Overview
Background
My group's research uses large-scale genomic data to address knowledge gaps in disease, with a particular focus on cardiovascular disease.
Research programme
1. Cardiovascular disease research using big-data and genomics: with the goal of improving prevention and treatment of cardiovascular disease. By focusing on underrepresented groups, including women, my research aims to also address inequity in cardiovascular outcomes. I am the lead of the South Asian Genes and Health in Australia (SAGHA) study, which aims to increase representation of Australian South Asians in cardiovascular and genomics research. See saghaus.org for further details.
2. Drug genomics: I'm interested in using genomic approaches to predict drug effects, including identification of drug repurposing opportunities as well as identifying unknown adverse effects of medication.
3. Liver transplant research: In this collaboration with the QLD Liver Transplant Unit, we are using genomics to understand the effect of normo-thermic perfusion (a new organ storage method) on liver function, with the long-term goal of improving our ability to predict transplant outcomes.
Career summary: I was awarded my PhD from University College London (UK) in cardiovascular genetics. I began my post-doctoral fellowship under the mentorship of Prof Peter Visscher at the Queensland Brain Institute in 2013. Between 2016-2018, I was the lead analyst for the International Heart Failure Genetics Consortium (HERMES). In 2018, I was awarded an NHMRC Early Career Researcher Fellowship to investigate the relationship between cardiovascular and brain-related disorders using large-scale genetic and genomic data, under the mentorship of Prof Naomi Wray. I currently hold a National Heart Foundation Future Leader Fellowship.
Recognition:
2024 Australian Academy of Science Ruth Stephens Gani Medal for outstanding contribution to genetics research
2023 1 of 5 global finalists for the Nature Inspiring Women in Science (Scientific Achievement Award)
2023 Lifesciences QLD Rose-Anne Kelso Award
2023: Named in Australia's Top 25 Women in Science by Newscorp
2022 Queensland Young Tall Poppy Award
2022 UQ Foundation Research Excellence Award
2021/2022 Australian Superstar of STEM,
2020 Genetic Society of Australasia Early Career Award
2020 Women in Technology Rising Star Science Award
Availability
- Associate Professor Sonia Shah is:
- Available for supervision
- Media expert
Fields of research
Qualifications
- Masters (Coursework) of Science, The University of Manchester
- Doctor of Philosophy, University College London
Research impacts
Advancing knowledge in cardiovascular disease
Familial Hypercholesterolemia (FH) is a preventable cause of premature disease and death and is relatively common in the general population (~ 1 in 250). FH is considered a monogenic disease, though a monogenic mutation is only identified in ~30% of FH patients. This paradigm-shifting research on FH demonstrated a polygenic contribution to FH (Talmud P et al Lancet 2013;381:1293-301; FWCI 34.8), as a result of which the UK NICE guidelines on FH management were updated, and several UK Diagnostic Laboratories have implemented an additional polygenic test in FH patients, with reports of positive psychosocial impact on patients (Futema et al 2021, Journal of Lipid Research 62:100139). This research is cited in a patent (WO2014181107A1 - Genetic Method of Aiding The Diagnosis and Treatment of Familial Hypercholesterolemia). It has been used to develop a new disease category, termed ‘Polygenic Hypercholesterolemia’, https://www.heartuk.org.uk/genetic-conditions/polygenic-hypercholesterolaemia), cited in the NHS Chief Medical Officer 2016 annual report focused on how genomics can improve health.
I was part of the executive committee for the largest international heart failure consortium (HERMES https://www.hermesconsortium.org/) and co-led the largest (published) genome-wide association study on heart failure (Shah S et al Nat Commun 2020;11:296; FWCI 15.3) at the time, identifying novel disease biology. Our heart failure study has been cited >280 times in 3 years since publication, and has led to new avenues for drug development (e.g. Schmidt AF et al Nat Commun 2020:11:3255).
Demonstrating potential clinical application of genomic data
We demonstrated for the first time that genome-wide DNA methylation data may be useful for predicting human phenotypes over and above genetic data (Shah S et al Am J Hum Genet 2015;97:1; FWCI 2.8), as well as future health outcomes including mortality and (Marioni R et al Genome Biology 2015;16:25; FWCI 27.4). This research has been cited in 3 patents (e.g. WO-2018150042- A1 - DNA methylation signatures for determining a survival probability, which is using the findings to develop tests for clinical use), in two books (Handbook of Epigenetics (3rd Edition) and Aging: From Fundamental Biology to Societal Impact), highlighted in the online media site “The Conversation” and cited in the Wikipedia page on ‘Epigenetic Clock’.
Works
Search Professor Sonia Shah’s works on UQ eSpace
2018
Journal Article
Identification of 55,000 replicated DNA methylation QTL
McRae, Allan F., Marioni, Riccardo E., Shah, Sonia, Yang, Jian, Powell, Joseph E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Bowdler, Lisa, Painter, Jodie N., Murphy, Lee, Martin, Nicholas G., Starr, John M., Wray, Naomi R., Deary, Ian J., Visscher, Peter M. and Montgomery, Grant W. (2018). Identification of 55,000 replicated DNA methylation QTL. Scientific Reports, 8 (1) 17605, 17605. doi: 10.1038/s41598-018-35871-w
2017
Journal Article
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1
2017
Journal Article
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort
Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017). Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 (4), 418-428. doi: 10.1002/mgg3.302
2017
Journal Article
A genomic atlas of human adrenal and gonad development
Del Valle, Ignacio, Buonocore, Federica, Duncan, Andrew J., Lin, Lin, Barenco, Martino, Parnaik, Rahul, Shah, Sonia, Hubank, Mike, Gerrelli, Dianne and Achermann, John C. (2017). A genomic atlas of human adrenal and gonad development. Wellcome Open Research, 2 25, 1-42. doi: 10.12688/wellcomeopenres.11253.2
2017
Journal Article
Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies
Hedman, Åsa K., Mendelson, Michael M., Marioni, Riccardo E., Gustafsson, Stefan, Joehanes, Roby, Irvin, Marguerite R., Zhi, Degui, Sandling, Johanna K., Yao, Chen, Liu, Chunyu, Liang, Liming, Huan, Tianxiao, McRae, Allan F., Demissie, Serkalem, Shah, Sonia, Starr, John M., Cupples, L. Adrienne, Deloukas, Panos, Spector, Timothy D., Sundstrom, Johan, Krauss, Ronald M., Arnett, Donna K., Deary, Ian J., Lind, Lars, Levy, Daniel and Ingelsson, Erik (2017). Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies. Circulation: Cardiovascular Genetics, 10 (1) 001487. doi: 10.1161/CIRCGENETICS.116.001487
2017
Journal Article
Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach
Mendelson, Michael M., Marioni, Riccardo E., Joehanes, Roby, Liu, Chunyu, Hedman, Åsa K., Aslibekyan, Stella, Demerath, Ellen W., Guan, Weihua, Zhi, Degui, Yao, Chen, Huan, Tianxiao, Willinger, Christine, Chen, Brian, Courchesne, Paul, Multhaup, Michael, Irvin, Marguerite R., Cohain, Ariella, Schadt, Eric E., Grove, Megan L., Bressler, Jan, North, Kari, Sundstrom, Johan, Gustafsson, Stefan, Shah, Sonia, McRae, Allan F., Harris, Sarah E., Gibson, Jude, Redmond, Paul, Corley, Janie ... Deary, Ian J. (2017). Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach. PLoS Medicine, 14 (1) e1002215, e1002215. doi: 10.1371/journal.pmed.1002215
2016
Journal Article
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases
Ligthart, Symen, Marzi, Carola, Aslibekyan, Stella, Mendelson, Michael M., Conneely, Karen N., Tanaka, Toshiko, Colicino, Elena, Waite, Lindsay L., Joehanes, Roby, Guan, Weihua, Brody, Jennifer A., Elks, Cathy, Marioni, Riccardo, Jhun, Min A., Agha, Golareh, Bressler, Jan, Ward-Caviness, Cavin K., Chen, Brian H., Huan, Tianxiao, Bakulski, Kelly, Salfati, Elias L., Fiorito, Giovanni, Wahl, Simone, Schramm, Katharina, Sha, Jin, Hernandez, Dena G., Just, Allan C., Smith, Jennifer A., Sotoodehnia, Nona ... Dehghan, Abbas (2016). DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biology, 17 (1) 255, 255-255. doi: 10.1186/s13059-016-1119-5
2016
Journal Article
A DNA methylation biomarker of alcohol consumption
Liu, C., Marioni, R. E., Hedman, K., Pfeiffer, L., Tsai, P. -C., Reynolds, L. M., Just, A. C., Duan, Q., Boer, C. G., Tanaka, T., Elks, C. E., Aslibekyan, S., Brody, J. A., Kuhnel, B., Herder, C., Almli, L. M., Zhi, D., Wang, Y., Huan, T., Yao, C., Mendelson, M. M., Joehanes, R., Liang, L., Love, S. -A., Guan, W., Shah, S., McRae, A. F., Kretschmer, A., Prokisch, H. ... Levy, D. (2016). A DNA methylation biomarker of alcohol consumption. Molecular Psychiatry, 23 (2), 422-433. doi: 10.1038/mp.2016.192
2016
Journal Article
Epigenetic signatures of cigarette smoking
Joehanes, Roby, Just, Allan C., Marioni, Riccardo E., Pilling, Luke C., Reynolds, Lindsay M., Mandaviya, Pooja R., Guan, Weihua, Xu, Tao, Elks, Cathy E., Aslibekyan, Stella, Moreno-Macias, Hortensia, Smith, Jennifer A., Brody, Jennifer A., Dhingra, Radhika, Yousefi, Paul, Pankow, James S., Kunze, Sonja, Shah, Sonia H., McRae, Allan F., Lohman, Kurt, Sha, Jin, Absher, Devin M., Ferrucci, Luigi, Zhao, Wei, Demerath, Ellen W., Bressler, Jan, Grove, Megan L., Huan, Tianxiao, Liu, Chunyu ... London, Stephanie J. (2016). Epigenetic signatures of cigarette smoking. Circulation: Cardiovascular Genetics, 9 (5), 436-447. doi: 10.1161/CIRCGENETICS.116.001506
2016
Journal Article
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Ehret, G.B., Ferreira, T., Chasman, D.I., Jackson, A.U., Schmidt, E.M., Johnson, T., Thorleifsson, G., Luan, J., Donnelly, L.A., Kanoni, S., Petersen, A.-K., Pihur, V., Strawbridge, R.J., Shungin, D., Hughes, M.F., Meirelles, O., Kaakinen, M., Bouatia-Naji, N., Kristiansson, K., Shah, S., Kleber, M.E., Guo, X., Lyytikainen, L.-P., Fava, C., Eriksson, N., Nolte, I.M., Magnusson, P.K., Salfati, E.L., Rallidis, L.S. ... Munroe, P.B. (2016). The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics, 48 (10), 1171-1184. doi: 10.1038/ng.3667
2016
Journal Article
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies
Swerdlow, Daniel I., Kuchenbaecker, Karoline B., Shah, Sonia, Sofat, Reecha, Holmes, Michael V., White, Jon, Mindell, Jennifer S., Kivimaki, Mika, Brunner, Eric J., Whittaker, John C., Casas, Juan P. and Hingorani, Aroon D. (2016). Selecting instruments for Mendelian randomization in the wake of genome-wide association studies. International Journal of Epidemiology, 45 (5), 1600-1616. doi: 10.1093/ije/dyw088
2016
Journal Article
Replication and characterization of association between ABO SNPs and red blood cell traits by meta-analysis in Europeans
McLachlan, Stela, Giambartolomei, Claudia, White, Jon, Charoen, Pimphen, Wong, Andrew, Finan, Chris, Engmann, Jorgen, Shah, Tina, Hersch, Micha, Podmore, Clara, Cavadino, Alana, Jefferis, Barbara J., Dale, Caroline E., Hypponen, Elina, Morris, Richard W., Casas, Juan P., Kumari, Meena, Ben-Shlomo, Yoav, Gaunt, Tom R., Drenos, Fotios, Langenberg, Claudia, Kuh, Diana, Kivimaki, Mika, Rueedi, Rico, Waeber, Gerard, Hingorani, Aroon D., Price, Jacqueline F., Walker, Ann P., Cooper, Jackie ... Zabaneh, Delilah (2016). Replication and characterization of association between ABO SNPs and red blood cell traits by meta-analysis in Europeans. PLoS ONE, 11 (6) e0156914, e0156914. doi: 10.1371/journal.pone.0156914
2016
Journal Article
Corrigendum: The epigenetic clock and telomere length are independently associated with chronological age and mortality [Int J Epidemiol., 45, 2, (424-432)(2016)] DOI: 10.1093/ije/dyw041
Marioni, Riccardo E., Harris, Sarah E., Shah, Sonia, McRae, Allan F., von Zglinicki, Thomas, Martin-Ruiz, Carmen, Wray, Naomi R., Visscher, Peter M. and Deary, Ian J. (2016). Corrigendum: The epigenetic clock and telomere length are independently associated with chronological age and mortality [Int J Epidemiol., 45, 2, (424-432)(2016)] DOI: 10.1093/ije/dyw041. International Journal of Epidemiology, 47 (1) dyx217, 356-356. doi: 10.1093/ije/dyx233
2016
Journal Article
The epigenetic clock and telomere length are independently associated with chronological age and mortality
Marioni, Riccardo E., Harris, Sarah E., Shah, Sonia, McRae, Allan F., von Zglinicki, Thomas, Martin-Ruiz, Carmen, Wray, Naomi R., Visscher, Peter M. and Deary, Ian J. (2016). The epigenetic clock and telomere length are independently associated with chronological age and mortality. International Journal of Epidemiology, 45 (2), 424-432. doi: 10.1093/ije/dyw041
2016
Journal Article
Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis
White, Jon, Sofat, Reecho, Hemani, Gibran, Shah, Tina, Engmann, Jorgen, Dale, Caroline, Shah, Sonia, Kruger, Felix A., Giambartolomei, Claudio, Swerdlow, Daniel I., Palmer, Tom, McLachlan, Stela, Langenberg, Claudia, Zabaneh, Delilah, Lovering, Ruth, Cavadino, Alana, Jefferis, Barbara, Finan, Chris, Wong, Andrew, Amuzu, Antoinette, Ong, Ken, Gaunt, Tom R., Warren, Helen, Davies, Teri-Louise, Drenos, Fotios, Cooper, Jackie, Ebrahim, Shah, Lawlor, Debbie A., Talmud, Philippa J. ... Hingorani, Aroon D. (2016). Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis. The Lancet Diabetes and Endocrinology, 4 (4), 327-336. doi: 10.1016/S2213-8587(15)00386-1
2016
Journal Article
DNA methylation-based measures of biological age: meta-analysis predicting time to death
Chen, Brian H., Marioni, Riccardo E., Colicino, Elena, Peters, Marjolein J., Ward-Caviness, Cavin K., Tsai, Pei-Chien, Roetker, Nicholas S., Just, Allan C., Demerath, Ellen W., Guan, Weihua, Bressler, Jan, Fornage, Myriam, Studenski, Stephanie, Vandiver, Amy R., Moore, Ann Zenobia, Tanaka, Toshiko, Kiel, Douglas P., Liang, Liming, Vokonas, Pantel, Schwartz, Joel, Lunetta, Kathryn L., Murabito, Joanne M., Bandinelli, Stefania, Hernandez, Dena G., Melzer, David, Nalls, Michael, Pilling, Luke C., Price, Timothy R., Singleton, Andrew B. ... Horvath, Steve (2016). DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging, 8 (9), 1844-1865. doi: 10.18632/aging.101020
2015
Journal Article
Sharing a placenta is associated with a greater similarity in DNA methylation in monochorionic versus dichorionic twin pars in blood at age 14
Bui, Masato, Benyamin, Beben, Shah, Sonia, Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W. and McRae, Allan F. (2015). Sharing a placenta is associated with a greater similarity in DNA methylation in monochorionic versus dichorionic twin pars in blood at age 14. Twin Research and Human Genetics, 18 (6), 680-685. doi: 10.1017/thg.2015.87
2015
Journal Article
The epigenetic clock is correlated with physical and cognitive fitness in the Lothian Birth Cohort 1936
Marioni, Riccardo E., Shah, Sonia, McRae, Allan F., Ritchie, Stuart J., Muniz-Terrera, Graciela, Harris, Sarah E., Gibson, Jude, Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Taylor, Adele, Murphy, Lee, Starr, John M., Horvath, Steve, Visscher, Peter M., Wray, Naomi R. and Deary, Ian J. (2015). The epigenetic clock is correlated with physical and cognitive fitness in the Lothian Birth Cohort 1936. International Journal of Epidemiology, 44 (4), 1388-1396. doi: 10.1093/ije/dyu277
2015
Journal Article
Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease
Persson, Jonas, Strawbridge, Rona J., McLeod, Olga, Gertow, Karl, Silveira, Angela, Baldassarre, Damiano, Van Zuydam, Natalie, Shah, Sonia, Fava, Cristiano, Gustafsson, Stefan, Veglia, Fabrizio, Sennblad, Bengt, Larsson, Malin, Sabater-Lleal, Maria, Leander, Karin, Gigante, Bruna, Tabak, Adam, Kivimaki, Mika, Kauhanen, Jussi, Rauramaa, Rainer, Smit, Andries J., Mannarino, Elmo, Giral, Philippe, Humphries, Steve E., Tremoli, Elena, de Faire, Ulf, Lind, Lars, Ingelsson, Erik, Hedblad, Bo ... Soderberg, Stefan (2015). Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease. Journal of the American Heart Association, 4 (8) e001853, 1-13. doi: 10.1161/JAHA.115.001853
2015
Journal Article
Improving phenotypic prediction by combining genetic and epigenetic associations
Shah, Sonia, Bonder, Marc J., Marioni, Riccardo E., Zhu, Zhihong, McRae, Allan F., Zhernakova, Alexandra, Harris, Sarah E., Liewald, Dave, Henders, Anjali K., Mendelson, Michael M., Liu, Chunyu, Joehanes, Roby, Liang, Liming, Levy, Daniel, Martin, Nicholas G., Starr, John M., Wijmenga, Cisca, Wray, Naomi R., Yang, Jian, Montgomery, Grant W., Franke, Luke, Deary, Ian J., Visscher, Peter M. and BIOS Consortium (2015). Improving phenotypic prediction by combining genetic and epigenetic associations. American Journal of Human Genetics, 97 (1), 75-85. doi: 10.1016/j.ajhg.2015.05.014
Funding
Current funding
Past funding
Supervision
Availability
- Associate Professor Sonia Shah is:
- Available for supervision
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Supervision history
Current supervision
-
Doctor Philosophy
Investigating sex differences in cardiovascular risk factors using genomic data
Principal Advisor
-
Doctor Philosophy
Using Genetics and Artificial Intelligence to Support Disease Prediction and Diagnosis
Principal Advisor
-
Doctor Philosophy
Using genomics to predict the mechanism-of-action of a chemical entity
Principal Advisor
Other advisors: Professor Irina Vetter
-
Doctor Philosophy
Understanding genetic adaptation of the heart to extreme environments
Associate Advisor
Other advisors: Professor Nathan Palpant
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Doctor Philosophy
Using genetics to predict drug efficacy and on-target side effects of pharmacological agents
Associate Advisor
Other advisors: Professor Glenn King, Professor David Evans
Completed supervision
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2024
Doctor Philosophy
Using Transcriptomics technologies in health-related research: Applications and Challenges
Principal Advisor
Other advisors: Dr Quan Nguyen
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2024
Doctor Philosophy
Using genomic data to advance understanding of heart failure aetiology
Principal Advisor
Other advisors: Professor Naomi Wray
Media
Enquiries
Contact Associate Professor Sonia Shah directly for media enquiries about:
- cardiovascular disease
- genetics
- genomics
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