Article
Medicine, General & Internal
Yusuke Ebana, Lian Liu, Kensuke Ihara, Keiko Abe, Chikashi Terao, Yoichiro Kamatani, Tetsuo Sasano, Tetsushi Furukawa
Summary: This study aimed to explore novel ischemic stroke risk variants in patients with a history of atrial fibrillation (AF), and to investigate their associations with CHADS2 and CHA2DS2-VASc scores. By conducting an association study on 8181 AF cases, we identified eight genetic loci that were potentially associated with the risk of ischemic stroke. Further analysis showed that these associations were independent of CHADS2 or CHA2DS2-VASc scores.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Statistics & Probability
Bingxin Zhao, Hongtu Zhu
Summary: The study investigates and addresses the bias phenomenon of cross-trait PRS in numerous GWAS applications and proposes a consistent estimator to correct the bias. Results show that the bias-corrected estimators uncover a moderate degree of genetic overlap between cognitive function and human brain structures.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2022)
Article
Genetics & Heredity
Peiqi Wang, Xinghan Sun, Qiang Miao, Hao Mi, Minyuan Cao, Shan Zhao, Yiyi Wang, Yang Shu, Wei Li, Heng Xu, Ding Bai, Yan Zhang
Summary: This study investigated the genetic predispositions of aesthetic facial traits in the Chinese population. Several novel genetic associations were identified, and functional annotation and polygenic scores were used to understand the genetic basis of these traits.
FRONTIERS IN GENETICS
(2022)
Article
Rheumatology
Chien-Yu Lin, Ya-Sian Chang, Ting-Yuan Liu, Chung-Ming Huang, Chin-Chun Chung, Yu-Chia Chen, Fuu-Jen Tsai, Jan-Gowth Chang, Shun-Jen Chang
Summary: This study identified genetic variants and polygenic risk scores related to female gout and asymptomatic hyperuricaemia (AH) through a genome-wide association study (GWAS). The variants in the SLC2A9 gene were found to be the major genetic factors associated with gout in females aged >= 50, while variants in the SLC2A9, ZNF518B, PKD2, and ABCG2 genes were significantly related to AH in both age groups. The polygenic risk score provided a more accurate prediction of gout and AH.
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
Cardiac & Cardiovascular Systems
Carolina Roselli, Mengyao Yu, Victor Nauffal, Adrien Georges, Qiong Yang, Katie Love, Lu-Chen Weng, Francesca N. Delling, Svetlana R. Maurya, Maren Schrolkamp, Jacob Tfelt-Hansen, Albert Hagege, Xavier Jeunemaitre, Stephanie Debette, Philippe Amouyel, Wyliena Guan, Jochen D. Muehlschlegel, Simon C. Body, Svati Shah, Zainab Samad, Sergiy Kyryachenko, Carol Haynes, Michiel Rienstra, Thierry Le Tourneau, Vincent Probst, Ronan Roussel, Inez J. Wijdh-Den Hamer, Joylene E. Siland, Kirk U. Knowlton, Jean Jacques Schott, Robert A. Levine, Emelia J. Benjamin, Ramachandran S. Vasan, Benjamin D. Horne, Joseph B. Muhlestein, Giovanni Benfari, Maurice Enriquez-Sarano, Andrea Natale, Sanghamitra Mohanty, Chintan Trivedi, Moore B. Shoemaker, Zachary T. Yoneda, Quinn S. Wells, Michael T. Baker, Eric Farber-Eger, Hector Michelena, Alicia Lundby, Russell A. Norris, Susan A. Slaugenhaupt, Christian Dina, Steven A. Lubitz, Nabila Bouatia-Naji, Patrick T. Ellinor, David J. Milan
Summary: We conducted a meta-analysis of six genome-wide association studies and identified 14 loci associated with mitral valve prolapse (MVP). Integration of epigenetic, transcriptional, and proteomic data revealed potential candidate genes for MVP. Additionally, we developed a polygenic risk score (PRS) for MVP that improved risk prediction beyond traditional clinical factors.
EUROPEAN HEART JOURNAL
(2022)
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)
Review
Chemistry, Multidisciplinary
Qian Cao, Xin Du, Xiao-yan Jiang, Yuan Tian, Chen-hao Gao, Zi-yu Liu, Ting Xu, Xing-xing Tao, Ming Lei, Xiao-qiang Wang, Lingyu Linda Ye, Dayue Darrel Duan
Summary: SARS-CoV-2 infection not only damages the lungs, but also affects the heart, endothelial cells, and multiple organs' vasculature, leading to systemic inflammation and immune over-reactions, which makes COVID-19 a disease that simultaneously affects multiple systems. Cardiovascular diseases (CVD) are both intrinsic risk factors and causative factors for severe COVID-19 comorbidities and death. The wide-spread infection and reinfection of SARS-CoV-2 variants, along with long-COVID, may pose a new common threat to human health, impacting the risk factors, pathophysiology, and pharmacology of various diseases, including CVD, for a long time. COVID-19 has highlighted the urgent need for precision medicine, which requires the development of a new knowledge network to innovate disease taxonomy for more precise diagnosis, therapy, and prevention. A paradigm shift is needed in the understanding of CVD in the context of the COVID-19 phenome, shifting from the current focus on the virus or individual symptoms to a phenomics approach that considers the inter-connectedness of clinical phenotypes, known as clinical phenome. This article summarizes the manifestations of CVD in the full clinical spectrum of COVID-19 and discusses the phenome-wide association study of CVD in relation to COVID-19. The underlying biology of CVD in the COVID-19 phenome and the concept of precision medicine with a new phenomic taxonomy that addresses the overall pathophysiological responses of the body to SARS-CoV-2 infection are also discussed. The unique taxonomy of diseases as Zheng-hou patterns in traditional Chinese medicine and their potential implications in precision medicine of CVD in the post-COVID-19 era are briefly explored.
ACTA PHARMACOLOGICA SINICA
(2023)
Article
Geriatrics & Gerontology
Chunyu Li, Ruwei Ou, Qianqian Wei, Huifang Shang
Summary: A study found genetic enrichment between ALS and obesity-related traits, identifying 9 shared genetic loci. Functional enrichment analysis indicated that the shared risk genes were involved in membrane trafficking and vesicle-mediated transport pathways.
NEUROBIOLOGY OF AGING
(2021)
Article
Nutrition & Dietetics
Nagham Nafiz Hendi, Yasser Al-Sarraj, Umm-Kulthum Ismail Umlai, Karsten Suhre, Georges Nemer, Omar Albagha
Summary: This study conducted the first genome-wide association study on Middle Easterners to identify the genetic determinants of Vitamin D levels. It identified an association between a known locus for the GC gene and Vitamin D levels, as well as two novel variants on chromosome 11. The study highlights the genetic heterogeneity across different populations and the significance of genetic factors in Vitamin D deficiency.
FRONTIERS IN NUTRITION
(2023)
Review
Biochemistry & Molecular Biology
Dennis Cerrato-Izaguirre, Yolanda Chirino, Claudia M. Garcia-Cuellar, Miguel Santibanez-Andrade, Diddier Prada, Angelica Hernandez-Guerrero, Octavio Alonso Larraga, Javier Camacho, Yesennia Sanchez-Perez
Summary: Latin-America is the second region with high incidence of gastric cancer, with gastric adenocarcinoma comprising 95% of the cases. This study provides a mutational landscape of gastric adenocarcinoma in Latin-America, identifying pathogenic and risk variants associated with hereditary and sporadic gastric adenocarcinoma, and explores the application of this landscape in precision medicine. Brazil, Chile, Colombia, Mexico, Peru, and Venezuela are the countries with the most published studies related to gastric adenocarcinoma in Latin-America.
Article
Ophthalmology
Hao-Kai Chuang, Ai-Ru Hsieh, Tien-Yap Ang, Szu-Wen Chen, Yi-Ping Yang, Hung-Juei Huang, Shih-Hwa Chiou, Tai -Chi Lin, Shih-Jen Chen, Chih-Chien Hsu, De-Kuang Hwang
Summary: This study identified TMEM132D and VIPR2 as genetic candidates linked to RD in Han Chinese populations, and developed a PRS that effectively predicts the risk of RD.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(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.
Review
Endocrinology & Metabolism
Aaron J. Deutsch, Emma Ahlqvist, Miriam S. Udler
Summary: The historical classification of diabetes into types 1 and 2 is limited in capturing the heterogeneity of the disease. Data-driven approaches using clinical phenotypes and/or genetic information can help refine diabetes subtypes, but implementation barriers need to be overcome.
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.