Article
Endocrinology & Metabolism
Yixuan He, Chirag M. Lakhani, Danielle Rasooly, Arjun K. Manrai, Ioanna Tzoulaki, Chirag J. Patel
Summary: The study established a polyexposure score (PXS) for type 2 diabetes and found that it provides modest incremental predictive value over traditional clinical risk factors. Adding PXS and polygenic risk score (PGS) improved T2D classification accuracy, indicating their potential usefulness in chronic disease risk prediction models.
Article
Biochemistry & Molecular Biology
Yanina Timasheva, Zhanna Balkhiyarova, Diana Avzaletdinova, Irina Rassoleeva, Tatiana V. V. Morugova, Gulnaz Korytina, Inga Prokopenko, Olga Kochetova
Summary: We tested 13 genetic variants for their association with type 2 diabetes in a study involving 1371 participants from the Volga-Ural region. We found significant associations with certain polymorphisms and identified a predictive model that included genetic and non-genetic risk factors. The inclusion of polygenic scores for the T2D-associated variants improved the predictive ability compared to models with only non-genetic parameters.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Chi Kuen Wong, Enes Makalic, Gillian S. Dite, Lawrence Whiting, Nicholas M. Murphy, John L. Hopper, Richard Allman
Summary: Polygenic risk scores (PRSs) are a promising approach to accurately predict an individual's risk of developing disease. In this study, the researchers developed PRSs to predict different diseases using the stacked clumping and thresholding method and a variation called maximum clumping and thresholding method. They controlled for age and sex in their case-control training datasets and found that the maximum clumping and thresholding PRSs required fewer single-nucleotide polymorphisms but had similar discriminatory ability compared to the stacked clumping and thresholding PRSs.
Article
Endocrinology & Metabolism
Aaron J. J. Deutsch, Philip H. H. Schroeder, Ravi Mandla, Sarah Kang, Feyza Erenler, Josep M. M. Mercader, Miriam S. S. Udler, Jose C. C. Florez, Laura N. N. Brenner
Summary: The objective of this study was to assess the association between increased genetic risk of type 2 diabetes and the development of hyperglycemia after glucocorticoid treatment. The analysis found that individuals with higher genetic risk had a higher risk of glucocorticoid-induced hyperglycemia. This finding suggests the potential for risk stratification in precision medical treatment.
Article
Multidisciplinary Sciences
Sandhya Kiran Pemmasani, Shravya Atmakuri, Anuradha Acharya
Summary: This study aimed to develop and test polygenic risk scores (PRS) for the Indian population for Type 2 Diabetes (T2D). The PRS showed a significant association with T2D and demonstrated its potential as a prognostic metric for stratifying individuals.
SCIENTIFIC REPORTS
(2023)
Article
Food Science & Technology
Xuzhi Wan, Xiaohui Liu, Lange Zhang, Pan Zhuang, Jingjing Jiao, Yu Zhang
Summary: This study aimed to assess the relations between potato consumption and the risk of T2D and whether the relationship was modified by the genetic predisposition to T2D. The study found that the consumption of total potatoes, mashed potatoes, and fried potatoes were positively associated with higher T2D risk. Replacing one serving of potatoes with non-starchy vegetables was associated with a 12% lower T2D risk.
FOOD RESEARCH INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
Lauren E. Wedekind, Anubha Mahajan, Wen-Chi Hsueh, Peng Chen, Muideen T. Olaiya, Sayuko Kobes, Madhumita Sinha, Leslie J. Baier, William C. Knowler, Mark I. McCarthy, Robert L. Hanson
Summary: This study examines the contribution of polygenic scores (PSs) based on genome-wide association studies (GWASs) to predict type 2 diabetes incidence in non-European-ancestry populations. The results show that the PSs have similar predictive power as clinical variables and can assist in identifying individuals at higher risk, particularly in younger populations.
Article
Biochemistry & Molecular Biology
Iain S. Forrest, Kumardeep Chaudhary, Ishan Paranjpe, Ha My T. Vy, Carla Marquez-Luna, Ghislain Rocheleau, Aparna Saha, Lili Chan, Tielman Van Vleck, Ruth J. F. Loos, Judy Cho, Louis R. Pasquale, Girish N. Nadkarni, Ron Do
Summary: This study revealed the significant genetic predisposition of DR and the association of PRS with DR diagnosis, symptoms, complications, and time to diagnosis, with varying degrees of association across different ancestral groups. The findings emphasize the importance of diverse ancestries in biobanks for developing multi-ancestral PRS.
HUMAN MOLECULAR GENETICS
(2021)
Article
Multidisciplinary Sciences
Dale Hardy, Jane Garvin, Tesfaye Mersha
Summary: This study investigated the associations, interactions, and mediational relationships between a polygenic risk score (PRS), carbohydrate and protein intake, and physical activity level on type 2 diabetes (T2DM) by genetic ancestry, in European Americans and African Americans. The results showed that a diet with higher carbohydrate and lower protein intake is beneficial for diabetes control, especially for African Americans. Moderate physical activity and intermittent fasting can activate metabolic pathways associated with better T2DM control.
Article
Nutrition & Dietetics
Haeng Jeon Hur, Hye Jeong Yang, Min Jung Kim, Kyun-Hee Lee, Myung-Sunny Kim, Sunmin Park
Summary: The study revealed that the development of T2DM in Asians is closely linked to the regulation of pancreatic beta-cell mass and function, with genetic impacts interacting with unhealthy lifestyle factors to further increase the risk of the disease.
Article
Endocrinology & Metabolism
Julia Carrasco-Zanini, Maik Pietzner, Eleanor Wheeler, Nicola D. Kerrison, Claudia Langenberg, Nicholas J. Wareham
Summary: By combining omics biomarkers with clinical models, the predictive performance for type 2 diabetes can be significantly improved.
Article
Nutrition & Dietetics
Jia Liu, Lu Wang, Xuan Cui, Qian Shen, Dun Wu, Man Yang, Yunqiu Dong, Yongchao Liu, Hai Chen, Zhijie Yang, Yaqi Liu, Meng Zhu, Hongxia Ma, Guangfu Jin, Yun Qian
Summary: The aim of this study was to generate a polygenic risk score (PRS) for type 2 diabetes (T2D) and investigate its potential use in identifying high-risk individuals for lifestyle intervention among the Chinese population. The results showed that participants with a high PRS had a two-fold higher risk of developing T2D compared to those with a low PRS. Additionally, adopting a healthy lifestyle could reduce the disease risk of high-PRS individuals and improve the accuracy of risk stratification based on traditional clinical risk factors.
Article
Endocrinology & Metabolism
Daniel DiCorpo, Jessica LeClair, Joanne B. Cole, Chloe Sarnowski, Fariba Ahmadizar, Lawrence F. Bielak, Anneke Blokstra, Erwin P. Bottinger, Layal Chaker, Yii-Der Chen, Ye Chen, Paul S. de Vries, Tariq Faquih, Mohsen Ghanbari, Valborg Gudmundsdottir, Xiuqing Guo, Natalie R. Hasbani, Dorina Ibi, M. Arfan Ikram, Maryam Kavousi, Hampton L. Leonard, Aaron Leong, Josep M. Mercader, Alanna C. Morrison, Girish N. Nadkarni, Mike A. Nalls, Raymond Noordam, Michael Preuss, Jennifer A. Smith, Stella Trompet, Petra Vissink, Jie Yao, Wei Zhao, Eric Boerwinkle, Mark O. Goodarzi, Vilmundur Gudnason, J. Wouter Jukema, Sharon L. R. Kardia, Ruth J. F. Loos, Ching-Ti Liu, Alisa K. Manning, Dennis Mook-Kanamori, James S. Pankow, H. Susan J. Picavet, Naveed Sattar, Eleanor M. Simonsick, W. M. Monique Verschuren, Ko Willems van Dijk, Jose C. Florez, Jerome Rotter, James B. Meigs, Josee Dupuis, Miriam S. Udler
Summary: This study finds that the genetic basis of type 2 diabetes (T2D) is closely related to the clinical characteristics and outcomes of patients.
Article
Health Care Sciences & Services
Avigail Moldovan, Yedael Y. Waldman, Nadav Brandes, Michal Linial
Summary: In the post-genomic era, elucidating the genetic basis of human diseases is a major challenge. Recent studies have shown that polygenic risk scores (PRS) can estimate individual risk for common diseases by combining aggregated information from millions of variants across the human genome. Integrating PRS with clinical metrics and age can significantly enhance disease prediction, particularly from early life, for conditions like type 2 diabetes.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Endocrinology & Metabolism
Farida S. S. Akhtari, Dillon Lloyd, Adam Burkholder, Xiaoran Tong, John S. S. House, Eunice Y. Y. Lee, John Buse, Shepherd H. H. Schurman, David C. C. Fargo, Charles P. P. Schmitt, Janet Hall, Alison A. A. Motsinger-Reif
Summary: This study found that environmental exposures may have a stronger predictive power for type 2 diabetes than polygenic scores. They also discovered associations between type 2 diabetes and environmental factors such as exposure to asbestos and coal dust. Environmental factors have a greater impact on the disease compared to genetic factors. The study highlights the importance of conducting comprehensive genetic and exposome studies in diverse populations.
Article
Clinical Neurology
Victoria Taylor-Bateman, Dipender Gill, Marios Georgakis, Rainer Malik, Patricia Munroe, Matthew Traylor
Summary: Genetic predisposition to higher blood pressure and BMI is associated with a higher burden of CSVD, suggesting a causal role. Improved management and treatment of these risk factors could reduce the burden of CSVD.
Article
Biochemistry & Molecular Biology
Abram B. Kamiza, Sounkou M. Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S. Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S. Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A. Motala, Tinashe Chikowore, Segun Fatumo
Summary: A study has found that polygenic scores for lipid traits derived from African American individuals have high predictive value in a South African Zulu cohort, but not in a cohort from Uganda. This highlights the need to improve polygenic predictions in populations of African ancestries.
Article
Multidisciplinary Sciences
David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Bas, James S. Pankowf, Weihong Tang, Nathan Pankratz, Maria Sabater-Llear, Paul S. de Vries, Nicholas L. Smith, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul
Summary: This study provides a framework to reveal genetic cross-disease associations at the PROCR vascular disease locus, linking PROCR-219Gly to coronary artery disease through anti-inflammatory mechanisms and to venous thromboembolism through pro-thrombotic mechanisms.
NATURE COMMUNICATIONS
(2022)
Article
Endocrinology & Metabolism
Amy E. Mendham, Lisa K. Micklesfield, Fredrik Karpe, Andre Pascal Kengne, Tinashe Chikowore, Clement N. Kufe, Maphoko Masemola, Nigel J. Crowther, Shane A. Norris, Tommy Olsson, Solve Elmstahl, Tove Fall, Lars Lind, Julia H. Goedecke
Summary: Using a targeted proteomics approach, this study aimed to identify and validate circulating proteins associated with impaired glucose metabolism and type 2 diabetes in a Black South African cohort. The results identified 34 proteins associated with type 2 diabetes, of which 11 were associated with measures of type 2 diabetes pathophysiology. This study highlights the similarity of biomarkers between different populations and emphasizes the need for validation in African cohorts.
Article
Biochemistry & Molecular Biology
Brenda Udosen, Opeyemi Soremekun, Abram Kamiza, Tafadzwa Machipisa, Cisse Cheickna, Olaposi Omotuyi, Mahmoud Soliman, Mamadou Wele, Oyekanmi Nashiru, Tinashe Chikowore, Segun Fatumo
Summary: High blood pressure is a major risk factor for cardiovascular diseases in populations including individuals of African ancestry. However, limited genetic studies have been conducted to explore the genetic mechanism driving this phenomenon. This study performed genome-wide association analyses and identified independent genetic variants associated with blood pressure traits in individuals of African ancestry. The findings provide important insights into the molecular mechanisms underlying the genetics of blood pressure and have implications for further research and fine-mapping of high-risk loci/variants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Public, Environmental & Occupational Health
Monica Muti, Lisa J. Ware, Lisa K. Micklesfield, Michele Ramsay, Godfred Agongo, Palwende R. Boua, Isaac Kisiangani, Ian Cook, Francesc Xavier Gomez-Olive, Nigel J. Crowther, Chodziwadziwa Kabudula, Shane A. Norris, Tinashe Chikowore
Summary: This study explores the association between self-reported physical activity and body mass index (BMI) in African adults. Results show that meeting physical activity guidelines is associated with lower BMI in both men and women. There are also site-specific differences in the associations between physical activity domains and BMI. In conclusion, physical activity may be an effective strategy to address obesity in Africa, but more research is needed to assess the impact of interventions tailored to gender and geographic location.
JOURNAL OF PHYSICAL ACTIVITY & HEALTH
(2023)
Article
Multidisciplinary Sciences
Chisom Soremekun, Tafadzwa Machipisa, Opeyemi Soremekun, Fraser Pirie, Nashiru Oyekanmi, Ayesha A. A. Motala, Tinashe Chikowore, Segun Fatumo
Summary: This study aimed to identify genetic loci associated with liver biomarker levels that have a shared genetic basis in African populations. By using a multivariate genome-wide association study (GWAS) approach, the study found 59 SNPs significantly associated with liver biomarker levels. The results suggest that the multivariate GWAS method improves the power to detect genotype-phenotype associations for liver functions.
Article
Nutrition & Dietetics
Gudani Mukoma, Shane A. Norris, Tinashe Chikowore
Summary: The study aimed to evaluate the association between nutrient patterns and general adiposity in black South African adolescents and adults, and to determine whether these associations are longitudinally sustained over 24 months. The results showed that nutrient patterns were similar between adolescents and adults, but their associations with BMI differed. This finding has important implications for future nutrition interventions.
Article
Medicine, General & Internal
Christopher Kintu, Opeyemi Soremekun, Abram B. Kamiza, Allan Kalungi, Richard Mayanja, Robert Kalyesubula, S. Bernard Bagaya, Daudi Jjingo, June Fabian, Dipender Gill, Moffat Nyirenda, Dorothea Nitsch, Tinashe Chikowore, Segun Fatumo
Summary: In individuals of African ancestry, genetically predicted lower LDL-C and TC are causally associated with higher eGFR levels in a U-shaped manner. Lowering LDL-C does not necessarily improve the risk of kidney disease. Further research is needed to confirm the potential association between lipid traits and the risk of kidney disease in individuals of African ancestry.
Article
Biotechnology & Applied Microbiology
Christopher Kintu, Opeyemi Soremekun, Tafadzwa Machipisa, Richard Mayanja, Robert Kalyesubula, Bernard S. Bagaya, Daudi Jjingo, Tinashe Chikowore, Segun Fatumo
Summary: Despite efforts to diversify genome-wide association studies (GWASs), the majority of kidney function loci are still limited to individuals of European ancestry due to sample selection bias. This study aimed to identify susceptibility loci associated with estimated glomerular filtration rate (eGFRcrea) in individuals of African ancestry. The study identified several lead SNPs, including one novel variant in the ELN gene. The findings suggest the need for larger studies in individuals of African ancestry to gain insights into the pathogenesis of Chronic Kidney Disease (CKD) and identify unique genomic variations associated with this ancestry that may influence renal function and disease.
Article
Biochemistry & Molecular Biology
Deirdre K. Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken, Jamie L. Benham, Dhanasekaran Bodhini, Amy L. Clark, Kevin Colclough, Rosa Corcoy, Sara J. Cromer, Daisy Duan, Jamie L. Felton, Ellen C. Francis, Pieter Gillard, Veronique Gingras, Romy Gaillard, Eram Haider, Alice Hughes, Jennifer M. Ikle, Laura M. Jacobsen, Anna R. Kahkoska, Jarno L. T. Kettunen, Raymond J. Kreienkamp, Lee-Ling Lim, Jonna M. E. Mannisto, Robert Massey, Niamh-Maire Mclennan, Rachel G. Miller, Mario Luca Morieri, Jasper Most, Rochelle N. Naylor, Bige Ozkan, Kashyap Amratlal Patel, Scott J. Pilla, Katsiaryna Prystupa, Sridharan Raghavan, Mary R. Rooney, Martin Schoen, Zhila Semnani-Azad, Magdalena Sevilla-Gonzalez, Pernille Svalastoga, Wubet Worku Takele, Claudia Ha-ting Tam, Anne Cathrine B. Thuesen, Mustafa Tosur, Amelia S. Wallace, Caroline C. Wang, Jessie J. Wong, Jennifer M. Yamamoto, Katherine Young, Chloe Amouyal, Mette K. Andersen, Maxine P. Bonham, Mingling Chen, Feifei Cheng, Tinashe Chikowore, Sian C. Chivers, Christoffer Clemmensen, Dana Dabelea, Adem Y. Dawed, Aaron J. Deutsch, Laura T. Dickens, Linda A. DiMeglio, Monika Dudenhoffer-Pfeifer, Carmella Evans-Molina, Maria Merce Fernandez-Balsells, Hugo Fitipaldi, Stephanie L. Fitzpatrick, Stephen E. Gitelman, Mark O. Goodarzi, Jessica A. Grieger, Marta Guasch-Ferre, Nahal Habibi, Torben Hansen, Chuiguo Huang, Arianna Harris-Kawano, Heba M. Ismail, Benjamin Hoag, Randi K. Johnson, Angus G. Jones, Robert W. Koivula, Aaron Leong, Gloria K. W. Leung, Ingrid M. Libman, Kai Liu, S. Alice Long, William L. Lowe, Robert W. Morton, Ayesha A. Motala, Suna Onengut-Gumuscu, James S. Pankow, Maleesa Pathirana, Sofia Pazmino, Dianna Perez, John R. Petrie, Camille E. Powe, Alejandra Quinteros, Rashmi Jain, Debashree Ray, Mathias Ried-Larsen, Zeb Saeed, Vanessa Santhakumar, Sarah Kanbour, Sudipa Sarkar, Gabriela S. F. Monaco, Denise M. Scholtens, Elizabeth Selvin, Wayne Huey-Herng Sheu, Cate Speake, Maggie A. Stanislawski, Nele Steenackers, Andrea K. Steck, Norbert Stefan, Julie Stoy, Rachael Taylor, Sok Cin Tye, Gebresilasea Gendisha Ukke, Marzhan Urazbayeva, Bart Van der Schueren, Camille Vatier, John M. Wentworth, Wesley Hannah, Sara L. White, Gechang Yu, Yingchai Zhang, Shao J. Zhou, Jacques Beltrand, Michel Polak, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Kristin A. Maloney, Andrew McGovern, Janne Molnes, Mariam Nakabuye, Pal Rasmus Njolstad, Hugo Pomares-Millan, Michele Provenzano, Cecile Saint-Martin, Cuilin Zhang, Yeyi Zhu, Sungyoung Auh, Russell de Souza, Andrea J. Fawcett, Chandra Gruber, Eskedar Getie Mekonnen, Emily Mixter, Diana Sherifali, Robert H. Eckel, John J. Nolan, Louis H. Philipson, Rebecca J. Brown, Liana K. Billings, Kristen Boyle, Tina Costacou, John M. Dennis, Jose C. Florez, Anna L. Gloyn, Maria F. Gomez, Peter A. Gottlieb, Siri Atma W. Greeley, Kurt Griffin, Andrew T. Hattersley, Irl B. Hirsch, Marie-France Hivert, Korey K. Hood, Jami L. Josefson, Soo Heon Kwak, Lori M. Laffel, Siew S. Lim, Ruth J. F. Loos, Ronald C. W. Ma, Chantal Mathieu, Nestoras Mathioudakis, James B. Meigs, Shivani Misra, Viswanathan Mohan, Rinki Murphy, Richard Oram, Katharine R. Owen, Susan E. Ozanne, Ewan R. Pearson, Wei Perng, Toni I. Pollin, Rodica Pop-Busui, Richard E. Pratley, Leanne M. Redman, Maria J. Redondo, Rebecca M. Reynolds, Robert K. Semple, Jennifer L. Sherr, Emily K. Sims, Arianne Sweeting, Tiinamaija Tuomi, Miriam S. Udler, Kimberly K. Vesco, Tina Vilsboll, Robert Wagner, Stephen S. Rich, Paul W. Franks
Summary: Precision medicine, as part of contemporary evidence-based medicine, aims to reduce errors and optimize outcomes in medical decisions and health recommendations. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review and highlights opportunities for clinical implementation as well as gaps in knowledge.
Article
Multidisciplinary Sciences
Abram Bunya Kamiza, Sounkou M. Toure, Feng Zhou, Opeyemi Soremekun, Cheickna Cisse, Mamadou Wele, Aboubacrine M. Toure, Oyekanmi Nashiru, Manuel Corpas, Moffat Nyirenda, Amelia Crampin, Jeffrey Shaffer, Seydou Doumbia, Eleftheria Zeggini, Andrew P. Morris, Jennifer L. Asimit, Tinashe Chikowore, Segun Fatumo
Summary: In this study, we used GWAS, MTAG, and flashfm to identify four and 14 novel loci associated with lipid traits in 125,000 individuals of African ancestry. Flashfm reduced the 99% credible set size by 18% compared to single-trait fine-mapping with JAM, and identified more genetic variants with a posterior probability of causality >0.9. In conclusion, we identified additional novel loci associated with lipid traits and flashfm improved the identification of causal genetic variants associated with multiple lipid traits in African ancestry.
NATURE COMMUNICATIONS
(2023)
Article
Nutrition & Dietetics
Alice Giontella, Roxane de la Harpe, Helene T. Cronje, Loukas Zagkos, Benjamin Woolf, Susanna C. Larsson, Dipender Gill
Summary: Genetically predicted plasma caffeine levels are associated with a decrease in kidney function, while genetically predicted caffeine intake is associated with an improvement in kidney function.
Article
Psychiatry
Opeyemi Soremekun, Clarisse Musanabaganwa, Annette Uwineza, Maddalena Ardissino, Skanda Rajasundaram, Agaz H. Wani, Stefan Jansen, Jean Mutabaruka, Eugene Rutembesa, Chisom Soremekun, Cisse Cheickna, Mamadou Wele, Joseph Mugisha, Oyekanmi Nash, Eugene Kinyanda, Dorothea Nitsch, Myriam Fornage, Tinashe Chikowore, Dipender Gill, Derek E. Wildman, Leon Mutesa, Monica Uddin, Segun Fatumo
Summary: Observational studies have shown a link between PTSD and IS, but it is unclear if this association is causal. Using Mendelian randomization, the researchers found evidence that genetic liability to specific sub-phenotypes of PTSD, such as hyperarousal and avoidance, may have a causal effect on the risk of IS in individuals of European and African ancestry.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Medicine, General & Internal
Richard Mayanja, Tafadzwa Machipisa, Opeyemi Soremeku, Abram B. Kamiza, Christopher Kintu, Allan Kalungi, Robert Kalyesubula, Obondo J. Sande, Daudi Jjingo, June Fabian, Cassianne Robinson-Cohen, Nora Franceschini, Dorothea Nitsch, Moffat Nyirenda, Eleftheria Zeggini, Andrew P. Morris, Tinashe Chikowore, Segun Fatumo
Summary: Chronic kidney disease is on the rise in Africa, but the genetic factors behind it are not well understood. While creatinine-based estimated glomerular filtration rate (eGFR) is commonly used to estimate kidney function, it has been shown to be inadequate in detecting low kidney function in Sub-Saharan Africa. On the other hand, eGFR based on cystatin-C (eGFRcys) has shown significantly better performance. Therefore, this study aimed to conduct a GWAS for eGFRcys.