Article
Endocrinology & Metabolism
Mark J. O'Connor, Philip Schroeder, Alicia Huerta-Chagoya, Paula Cortes-Sanchez, Silvia Bonas-Guarch, Marta Guindo-Martinez, Joanne B. Cole, Varinderpal Kaur, David Torrents, Kumar Veerapen, Niels Grarup, Mitja Kurki, Carsten F. Rundsten, Oluf Pedersen, Ivan Brandslund, Allan Linneberg, Torben Hansen, Aaron Leong, Jose C. Florez, Josep M. Mercader
Summary: GWAS using a recessive model identifies new loci associated with type 2 diabetes, including variants with larger effects.
Article
Endocrinology & Metabolism
Jamie R. J. Inshaw, Carlo Sidore, Francesco Cucca, M. Irina Stefana, Daniel J. M. Crouch, Mark I. McCarthy, Anubha Mahajan, John A. Todd
Summary: This study identified genetic regions associated with both type 1 and type 2 diabetes, with four association signals co-localising between the two diseases in opposite directions, suggesting a complex genetic relationship between them.
Article
Biochemistry & Molecular Biology
Natalia Pervjakova, Gunn-Helen Moen, Maria-Carolina Borges, Teresa Ferreira, James P. Cook, Catherine Allard, Robin N. Beaumont, Mickael Canouil, Gad Hatem, Anni Heiskala, Anni Joensuu, Ville Karhunen, Soo Heon Kwak, Frederick T. J. Lin, Jun Liu, Sheryl Rifas-Shiman, Claudia H. Tam, Wing Hung Tam, Gudmar Thorleifsson, Toby Andrew, Juha Auvinen, Bishwajit Bhowmik, Amelie Bonnefond, Fabien Delahaye, Ayse Demirkan, Philippe Froguel, Kadri Haller-Kikkatalo, Hildur Hardardottir, Sandra Hummel, Akhtar Hussain, Eero Kajantie, Elina Keikkala, Amna Khamis, Jari Lahti, Tove Lekva, Sanna Mustaniemi, Christine Sommer, Aili Tagoma, Evangelia Tzala, Raivo Uibo, Marja Vaarasmaki, Pia M. Villa, Kare Birkeland, Luigi Bouchard, Cornelia M. Duijn, Sarah Finer, Leif Groop, Esa Hamalainen, Geoffrey M. Hayes, Graham A. Hitman, Hak C. Jang, Marjo-Riitta Jarvelin, Anne Karen Jenum, Hannele Laivuori, Ronald C. Ma, Olle Melander, Emily Oken, Kyong Soo Park, Patrice Perron, Rashmi B. Prasad, Elisabeth Qvigstad, Sylvain Sebert, Kari Stefansson, Valgerdur Steinthorsdottir, Tiinamaija Tuomi, Marie-France Hivert, Paul W. Franks, Mark McCarthy, Cecilia M. Lindgren, Rachel M. Freathy, Deborah A. Lawlor, Andrew P. Morris, Reedik Magi
Summary: The study found that gestational diabetes mellitus (GDM) and type 2 diabetes (T2D) share the same underlying pathology, but there are also genetic determinants specific to glucose regulation in pregnancy.
HUMAN MOLECULAR GENETICS
(2022)
Article
Cell Biology
Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P. Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R. Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C. McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Philip Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania Nayak Kamphaus, Melissa R. Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Goncalo R. Abecasis, David Altshuler, Thomas M. Keane, Mark I. McCarthy, Kyle J. Gaulton, Jose C. Florez, Michael Boehnke, Noel P. Burtt, Jason Flannick
Summary: This study aims to make the Type 2 Diabetes Knowledge Portal (T2DKP) more accessible and useful to both new and existing users. It evaluates the comprehensiveness of T2DKP by comparing its datasets with other repositories, guides researchers unfamiliar with human genetic data on how to interpret and use the data through T2DKP, and discusses the importance of democratizing access to complex disease genetic results.
Article
Endocrinology & Metabolism
Agne Kulyte, Alisha Aman, Rona J. Strawbridge, Peter Arner, Ingrid A. Dahlman
Summary: Interindividual differences in the generation of new fat cells are associated with body fat and type 2 diabetes risk. This study identified several genetic loci and candidate genes, including SPATS2L, KCTD18, RPL8, HSD17B12, and PEPD, that are potentially important in controlling fat cell numbers, body fat size, and diabetes risk.
Article
Biochemistry & Molecular Biology
Colette E. Christiansen, Ryan Arathimos, Oliver Pain, Mariam Molokhia, Jordana T. Bell, Cathryn M. Lewis
Summary: This study explores the genetic and environmental factors of type 2 diabetes by analyzing subgroups based on age-at-onset and BMI. It identifies 18 genetic variants associated with type 2 diabetes and shows genetic heterogeneity between subgroups. Combined risk scores based on genetic profile, BMI, and age effectively predict diabetes.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Ninna Karsbaek Senftleber, Mette K. Andersen, Emil Jorsboe, Frederik Filip Staeger, Anne Krogh Nohr, Genis Garcia-Erill, Jonas Meisner, Cindy G. Santander, Renzo F. Balboa, Arthur Gilly, Peter Bjerregaard, Christina Viskum Lytken Larsen, Niels Grarup, Marit Eika Jorgensen, Eleftheria Zeggini, Ida Moltke, Torben Hansen, Anders Albrechtsen
Summary: This study identified genetic variants associated with lipid traits in Greenlanders, including a potential causal variant near PCSK9 that was also associated with a lower risk of CVD outcomes. These findings suggest a different genetic architecture of lipid levels in Greenlanders compared to Europeans.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Allergy
Janet K. Jackman, Amy Stockwell, David F. Choy, Markus M. Xie, Peipei Lu, Guiquan Jia, Hong Li, Alexander R. Abbas, Paola G. Bronson, Wei-Yu Lin, Cecilia P. C. Chiu, Henry R. Maun, Merone Roose-Girma, Lucinda Tam, Juan Zhang, Zora Modrusan, Robert R. Graham, Timothy W. Behrens, Steven R. White, Ted Naureckas, Carole Ober, Manuel Ferreira, Radislav Sedlacek, Jiansheng Wu, Wyne P. Lee, Robert A. Lazarus, James T. Koerber, Joseph R. Arron, Brian L. Yaspan, Tangsheng Yi
Summary: This study identified a novel gene, KLK5, associated with T2-low asthma, and discovered its role in disease development through unbiased genome-wide association analysis and biological analysis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Linjing Zhang, Lu Tang, Tao Huang, Dongsheng Fan
Summary: The study found that there is a consistent association between type 2 diabetes and amyotrophic lateral sclerosis (ALS). The genetically predicted type 2 diabetes was associated with a significantly lower risk of ALS.
SCIENTIFIC REPORTS
(2022)
Article
Endocrinology & Metabolism
Afnan Mansour, Mira Mousa, Dima Abdelmannan, Guan Tay, Ahmed Hassoun, Habiba Alsafar
Summary: This study conducted an Exome-Wide Association Study (EWAS) on Emirati individuals with type 2 diabetes mellitus (T2DM) to identify susceptibility loci associated with T2DM-related complications. The results showed associations between various genes and each complication category. The study also highlighted the limitations of the current genotyping arrays in representing diverse populations, emphasizing the need for better representation in future studies.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Resham Lal Gurung, Rajkumar Dorajoo, M. Yiamunaa, Jian-Jun Liu, Sharon Li Ting Pek, Jiexun Wang, Ling Wang, Xueling Sim, Sylvia Liu, Yi-Ming Shao, Keven Ang, Tavintharan Subramaniam, Wern Ee Tang, Chee Fang Sum, Jian-Jun Liu, Su Chi Lim
Summary: The study identified a genetic variant associated with increased risk of RDKF in T2D patients by analyzing plasma LRG1 levels, and provided evidence for a potential causal effect of plasma LRG1 on kidney function decline through Mendelian randomization analysis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Daniel E. Coral, Juan Fernandez-Tajes, Neli Tsereteli, Hugo Pomares-Millan, Hugo Fitipaldi, Pascal M. Mutie, Naeimeh Atabaki-Pasdar, Sebastian Kalamajski, Alaitz Poveda, Tyne W. Miller-Fleming, Xue Zhong, Giuseppe N. Giordano, Ewan R. Pearson, Nancy J. Cox, Paul W. Franks
Summary: Coral et al. identify genetically determined discordance between obesity and type 2 diabetes, discovering genes that may provide protection against type 2 diabetes in obesity. The study shows two obesity profiles with highly concordant and discordant diabetogenic effects, and highlights key differences in various traits related to cardiovascular health, metabolism, and gut bacteria composition.
Article
Genetics & Heredity
Kanchan Pipal, Manju Mamtani, Ashwini A. Patel, Sujeet G. Jaiswal, Manisha T. Jaisinghani, Hemant Kulkarni
Summary: This study identified novel candidate genes associated with type 2 diabetes in the Indian Sindhi population, highlighting the need for further investigation.
Article
Nutrition & Dietetics
Yu-Jin Kwon, Hye-Min Park, Jun-Hyuk Lee
Summary: Mitigating the risk of type 2 diabetes mellitus can be achieved through maintaining a healthy weight, adopting a healthy diet, and engaging in regular physical activity. This study aimed to evaluate the association between an individual's oxidative balance status and the incidence of type 2 diabetes mellitus. Data from a large-scale cohort study were analyzed, and the results showed that individuals with a high oxidative balance score had a lower risk of developing type 2 diabetes mellitus. This suggests that lifestyle modifications with antioxidant properties could be a preventive strategy for type 2 diabetes mellitus.
Article
Endocrinology & Metabolism
Jiahao Zhu, Huanling Zhao, Dingwan Chen, Lap Ah Tse, Sanjay Kinra, Yingjun Li
Summary: This study found significant genetic correlations between T2D, glycemic traits, and pulmonary function, with Mendelian randomization analyses suggesting a bidirectional causal association between T2D and pulmonary function.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Mette K. Andersen, Lars Angquist, Jette Bork-Jensen, Anna E. Jonsson, Sara E. Stinson, Camilla H. Sandholt, Malte Thodberg, Laura Maarit Pikkupeura, Emily L. Ongstad, Niels Grarup, Arne Astrup, Oluf Pedersen, Kristine Williams, Romain Barres, Thorkild I. A. Sorensen, Allan Linneberg, Joseph Grimsby, Christopher J. Rhodes, Torben Hansen
Summary: The association between FTO rs9939609 and obesity is modified by physical activity and insulin sensitivity, and these modifications are independent. High physical activity and insulin sensitivity can attenuate the effect of the FTO rs9939609 A allele on BMI. Moreover, greater physical activity and insulin sensitivity may weaken the associations between the FTO rs9939609 A allele and all-cause mortality and certain cardiometabolic outcomes. The FTO rs9939609 A allele is associated with higher expression of FTO in skeletal muscle.
Article
Nutrition & Dietetics
Line O. Elingaard-Larsen, Sofie O. Villumsen, Louise Justesen, Anne Cathrine B. Thuesen, Min Kim, Mina Ali, Else R. Danielsen, Cristina Legido-Quigley, Gerrit van Hall, Torben Hansen, Tarunveer S. Ahluwalia, Allan A. Vaag, Charlotte Brons
Summary: The influence of increased liver fat content on differences in circulating metabolites and lipids between low-birth-weight (LBW) individuals and normal-birth-weight (NBW) controls remains unknown. In this study, untargeted serum metabolomics and lipidomics analyses were performed on 26 healthy LBW men, including individuals with non-alcoholic fatty liver disease (NAFLD), compared to age- and BMI-matched NBW controls. The results showed significant differences in metabolites and lipids between LBW men and NBW controls, with more pronounced differences observed in LBW men with NAFLD. The findings emphasize the importance of increased liver fat in the development of type 2 diabetes in LBW individuals.
Article
Cardiac & Cardiovascular Systems
Sucharitha Chadalavada, Jaakko Reinikainen, Jonas Andersson, Augusto Di Castelnuovo, Licia Iacoviello, Pekka Jousilahti, Line Lund Karhus, Allan Linneberg, Stefan Soderberg, Hugh Tunstall-Pedoe, Karim Lekadir, Nay Aung, Magnus T. T. Jensen, Kari Kuulasmaa, Teemu J. J. Niiranen, Steffen E. E. Petersen
Summary: This study confirms that women with type 1 diabetes have a higher risk of heart failure compared to men, but there is no significant difference in risk according to sex for type 2 diabetes patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Review
Genetics & Heredity
Ninna Karsbaek Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jorgensen, Anders Albrechtsen, Torben Hansen, Mette K. Andersen
Summary: Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components, leading to congenital sucrase-isomaltase deficiency (CSID). The c.273_274delAG loss-of-function (LoF) variant is common in Arctic populations and may have a positive impact on metabolic health. Understanding the biological role of SI, the metabolic impact of the Arctic SI LoF variant, and the potential mechanisms linking reduced SI function to metabolic health is crucial for evaluating SI inhibition as a therapeutic target for improving cardiometabolic health.
APPLICATION OF CLINICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Ninna Karsbaek Senftleber, Mette K. Andersen, Emil Jorsboe, Frederik Filip Staeger, Anne Krogh Nohr, Genis Garcia-Erill, Jonas Meisner, Cindy G. Santander, Renzo F. Balboa, Arthur Gilly, Peter Bjerregaard, Christina Viskum Lytken Larsen, Niels Grarup, Marit Eika Jorgensen, Eleftheria Zeggini, Ida Moltke, Torben Hansen, Anders Albrechtsen
Summary: This study identified genetic variants associated with lipid traits in Greenlanders, including a potential causal variant near PCSK9 that was also associated with a lower risk of CVD outcomes. These findings suggest a different genetic architecture of lipid levels in Greenlanders compared to Europeans.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Ashley Budu-Aggrey, Anna Kilanowski, Maria K. Sobczyk, Suyash S. Shringarpure, Ruth Mitchell, Kadri Reis, Anu Reigo, Reedik Maegi, Mari Nelis, Nao Tanaka, Ben M. Brumpton, Laurent F. Thomas, Pol Sole-Navais, Christopher Flatley, Antonio Espuela-Ortiz, Esther Herrera-Luis, Jesus V. T. Lominchar, Jette Bork-Jensen, Ingo Marenholz, Aleix Arnau-Soler, Ayoung Jeong, Katherine A. Fawcett, Hansjorg Baurecht, Elke Rodriguez, Alexessander Couto Alves, Ashish Kumar, Patrick M. Sleiman, Xiao Chang, Carolina Medina-Gomez, Chen Hu, Cheng-jian Xu, Cancan Qi, Sarah El-Heis, Philip Titcombe, Elie Antoun, Joao Fadista, Carol A. Wang, Elisabeth Thiering, Baojun Wu, Sara Kress, Dilini M. Kothalawala, Latha Kadalayil, Jiasong Duan, Hongmei Zhang, Sabelo Hadebe, Thomas Hoffmann, Eric Jorgenson, Helene Choquet, Neil Risch, Pal Njolstad, Ole A. Andreassen, Stefan Johansson, Catarina Almqvist, Tong Gong, Vilhelmina Ullemar, Robert Karlsson, Patrik K. E. Magnusson, Agnieszka Szwajda, Esteban G. Burchard, Jacob P. Thyssen, Torben Hansen, Line L. Karhus, Thomas M. Dantoft, Alexander C. S. N. Jeanrenaud, Ahla Ghauri, Andreas Arnold, Georg Homuth, Susanne Lau, Markus M. Noethen, Norbert Huebner, Medea Imboden, Alessia Visconti, Mario Falchi, Veronique Bataille, Pirro Hysi, Natalia Ballardini, Dorret I. Boomsma, Jouke J. Hottenga, Martina Mueller-Nurasyid, Tarunveer S. Ahluwalia, Jakob Stokholm, Bo Chawes, Ann-Marie M. Schoos, Ana Esplugues, Mariona Bustamante, Benjamin Raby, Syed Arshad, Chris German, Tonu Esko, Lili A. Milani, Andres Metspalu, Chikashi Terao, Katrina Abuabara, Mari Loset, Kristian Hveem, Bo Jacobsson, Maria Pino-Yanes, David P. Strachan, Niels Grarup, Allan Linneberg, Young-Ae Lee, Nicole Probst-Hensch, Stephan Weidinger, Marjo-Riitta Jarvelin, Erik Melen, Hakon Hakonarson, Alan D. Irvine, Deborah Jarvis, Tamar Nijsten, Liesbeth Duijts, Judith M. Vonk, Gerard H. Koppelmann, Keith M. Godfrey, Sheila J. Barton, Bjarke Feenstra, Craig E. Pennell, Peter D. Sly, Patrick G. Holt, L. Keoki Williams, Hans Bisgaard, Klaus Bonnelykke, John Curtin, Angela Simpson, Clare Murray, Tamara Schikowski, Supinda Bunyavanich, Scott T. Weiss, John W. Holloway, Josine L. Min, Sara J. Brown, Marie Standl, Lavinia Paternoster
Summary: This study conducted the largest genome-wide association study (GWAS) on atopic dermatitis (AD) to date, identifying 81 replicated AD-associated loci in Europeans and 10 additional loci in a multi-ancestry analysis. The implicated genes are predominantly involved in immune pathways relevant to atopic inflammation and may offer drug repurposing opportunities.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Yordi van de Vegte, Ruben P. Eppinga, M. Yldau van der Ende, Yanick Hagemeijer, Yuvaraj V. Mahendran, Elias Y. Salfati, Albert E. Smith, Vanessa Tan, Dan V. Arking, Ioanna Ntalla, Emil A. Appel, Claudia Schurmann, Jennifer Brody, Rico Rueedi, Ozren Polasek, Gardar Sveinbjornsson, Cecile Lecoeur, Claes Ladenvall, Jing Hua Zhao, Aaron Isaacs, Lihua Wang, Jian'an Luan, Shih-Jen Hwang, Nina U. Mononen, Kirsi F. Auro, Anne Jackson, Lawrence Bielak, Linyao Zeng, Nabi Shah, Maria Nethander, Archie Campbell, Tuomo Rankinen, Sonali Pechlivanis, Lu Qi, Wei Zhao, Federica Rizzi, Toshiko Tanaka, Antonietta Robino, Massimiliano Cocca, Leslie Lange, Martina Mueller-Nurasyid, Carolina E. Roselli, Weihua Zhang, Marcus J. Kleber, Xiuqing Guo, Henry E. Lin, Francesca Pavani, Tessel Galesloot, Raymond E. Noordam, Yuri Milaneschi, Katharina Schraut, Marcel den Hoed, Frauke E. Degenhardt, Stella Trompet, Marten van den Berg, Giorgio Pistis, Yih-Chung S. Tham, Stefan L. Weiss, Xueling J. Sim, Hengtong M. Li, Peter van der Most, Ilja Nolte, Leo-Pekka R. Lyytikaeinen, M. Abdullah Said, Daniel Witte, Carlos M. Iribarren, Lenore S. Launer, Susan Ring, Paul de Vries, Peter P. Sever, Allan Linneberg, Erwin M. Bottinger, Sandosh Padmanabhan, Bruce Psaty, Nona Sotoodehnia, Ivana Kolcic, Delnaz D. Roshandel, Andrew O. Paterson, David F. Arnar, Daniel Gudbjartsson, Hilma Holm, Beverley T. Balkau, Claudia H. Silva, Christopher Newton-Cheh, Kjell Nikus, Perttu L. Salo, Karen A. Mohlke, Patricia Peyser, Heribert Schunkert, Mattias Lorentzon, Jari C. Lahti, Dabeeru C. Rao, Marilyn D. Cornelis, Jessica A. Faul, Jennifer Smith, Katarzyna Stolarz-Skrzypek, Stefania Bandinelli, Maria Pina Concas, Gianfranco Sinagra, Thomas Meitinger, Melanie F. Waldenberger, Moritz Sinner, Konstantin E. Strauch, Graciela D. Delgado, Kent Taylor, Jie Yao, Luisa Foco, Olle Melander, Jacqueline de Graaf, Renee de Mutsert, Eco J. C. de Geus, Asa K. Johansson, Peter K. Joshi, Lars Lind, Andre W. Franke, Peter V. Macfarlane, Kirill Tarasov, Nicholas B. Tan, Stephan Felix, E-Shyong Q. Tai, Debra Quek, Harold Snieder, Johan Ormel, Martin Ingelsson, Cecilia P. Lindgren, Andrew T. Morris, Olli Raitakari, Torben Hansen, Themistocles Assimes, Vilmundur J. Gudnason, Nicholas C. Timpson, Alanna B. Morrison, Patricia P. Munroe, David Strachan, Niels Grarup, Ruth J. F. R. Loos, Susan Heckbert, Peter Vollenweider, Caroline Hayward, Kari Stefansson, Philippe Froguel, Leif J. Groop, Nicholas M. Wareham, Cornelia F. van Duijn, Mary J. Feitosa, Christopher O'Donnell, Mika Kaehoenen, Markus Perola, Michael Boehnke, Sharon L. R. Kardia, Jeanette Erdmann, Colin N. A. Palmer, Claes J. Ohlsson, David G. Porteous, Johan Eriksson, Claude Bouchard, Susanne Moebus, Peter R. Kraft, David Weir, Daniele Cusi, Luigi Ferrucci, Sheila Ulivi, Giorgia Girotto, Adolfo Correa, Stefan Kaeaeb, Annette C. Peters, John S. Chambers, Jaspal Kooner, Winfried I. Maerz, Jerome A. Rotter, Andrew Hicks, J. Gustav Smith, Lambertus A. L. M. O. Kiemeney, Dennis Mook-Kanamori, Brenda W. J. H. Penninx, Ulf F. Gyllensten, James Wilson, Stephen Burgess, Johan Sundstroem, Wolfgang Lieb, J. Wouter Jukema, Mark Eijgelsheim, Edward L. M. Lakatta, Ching-Yu Cheng, Marcus Doerr, Tien-Yin Wong, Charumathi J. Sabanayagam, Albertine Oldehinkel, Harriette Riese, Terho Lehtimaeki, Niek Verweij, Pim van der Harst
Summary: This study identifies new genetic variants associated with resting heart rate (RHR) and demonstrates that higher genetically predicted RHR is associated with a decreased risk of atrial fibrillation and ischemic stroke. Genome-wide analysis reveals multiple genetic variants in cardiomyocyte-related genes and provides insights into their electrocardiogram (ECG) signature. Mendelian randomization analyses indicate that higher genetically predicted RHR increases the risk of dilated cardiomyopathy, but reduces the risk of atrial fibrillation, ischemic stroke, and cardio-embolic stroke.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Asmat Ullah, Evelina Stankevic, Louise Aas Holm, Sara E. Stinson, Helene Baek Juel, Cilius E. Fonvig, Morten A. V. Lund, Caecilie Trier, Line Engelbrechtsen, Lars Angquist, Anna E. Jonsson, Oluf Pedersen, Niels Grarup, Jens-Christian Holm, Torben Hansen
Summary: Bilirubin is inversely associated with cardiovascular disease, type 2 diabetes, and all-cause mortality in adults. This study found that bilirubin is also negatively associated with cardiometabolic risk factors and inflammation in children and adolescents. Genome-wide association studies identified genetic loci associated with plasma bilirubin concentrations.
Article
Neurosciences
Florence Thirion, Helene Speyer, Tue Haldor Hansen, Trine Nielsen, Yong Fan, Emmanuelle Le Chatelier, Sebastien Fromentin, Magali Berland, Florian Plaza Onate, Nicolas Pons, Nathalie Galleron, Florence Levenez, Lajos Marko, Till Birkner, Torben Jorgensen, Sofia K. Forslund, Henrik Vestergaard, Torben Hansen, Merete Nordentoft, Ole Mors, Michael E. Benros, Oluf Pedersen, Stanislav D. Ehrlich
Summary: This study found significant differences in the gut microbiota between patients with schizophrenia, healthy individuals, and individuals with metabolic syndrome. The functional potential of the gut microbiota was associated with cognitive function in patients with schizophrenia, suggesting the gut microbiota could be a target for intervention to alleviate cognitive dysfunction.
BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE
(2023)
Article
Biotechnology & Applied Microbiology
Sarah Gersing, Matteo Cagiada, Marinella Gebbia, Anette P. Gjesing, Atina G. Cote, Gireesh Seesankar, Roujia Li, Daniel Tabet, Jochen Weile, Amelie Stein, Anna L. Gloyn, Torben Hansen, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Summary: This study developed a multiplexed yeast complementation assay to measure the activity of GCK variants, capturing 97% of all possible missense and nonsense variants. The results showed that the activity scores correlated with in vitro catalytic efficiency, fasting glucose levels in carriers of GCK variants, and evolutionary conservation. This comprehensive assessment of GCK variant activity is important for variant interpretation and diagnosis, as well as for developing therapeutics targeting GCK.
Article
Health Care Sciences & Services
Anne Cathrine Baun Thuesen, Frederik Filip Staeger, Alba Kaci, Marie Holm Solheim, Ingvild Aukrust, Emil Jorsboe, Cindy G. Santander, Mette K. Andersen, Zilong Li, Arthur Gilly, Sara Elizabeth Stinson, Anette Prior Gjesing, Peter Bjerregaard, Michael Lynge Pedersen, Christina Viskum Lytken Larsen, Niels Grarup, Marit E. Jorgensen, Eleftheria Zeggini, Lise Bjorkhaug, Pal Rasmus Njolstad, Anders Albrechtsen, Ida Moltke, Torben Hansen
Summary: This study aimed to identify and characterize novel variants in genes associated with MODY in the Greenlandic population. Through screening data from Greenlandic population cohorts, researchers identified a novel variant in the known MODY gene HNF1A that is specific to the Greenlandic Inuit population. The variant was found to be associated with diabetes and glucose levels, and had a significant impact on diabetes prevalence in Greenland.
LANCET REGIONAL HEALTH-EUROPE
(2023)
Article
Psychiatry
Ida Pauline Hoilo Granheim, Siv Kvernmo, Anne Silviken, Christina Viskum Lytken Larsen
Summary: This study investigated the relationships between suicidal thoughts and attempts and negative life events, such as violence, sexual abuse, and parental substance abuse, among Sami and Greenlandic Inuit adolescents. The results showed significant associations between suicidal behavior and violence/sexual abuse across Indigenous groups. The strongest association was found between suicidal thoughts and sexual abuse among Sami females, while Sami and Inuit adolescents with a history of childhood violence reported more suicide attempts, particularly among Sami males.
SCANDINAVIAN JOURNAL OF CHILD AND ADOLESCENT PSYCHIATRY AND PSYCHOLOGY
(2023)