Article
Engineering, Electrical & Electronic
Yi-Chung Wu, Yen-Lung Chen, Chung-Hsuan Yang, Chao-Hsi Lee, Chao-Yang Yu, Nian-Shyang Chang, Ling-Chien Chen, Jia-Rong Chang, Chun-Pin Lin, Hung-Lieh Chen, Chi-Shi Chen, Jui-Hung Hung, Chia-Hsiang Yang
Summary: This research presents a dedicated system-on-chip (SoC) that achieves high parallelism and low hardware complexity, completing variant discovery for the whole human genome in 37 minutes. It is 66 times faster than an optimized graphic processing unit solution, with significantly higher energy and area efficiency.
IEEE JOURNAL OF SOLID-STATE CIRCUITS
(2021)
Article
Chemistry, Medicinal
Alicia Regueiro-Ren, Sing-Yuen Sit, Yan Chen, Jie Chen, Jacob J. Swidorski, Zheng Liu, Brian L. Venables, Ny Sin, Richard A. Hartz, Tricia Protack, Zeyu Lin, Sharon Zhang, Zhufang Li, Dauh-Rurng Wu, Peng Li, James Kempson, Xiaoping Hou, Anuradha Gupta, Richard Rampulla, Arvind Mathur, Hyunsoo Park, Amy Sarjeant, Yulia Benitex, Sandhya Rahematpura, Dawn Parker, Thomas Phillips, Roy Haskell, Susan Jenkins, Kenneth S. Santone, Mark Cockett, Umesh Hanumegowda, Ira Dicker, Nicholas A. Meanwell, Mark Krystal
Summary: GSK3640254 is an HIV-1 maturation inhibitor with significantly improved antiviral activity against clinically relevant polymorphic variants and reduced sensitivity towards the second-generation inhibitor GSK3532795. The replacement of the para-substituted benzoic acid moiety with a cyclohex-3-ene-1-carboxylic acid substituted with a CH2F moiety led to improved polymorphic coverage and preserved pharmacokinetic properties. GSK3640254 is currently undergoing phase IIb clinical trials and has shown dose-related reduction in HIV-1 viral load.
JOURNAL OF MEDICINAL CHEMISTRY
(2022)
Article
Biochemical Research Methods
Brendan O'Fallon, Jacob Durtschi, Ana Kellogg, Tracey Lewis, Devin Close, Hunter Best
Summary: This study proposes two algorithmic adaptations to improve the accuracy of CNV detection in a Hidden Markov Model (HMM) context. First, it improves the accuracy by computing target- and copy number-specific emission distributions. Second, it enhances the sensitivity for small CNV calls using the Pointwise Maximum a posteriori (PMAP) HMM decoding procedure. The prototype implementation, called Cobalt, shows similar sensitivity to other CNV detection tools but significantly reduces false positive detections.
BMC BIOINFORMATICS
(2022)
Article
Genetics & Heredity
Nikita Simone Pillay, Owen A. Ross, Alan Christoffels, Soraya Bardien
Summary: The use of next-generation sequencing technologies has aided in the discovery of novel gene loci in familial Parkinson's disease (PD), but the missing heritability of PD has not been resolved significantly. Third-generation sequencing technologies are needed to identify complex genomic rearrangements and new sequence variations. Additionally, studying ancestrally diverse populations and optimizing sequencing and analytic workflows for these populations are critical for exciting new discoveries in the field.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Ali Yavuz Cakir, Kuyas Hekimler Ozturk, Alper Ozorak
Summary: The study aimed to assess the prevalence of germline mutations in prostate cancer patients using a targeted NGS-based multiple gene panel. The results showed a low incidence of pathogenic/likely pathogenic variants and identified novel variants. The findings contribute to understanding the genetic pathogenesis of prostate cancer and highlight the benefits of using multigene panel-based genetic tests for genetic counseling.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Kseniya Khamina, Andreas B. Diendorfer, Susanna Skalicky, Moritz Weigl, Marianne Pultar, Teresa L. Krammer, Catharine Aquino Fournier, Amy L. Schofield, Carolin Otto, Aaron Thomas Smith, Nina Buchtele, Christian Schoergenhofer, Bernd Jilma, Bernhard J. H. Frank, Jochen G. Hofstaetter, Regina Grillari, Johannes Grillari, Klemens Ruprecht, Christopher E. Goldring, Hubert Rehrauer, Warren E. Glaab, Matthias Hackl
Summary: The plasma levels of tissue-specific microRNAs can serve as diagnostic, disease severity and prognostic biomarkers. Combining diverse microRNAs into biomarker signatures using multivariate statistics is powerful in terms of tissue and condition specific microRNA shedding into the plasma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Dermatology
F. P. -C. Chiu, B. J. Doolan, J. A. McGrath, A. Onoufriadis
Summary: NGS technologies have accelerated the discovery of disease-gene associations in dermatology over the past decade, enabling clinicians to separate complex Mendelian phenotypes into individual diseases, thereby improving diagnostic precision and making accurate prenatal testing and targeted translational research more feasible.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Article
Multidisciplinary Sciences
Lyora A. Cohen-Aharonov, Annie Rebibo-Sabbah, Adar Yaacov, Roy Z. Granit, Merav Strauss, Raul Colodner, Ori Cheshin, Shai Rosenberg, Ronen Eavri
Summary: In this study, the researchers proposed a solution for large-scale viral screening and specific variant analysis by integrating DNA barcoding technology, sample pooling, and Next Generation Sequencing (NGS) methods. The solution allows high throughput testing with high sensitivity and specificity, and enables variant analysis at a single nucleotide resolution.
Review
Biochemical Research Methods
Surui Pei, Tao Liu, Xue Ren, Weizhong Li, Chongjian Chen, Zhi Xie
Summary: DNA variants are important sources of genetic variation among individuals. Next-generation sequencing (NGS) and third-generation sequencing (TGS) technologies are widely used for genome-wide variant calling. Different variant callers show varying performance on NGS and TGS data, with TGS detecting more variants, particularly in complex and repetitive regions. Careful selection of tools and parameters is essential for accurate variant calling under different scenarios.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Clinical Neurology
Yu-lian Fang, Na Li, Xiu-fang Zhi, Jie Zheng, Yang Liu, Lin-jie Pu, Chun-yu Gu, Jian-bo Shu, Chun-quan Cai
Summary: This study identified mutations in adjacent genes of the SMN1 gene and other genes that may be associated with the onset of SMA through analysis of SMA family samples, including novel mutations not previously reported.
NEUROLOGICAL SCIENCES
(2021)
Article
Oncology
Tyler Shugg, Reynold C. Ly, Wilberforce Osei, Elizabeth J. Rowe, Caitlin A. Granfield, Ty C. Lynnes, Elizabeth B. Medeiros, Jennelle C. Hodge, Amy M. Breman, Bryan P. Schneider, S. Cenk Sahinalp, Ibrahim Numanagic, Benjamin A. Salisbury, Steven M. Bray, Ryan Ratcliff, Todd C. Skaar
Summary: This study assessed the accuracy of the Aldy computational method in extracting pharmacogenomics genotypes from whole genome sequencing (WGS) and whole exome sequencing (WES) data. The results showed that Aldy achieved over 99% accuracy in calling diplotypes for major pharmacogenes from both WGS and WES data, supporting its importance in clinical applications.
FRONTIERS IN ONCOLOGY
(2023)
Article
Microbiology
Ilayda Akacin, Seymanur Ersoy, Osman Doluca, Mine Gungormusler
Summary: This review provides a comprehensive overview of recent literature on the utilization of TGS and NGS technologies in microbial metagenomics research. It discusses the advantages and limitations of these technologies and presents real-time examples of novel applications in clinical microbiology and public health, food and agriculture, energy and environment, arts and space.
MICROBIOLOGICAL RESEARCH
(2022)
Article
Genetics & Heredity
Guojun Liu, Junying Zhang
Summary: A new CNV detection method CBCNV is proposed in this study, which efficiently detects CNVs of different lengths using a clustering algorithm and an abnormal value prediction method, with experimental results showing its performance superior to existing methods.
FRONTIERS IN GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Gaurav D. Diwan, Juan Carlos Gonzalez-Sanchez, Gordana Apic, Robert B. Russell
Summary: The necessity to interpret genetic variants in terms of pathology or biological mechanism is urgent, with many insights into protein function impacted by genetic changes obtainable from three-dimensional structures. The development of precise methods, like Alphafold2, to predict structures from amino acid sequences may greatly benefit those seeking to understand genetic changes. This paper examines the current state of protein structures known for human and other proteomes, as well as the potential impact of Alphafold2 on variant interpretation efforts, suggesting that the available structural data for the human proteome may have a smaller impact on interpretation than anticipated. Additional efforts in structure prediction are also discussed for aiding the understanding of genetic variants.
JOURNAL OF MOLECULAR BIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N. Klaaijsen, Mahdi M. Motazacker, Aldo Grefhorst, Natal A. W. van Riel, G. Kees Hovingh, Joep C. Defesche, Linda Zuurbier
Summary: In this study, researchers investigated whether variants in intronic regions of LDLR contribute to familial hypercholesterolemia (FH) by affecting pre-mRNA splicing. They identified a deep intronic variant that was found to be causal for FH, indicating the importance of considering intronic regions in sequencing FH patients for accurate diagnosis and treatment.
Article
Endocrinology & Metabolism
Jessica Edstorp, Yuxia Wei, Emma Ahlqvist, Lars Alfredsson, Valdemar Grill, Leif Groop, Bahareh Rasouli, Elin P. Sorgjerd, Per M. Thorsby, Tiinamaija Tuomi, Bjorn O. Asvold, Sofia Carlsson
Summary: The study reveals that smoking and snus use are associated with a higher risk of LADA and type 2 diabetes, and smoking acts synergistically with HLA high-risk genotypes in the development of LADA.
Article
Cell & Tissue Engineering
Florian M. Hermann, Maya Friis Kjaergaard, Chenglei Tian, Ulf Tiemann, Abigail Jackson, Lars Ronn Olsen, Maria Kraft, Per-Ola Carlsson, Iina M. Elfving, Jarno L. T. Kettunen, Tiinamaija Tuomi, Ivana Novak, Henrik Semb
Summary: MODY3 is a monogenic form of diabetes caused by HNF1A mutations, leading to perturbed insulin secretion. Using hiPSCs, we found that MODY3 cells hypersecrete insulin both in vitro and in vivo. Our findings suggest that the hypersecretion of insulin in MODY3 cells is due to more efficient membrane depolarization.
Article
Cardiac & Cardiovascular Systems
Sara E. Stinson, Anna E. Jonsson, Mette K. Andersen, Morten A. V. Lund, Louise Aas Holm, Cilius E. Fonvig, Yun Huang, Evelina Stankevic, Helene Baek Juel, Lars aengquist, Thorkild I. A. Sorensen, Emily L. Ongstad, Ranjitha Gaddipati, Joseph Grimsby, Christopher J. Rhodes, Oluf Pedersen, Michael Christiansen, Jens-Christian Holm, Torben Hansen
Summary: This study found that sLOX-1 levels were elevated during and after puberty in children and adolescents with overweight/obesity, and were associated with inflammatory markers and worsened cardiometabolic risk profiles. sLOX-1 may serve as an early marker of cardiometabolic risk and inflammation in pediatric overweight/obesity.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
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
Endocrinology & Metabolism
Jessica Edstorp, Emma Ahlqvist, Lars Alfredsson, Dina Mansour Aly, Valdemar Grill, Bahareh Rasouli, Elin P. Sorgjerd, Tiinamaija Tuomi, Bjorn O. Asvold, Sofia Carlsson
Summary: This study found that smoking and Swedish smokeless tobacco are associated with latent autoimmune diabetes in adults and type 2 diabetes. Furthermore, genetic susceptibility to type 2 diabetes, insulin resistance, and insulin secretion worsen these associations.
Article
Genetics & Heredity
Alice Williamson, Dougall M. Norris, Xianyong Yin, K. Alaine Broadaway, Anne H. Moxley, Swarooparani Vadlamudi, Emma P. Wilson, Anne U. Jackson, Vasudha Ahuja, Mette K. Andersen, Zorayr Arzumanyan, Lori L. Bonnycastle, Stefan R. Bornstein, Maxi P. Bretschneider, Thomas A. Buchanan, Yi-Cheng Chang, Lee-Ming Chuang, Ren-Hua Chung, Tine D. Clausen, Peter Damm, Graciela E. Delgado, Vanessa D. de Mello, Josee Dupuis, Om P. Dwivedi, Michael R. Erdos, Lilian Fernandes Silva, Timothy M. Frayling, Christian Gieger, Mark O. Goodarzi, Xiuqing Guo, Stefan Gustafsson, Liisa Hakaste, Ulf Hammar, Gad Hatem, Sandra Herrmann, Kurt Hojlund, Katrin Horn, Willa A. Hsueh, Yi-Jen Hung, Chii-Min Hwu, Anna Jonsson, Line L. Karhus, Marcus E. Kleber, Peter Kovacs, Timo A. Lakka, Marie Lauzon, I-Te Lee, Cecilia M. Lindgren, Jaana Lindstroem, Allan Linneberg, Ching-Ti Liu, Jian'an Luan, Dina Mansour Aly, Elisabeth Mathiesen, Angela P. Moissl, Andrew P. Morris, Narisu Narisu, Nikolaos Perakakis, Annette Peters, Rashmi B. Prasad, Roman N. Rodionov, Kathryn Roll, Carsten F. Rundsten, Chloe Sarnowski, Kai Savonen, Markus Scholz, Sapna Sharma, Sara E. Stinson, Sufyan Suleman, Jingyi Tan, Kent D. Taylor, Matti Uusitupa, Dorte Vistisen, Daniel R. Witte, Romy Walther, Peitao Wu, Anny H. Xiang, Bjoern Zethelius, Emma Ahlqvist, Richard N. Bergman, Yii-Der Ida Chen, Francis S. Collins, Tove Fall, Jose C. Florez, Andreas Fritsche, Harald Grallert, Leif Groop, Torben Hansen, Heikki A. Koistinen, Pirjo Komulainen, Markku Laakso, Lars Lind, Markus Loeffler, Winfried Marz, James B. Meigs, Leslie J. Raffel, Rainer Rauramaa, Jerome I. Rotter, Peter E. H. Schwarz, Michael Stumvoll, Johan Sundstrom, Anke Toenjes, Tiinamaija Tuomi, Jaakko Tuomilehto, Robert Wagner, Ines Barroso, Mark Walker, Niels Grarup, Michael Boehnke, Nicholas J. Wareham, Karen L. Mohlke, Eleanor Wheeler, Stephen O'Rahilly, Daniel J. Fazakerley, Claudia Langenberg
Summary: Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Genome-wide association analyses of two oral glucose tolerance test-derived measures of postprandial insulin resistance discover ten new loci. Functional characterization identifies nine candidate genes implicated in the regulation of GLUT4.
Article
Endocrinology & Metabolism
Minna Harsunen, Jani Haukka, Valma Harjutsalo, Nina Mars, Anna Syreeni, Taina Harkonen, Annemari Karajaemaki, Jorma Ilonen, Mikael Knip, Niina Sandholm, Paivi Johanna Miettinen, Per-Henrik Groop, Tiinamaija Tuomi
Summary: Contrary to the presumption that type 1 diabetes leads to an absolute insulin deficiency, this study found that many individuals with type 1 diabetes still have circulating C-peptide years after diagnosis. The study also identified the correlation between age at diagnosis and decline in C-peptide secretion, as well as the association between polygenic risk scores, clinical factors, and random serum C-peptide concentrations.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Om Prakash Dwivedi, Karina Barreiro, Annemari Karajamaki, Erkka Valo, Anil K. Giri, Rashmi B. Prasad, Rishi Das Roy, Lena M. Thorn, Antti Rannikko, Harry Holthoefer, Kim M. Gooding, Steven Sourbron, Denis Delic, Maria F. Gomez, Per-Henrik Groop, Tiinamaija Tuomi, Carol Forsblom, Leif Groop, Maija Puhka
Summary: By genome-wide sequencing of 200 urinary extracellular vesicle (uEV) mRNA samples from clinical studies, we identified potential candidate biomarkers and mechanisms for studying diabetic kidney disease (DKD) in Type 1 diabetes (T1D), which were validated in both Type 1 and 2 diabetes. The sequencing results revealed over 10,000 mRNAs with similarity to the kidney transcriptome. Thirteen upregulated genes predominantly expressed in proximal tubules, correlated with hyperglycemia and involved in cellular/oxidative stress homeostasis were found in T1D DKD groups. We constructed a transcriptional stress score based on six of these genes (GPX3, NOX4, MSRB, MSRA, HRSP12, and CRYAB), which reflected long-term decline of kidney function and could identify individuals with early decline even in normoalbuminuric patients.
Article
Endocrinology & Metabolism
Yuxia Wei, Katharina Herzog, Emma Ahlqvist, Tomas Andersson, Thomas Nystrom, Yiqiang Zhan, Tiinamaija Tuomi, Sofia Carlsson
Summary: Despite having fewer metabolic risk factors than type 2 diabetes, latent autoimmune diabetes in adults (LADA) has equal to higher risks of death, cardiovascular diseases (CVDs), and retinopathy. Poorer glycemic control, particularly in LADAhigh, highlights the need for improved LADA management.
Article
Multidisciplinary Sciences
Andrew A. Brown, Juan A. Fernandez-Tajes, Mun-gwan W. Hong, Caroline A. Brorsson, Robert W. Koivula, David Davtian, Theo Dupuis, Ambra M. Sartori, Theodora-Dafni Michalettou, Ian H. Forgie, Jonathan Adam, Kristine Allin, Robert Caiazzo, Henna Cederberg, Federico N. De Masi, Petra J. M. Elders, Giuseppe Giordano, Mark Haid, Torben Hansen, Tue H. Hansen, Andrew T. Hattersley, Alison G. Heggie, Cedric Howald, Angus G. Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J. McDonald, Donna McEvoy, Miranda Mourby, Petra B. Musholt, Birgitte Nilsson, Francois Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstrale, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet D. Teare, Leen 't Hart, Konstantinos D. Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Soren Brunak, Paul Franks, Gary Frost, Harald I. Grallert, Bernd Jablonka, Mark McCarthy, Imre Pavo, Oluf Pedersen, Hartmut Ruetten, Mark Walker, Jerzy Adamski, Jochen M. Schwenk, Ewan R. Pearson, Emmanouil T. Dermitzakis, Ana Vinuela, Kofi Adragni, Rosa Lundbye L. A. Allesoe, Anna Artati, Manimozhiyan Arumugam, Naeimeh Atabaki-Pasdar, Tania Baltauss, Karina Banasik, Anna L. Barnett, Patrick Baum, Jimmy D. Bell, Joline B. Beulens, Susanna Bianzano, Roberto Bizzotto, Amelie Bonnefond, Louise Cabrelli, Matilda Dale, Adem Y. Dawed, Nathalie de Preville, Koen F. Dekkers, Harshal A. Deshmukh, Christiane Dings, Louise Donnelly, Avirup Dutta, Beate Ehrhardt, Line Engelbrechtsen, Rebeca Eriksen, Yong Fan, Jorge Ferrer, Hugo Fitipaldi, Annemette Forman, Andreas Fritsche, Philippe Froguel, Johann Gassenhuber, Stephen Gough, Ulrike Graefe-Mody, Rolf Grempler, Lenka Groeneveld, Leif Groop, Valborg Gudmundsdottir, Ramneek Gupta, Anita M. H. Hennige, Anita V. Hill, Reinhard W. Holl, Michelle Hudson, Ulrik Plesner Jacobsen, Christopher Jennison, Joachim Johansen, Anna Jonsson, Tugce Karaderi, Jane Kaye, Gwen Kennedy, Maria Klintenberg, Teemu Kuulasmaa, Thorsten Lehr, Heather Loftus, Agnete Troen T. Lundgaard, Gianluca Mazzoni, Nicky McRobert, Ian McVittie, Rachel Nice, Claudia Nicolay, Giel N. Nijpels, Colin K. Palmer, Helle H. Pedersen, Mandy H. Perry, Hugo Pomares-Millan, Cornelia P. Prehn, Anna Ramisch, Simon Rasmussen, Neil Robertson, Marianne Rodriquez, Peter Sackett, Nina Scherer, Nisha Shah, Iryna Sihinevich, Roderick C. Slieker, Nadja B. Sondertoft, Birgit Steckel-Hamann, Melissa K. Thomas, Cecilia Engel E. Thomas, Elizabeth Louise L. Thomas, Barbara Thorand, Claire E. Thorne, Joachim Tillner, Andrea Tura, Mathias Uhlen, Nienke van Leeuwen, Sabine van Oort, Helene Verkindt, Josef Vogt, Peter W. Wad Sackett, Agata Wesolowska-Andersen, Brandon Whitcher, Margaret W. White
Summary: This study integrates local and distal genetic associations with multi-omics datasets to provide a roadmap for understanding the underlying mechanisms of GWAS variants on complex traits.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Christopher Adams, Mitchell F. Conery, Benjamin Auerbach, Shane Jensen, Iain Mathieson, Benjamin Voight
Summary: The paper introduces a new model called Baymer, which accurately models mutation probabilities by using large sequence context windows. Baymer is able to identify DNA sequences that have the biggest impact on mutability and find motifs with potential mutability between different human populations. The model also handles data sparsity well, generates parsimonious models, and provides quantified uncertainty in estimated rates.
Article
Genetics & Heredity
Karina Barreiro, Om Prakash Dwivedi, Antti Rannikko, Harry Holthoefer, Tiinamaija Tuomi, Per-Henrik Groop, Maija Puhka
Summary: Urinary extracellular vesicles (uEV) contain non-invasive RNA biomarkers for genitourinary tract diseases. This study aimed to assess the effects of preanalytical variables on uEV isolates and discover stable reference mRNAs. The researchers analyzed various sequencing datasets and found that urine storage temperature and isolation workflow affected kidney-RNAs, while ultracentrifugation captured DKD-linked miRNAs. They also identified 11 stable mRNAs across the datasets. These findings highlight the importance of considering preanalytical choices in uEV biomarker studies.
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
Medicine, Research & Experimental
Jaakko Leinonen, Nina Mars, Leevi Lehtonen, Ari Ahola-Olli, Sanni Ruotsalainen, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Terhi Piltonen, Mark Daly, Tiinamaija Tuomi, Samuli Ripatti, Matti Pirinen, Taru Tukiainen
Summary: This study examines the relationship between testosterone levels and human health. The analysis of genetic and health registry data reveals that while testosterone levels are associated with various health characteristics, the causality of these associations is debated. The study shows that testosterone levels are intricately tied to metabolic health but lack of evidence for causality is found in most associations. However, genetically predicted testosterone levels do affect many sex-specific traits.
COMMUNICATIONS MEDICINE
(2023)