia, Russo, Alessia, Surakka, Ida, van der Spek, Ashley, Verhoeven, Josine E., Amin, Najaf, Beekman, Marian, Blakemore, Alexandra I., Canzian, Federico, Hamby, Stephen E., Hottenga, Jouke-Jan, Jones, Peter D., Jousilahti, Pekka, Mägi, Reedik, Medland, Sarah E., Montgomery, Grant W., Nyholt, Dale R., Perola, Markus, Pietiläinen, Kirsi H., Salomaa, Veikko, Sillanpää, Elina, Suchiman, H. Eka, van Heemst, Diana, Willemsen, Gonneke, Agudo, Antonio, Boeing, Heiner, Boomsma, Dorret I., Chirlaque, Maria-Dolores, Fagherazzi, Guy, Ferrari, Pietro, Franks, Paul W., Gieger, Christian, Eriksson, Johan Gunnar, Gunter, Marc, Hagg, Sara, Hovatta, Iiris, Imaz, Liher, Kaprio, Jaakko, Kaaks, Rudolf, Key, Timothy, Krogh, Vittorio, Martin, Nicholas G., Melander, Olle, Metspalu, Andres, Moreno, Concha, Onland-Moret, N. Charlotte, Nilsson, Peter, Ong, Ken K., Overvad, Kim, Palli, Domenico, Panico, Salvatore, Pedersen, Nancy L., Penninx, Brenda W. J. H., Quirós, J. Ramón, Riitta Jarvelin, Marjo, Rodríguez-Barranco, Miguel, Scott, Robert A., Severi, Gianluca, Slagboom, P. Eline, Spector, Tim D., Tjonneland, Anne, Trichopoulou, Antonia, Tumino, Rosario, Uitterlinden, André G., van der Schouw, Yvonne T., van Duijn, Cornelia M., Weiderpass, Elisabete, Denchi, Eros Lazzerini, Matullo, Giuseppe, Butterworth, Adam S., Danesh, John, Samani, Nilesh J., Wareham, Nicholas J., Nelson, Christopher P., Langenberg, Claudia, and Codd, Veryan
- Abstract
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
- Published
- 2020
- Full Text
- View/download PDF
9. Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- Author
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Li, Chen, primary, Stoma, Svetlana, additional, Lotta, Luca A., additional, Warner, Sophie, additional, Albrecht, Eva, additional, Allione, Alessandra, additional, Arp, Pascal P., additional, Broer, Linda, additional, Buxton, Jessica L., additional, Da Silva Couto Alves, Alexessander, additional, Deelen, Joris, additional, Fedko, Iryna O., additional, Gordon, Scott D., additional, Jiang, Tao, additional, Karlsson, Robert, additional, Kerrison, Nicola, additional, Loe, Taylor K., additional, Mangino, Massimo, additional, Milaneschi, Yuri, additional, Miraglio, Benjamin, additional, Pervjakova, Natalia, additional, Russo, Alessia, additional, Surakka, Ida, additional, van der Spek, Ashley, additional, Verhoeven, Josine E., additional, Amin, Najaf, additional, Beekman, Marian, additional, Blakemore, Alexandra I., additional, Canzian, Federico, additional, Hamby, Stephen E., additional, Hottenga, Jouke-Jan, additional, Jones, Peter D., additional, Jousilahti, Pekka, additional, Mägi, Reedik, additional, Medland, Sarah E., additional, Montgomery, Grant W., additional, Nyholt, Dale R., additional, Perola, Markus, additional, Pietiläinen, Kirsi H., additional, Salomaa, Veikko, additional, Sillanpää, Elina, additional, Suchiman, H. Eka, additional, van Heemst, Diana, additional, Willemsen, Gonneke, additional, Agudo, Antonio, additional, Boeing, Heiner, additional, Boomsma, Dorret I., additional, Chirlaque, Maria-Dolores, additional, Fagherazzi, Guy, additional, Ferrari, Pietro, additional, Franks, Paul, additional, Gieger, Christian, additional, Eriksson, Johan Gunnar, additional, Gunter, Marc, additional, Hägg, Sara, additional, Hovatta, Iiris, additional, Imaz, Liher, additional, Kaprio, Jaakko, additional, Kaaks, Rudolf, additional, Key, Timothy, additional, Krogh, Vittorio, additional, Martin, Nicholas G., additional, Melander, Olle, additional, Metspalu, Andres, additional, Moreno, Concha, additional, Onland-Moret, N. Charlotte, additional, Nilsson, Peter, additional, Ong, Ken K., additional, Overvad, Kim, additional, Palli, Domenico, additional, Panico, Salvatore, additional, Pedersen, Nancy L., additional, Penninx, Brenda W.J. H., additional, Quirós, J. Ramón, additional, Jarvelin, Marjo Riitta, additional, Rodríguez-Barranco, Miguel, additional, Scott, Robert A., additional, Severi, Gianluca, additional, Slagboom, P. Eline, additional, Spector, Tim D., additional, Tjonneland, Anne, additional, Trichopoulou, Antonia, additional, Tumino, Rosario, additional, Uitterlinden, André G., additional, van der Schouw, Yvonne T., additional, van Duijn, Cornelia M., additional, Weiderpass, Elisabete, additional, Denchi, Eros Lazzerini, additional, Matullo, Giuseppe, additional, Butterworth, Adam S., additional, Danesh, John, additional, Samani, Nilesh J., additional, Wareham, Nicholas J., additional, Nelson, Christopher P., additional, Langenberg, Claudia, additional, and Codd, Veryan, additional
- Published
- 2020
- Full Text
- View/download PDF
10. Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
- Author
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Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Boeing, Heiner (Prof. Dr.), Langenberg, Claudia, and Codd, Veryan
- Subjects
ddc:570 ,Institut für Ernährungswissenschaft - Abstract
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
- Published
- 2019
11. Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
- Author
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Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Boeing, Heiner, Langenberg, Claudia, and Codd, Veryan
- Subjects
3. Good health ,570 Biowissenschaften ,Biologie - Abstract
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease., Zweitver��ffentlichungen der Universit��t Potsdam : Mathematisch-Naturwissenschaftliche Reihe; 1205
12. Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- Author
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Li, Chen, Stoma, Svetlana, Lotta, Luca A, Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P, Broer, Linda, Buxton, Jessica L, Da Silva Couto Alves, Alexessander, Deelen, Joris, Fedko, Iryna O, Gordon, Scott D, Jiang, Tao, Karlsson, Robert, Kerrison, Nicola, Loe, Taylor K, Mangino, Massimo, Milaneschi, Yuri, Miraglio, Benjamin, Pervjakova, Natalia, Russo, Alessia, Surakka, Ida, Van Der Spek, Ashley, Verhoeven, Josine E, Amin, Najaf, Beekman, Marian, Blakemore, Alexandra I, Canzian, Federico, Hamby, Stephen E, Hottenga, Jouke-Jan, Jones, Peter D, Jousilahti, Pekka, Mägi, Reedik, Medland, Sarah E, Montgomery, Grant W, Nyholt, Dale R, Perola, Markus, Pietiläinen, Kirsi H, Salomaa, Veikko, Sillanpää, Elina, Suchiman, H Eka, Van Heemst, Diana, Willemsen, Gonneke, Agudo, Antonio, Boeing, Heiner, Boomsma, Dorret I, Chirlaque, Maria-Dolores, Fagherazzi, Guy, Ferrari, Pietro, Franks, Paul, Gieger, Christian, Eriksson, Johan Gunnar, Gunter, Marc, Hägg, Sara, Hovatta, Iiris, Imaz, Liher, Kaprio, Jaakko, Kaaks, Rudolf, Key, Timothy, Krogh, Vittorio, Martin, Nicholas G, Melander, Olle, Metspalu, Andres, Moreno, Concha, Onland-Moret, N Charlotte, Nilsson, Peter, Ong, Ken K, Overvad, Kim, Palli, Domenico, Panico, Salvatore, Pedersen, Nancy L, Penninx, Brenda WJH, Quirós, J Ramón, Jarvelin, Marjo Riitta, Rodríguez-Barranco, Miguel, Scott, Robert A, Severi, Gianluca, Slagboom, P Eline, Spector, Tim D, Tjonneland, Anne, Trichopoulou, Antonia, Tumino, Rosario, Uitterlinden, André G, Van Der Schouw, Yvonne T, Van Duijn, Cornelia M, Weiderpass, Elisabete, Denchi, Eros Lazzerini, Matullo, Giuseppe, Butterworth, Adam S, Danesh, John, Samani, Nilesh J, Wareham, Nicholas J, Nelson, Christopher P, Langenberg, Claudia, and Codd, Veryan
- Subjects
age-related disease ,Nucleotides ,biological aging ,telomere length ,Leukocytes ,Humans ,Telomere ,Mendelian randomisation ,3. Good health ,Genome-Wide Association Study - Abstract
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
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