Article
Agriculture, Dairy & Animal Science
Asha M. Miles, Christian J. Posbergh, Heather J. Huson
Summary: New genetic markers associated with udder and teat conformation in cows were identified, and a composite risk index was proposed to determine potential genes related to mastitis. Integrating genetic information into breeding programs can efficiently reduce economic losses caused by mastitis.
Article
Cell & Tissue Engineering
Y. Jia, X. Qi, M. Ma, S. Cheng, B. Cheng, C. Liang, X. Guo, F. Zhang
Summary: This study aimed to explore novel regulatory genetic variants associated with bone mineral density (BMD). Through an integrative analysis of BMD genome-wide association study and regulatory single nucleotide polymorphism (rSNP) annotation information, we identified 36 common genes associated with BMD, such as FAM3C, CCDC170, and SOX6. Additionally, multiple gene ontology terms related to BMD were detected. These findings support the implication of regulatory genetic variants in the development of osteoporosis.
BONE & JOINT RESEARCH
(2023)
Article
Oncology
Hanla A. Park, Dominic Edelmann, Federico Canzian, Petra Seibold, Tabitha A. Harrison, Xinwei Hua, Qian Shi, Allison Silverman, Axel Benner, Angelica Macauda, Martin Schneider, Richard M. Goldberg, Steven R. Alberts, Michael Hoffmeister, Hermann Brenner, Andrew T. Chan, Ulrike Peters, Polly A. Newcomb, Jenny Chang-Claude
Summary: We conducted the first large-scale genome-wide association study to identify genetic variants that can predict the prognosis of colorectal cancer patients undergoing different chemotherapy treatments. Our analysis revealed specific loci associated with overall survival in stage III colon cancer patients and metastatic colorectal cancer patients. These findings may have significant implications for personalized treatment and improved clinical outcomes.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Medicine, General & Internal
Chun Yu Li, Tian Mi Yang, Ru Wei Ou, Qian Qian Wei, Hui Fang Shang
Summary: The study found a significant positive genetic correlation between ALS and celiac disease, multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus, as well as a significant negative genetic correlation between ALS and inflammatory bowel disease, ulcerative colitis, and Crohn's disease. Three novel ALS risk genes were identified among shared risk loci.
Article
Biotechnology & Applied Microbiology
Yan Jing, Weili Teng, Lijuan Qiu, Hongkun Zheng, Wenbin Li, Yingpeng Han, Xue Zhao
Summary: The study of 185 representative soybean accessions revealed partial resistance related to SSR disease, and potential candidate genes were identified through sequencing and association analysis.
Review
Biochemistry & Molecular Biology
Frederick J. Boehm, Xiang Zhou
Summary: Genome-wide association studies have provided numerous associations for common diseases and complex traits. Mendelian randomization methods, utilizing SNP associations, help uncover causal relationships between complex traits. The availability of GWAS summary statistics has motivated the development of new Mendelian randomization methods with relaxed causality assumptions, offering opportunities for robust biological discoveries.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Biochemistry & Molecular Biology
Daisuke Nishizawa, Tsutomu Mieda, Miki Tsujita, Hideyuki Nakagawa, Shigeki Yamaguchi, Shinya Kasai, Junko Hasegawa, Kyoko Nakayama, Yuko Ebata, Akira Kitamura, Hirotomo Shimizu, Tadayuki Takashima, Masakazu Hayashida, Kazutaka Ikeda
Summary: The sensitivity to opioids varies among individuals. In this study, a three-stage genome-wide association study was conducted to identify potential genetic variations associated with the individual differences in the minimum effective concentration (MEC) of fentanyl in patients who underwent laparoscopic-assisted colectomy. The study revealed that a specific intergenic SNP (rs966775) was significantly associated with the plasma and effect-site MEC of fentanyl over specific postoperative periods.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Statistics & Probability
Jianqiao Wang, Wanjie Wang, Hongzhe Li
Summary: This paper proposes a method for detecting genetic associations between different traits by modeling linkage disequilibrium (LD) and introducing a new test statistic and eigenvector-projected score statistic. The method is applied to study pediatric autoimmune diseases and identifies regions that explain the genetic sharing between certain diseases.
ANNALS OF APPLIED STATISTICS
(2022)
Article
Immunology
Cheng Peng, Feng Liu, Kuan-Jui Su, Xu Lin, Yu-Qian Song, Jie Shen, Shi-Di Hu, Qiao-Cong Chen, Hui-Hui Yuan, Wen-Xi Li, Chun-Ping Zeng, Hong-Wen Deng, Hui-Ling Lou
Summary: Strong relationships were found between appendicular lean mass (ALM) and bone mineral density (BMD). Leveraging pleiotropy with BMD, this study identified 26 novel potential pleiotropic SNPs for ALM. Through a combined analysis of two large independent genome wide association studies, this research demonstrated the efficiency and reliability of the cFDR methodology in detecting trait-associated genetic variants for ALM.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Huan Liu, Su-Xian Long, Shannon R. M. Pinson, Zhong Tang, Mary Lou Guerinot, David E. Salt, Fang-Jie Zhao, Xin-Yuan Huang
Summary: Rice is a major dietary source of both essential mineral nutrients and toxic elements for half of the world's human population. This study identified multiple QTLs controlling the concentrations of mineral nutrients and toxic trace metals in rice through principal component analysis (PCA) and multivariate QTL analyses. The identification of elemental QTLs and PC QTLs will facilitate the cloning of underlying causal genes and the dissection of the complex regulation of the ionome in rice.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Chiara Corradi, Manuel Gentiluomo, Laszlo Gajdan, Giulia Martina Cavestro, Edita Kreivenaite, Gregorio Di Franco, Cosimo Sperti, Matteo Giaccherini, Maria Chiara Petrone, Francesca Tavano, Domenica Gioffreda, Luca Morelli, Pavel Soucek, Angelo Andriulli, Jakob R. Izbicki, Niccolo Napoli, Ewa Malecka-Panas, Peter Hegyi, John P. Neoptolemos, Stefano Landi, Yogesh Vashist, Claudio Pasquali, Ye Lu, Klara Cervena, George E. Theodoropoulos, Stefania Moz, Gabriele Capurso, Oliver Strobel, Silvia Carrara, Thilo Hackert, Viktor Hlavac, Livia Archibugi, Martin Oliverius, Giuseppe Vanella, Pavel Vodicka, Paolo Giorgio Arcidiacono, Raffaele Pezzilli, Anna Caterina Milanetto, Rita T. Lawlor, Audrius Ivanauskas, Andrea Szentesi, Juozas Kupcinskas, Sabrina G. G. Testoni, Martin Lovecek, Michael Nentwich, Maria Gazouli, Claudio Luchini, Raffaella Alessia Zuppardo, Erika Darvasi, Hermann Brenner, Cristian Gheorghe, Krzysztof Jamroziak, Federico Canzian, Daniele Campa
Summary: A new PDAC risk locus was identified, with genetic variation disrupting the binding between lncRNA and miRNA possibly affecting the development of PDAC.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Chemistry, Physical
Trupti Mohanty, Sharmistha Dutta Choudhury
Summary: This study presents a simple and unique supramolecular strategy for effective detection of fluoride and phosphate using reversible coordination of Al(III) with the chromophore quinizarin (QZ). The fluorescence ensembles formed by this strategy allow discrimination of biologically relevant phosphates, and the system operates in aqueous medium with ratiometric fluorescence mode.
JOURNAL OF MOLECULAR LIQUIDS
(2022)
Article
Neurosciences
Moonil Kang, Ting Fang Alvin Ang, Sherral A. Devine, Richard Sherva, Shubhabrata Mukherjee, Emily H. Trittschuh, Laura E. Gibbons, Phoebe Scollard, Michael Lee, Seo-Eun Choi, Brandon Klinedinst, Connie Nakano, Logan C. Dumitrescu, Alaina Durant, Timothy J. Hohman, Michael L. Cuccaro, Andrew J. Saykin, Walter A. Kukull, David A. Bennett, Li-San Wang, Richard P. Mayeux, Jonathan L. Haines, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Paul K. Crane, Rhoda Au, Kathryn L. Lunetta, Jesse B. Mez, Lindsay A. Farrer
Summary: By exploring associations with AD-related endophenotypes, we have identified genetic variants associated with Alzheimer's disease (AD). We discovered associations with five established loci and eight novel loci. These findings provide insights into the biological pathways underlying cognitive impairment and AD, and offer a potential approach for syndrome-specific precision medicine.
MOLECULAR NEURODEGENERATION
(2023)
Article
Pharmacology & Pharmacy
Hongying Zhao, Jinying Jiang, Mingshan Wang, Zixue Xuan
Summary: This study identified three m6A-SNPs (rs178184, rs35782901, and rs60571683) that may be associated with colorectal cancer (CRC), indicating a potential role of genetic determinants of m6A modification in CRC. However, the lack of analysis of primary CRC samples is a major limitation, and further investigations are needed to validate these CRC-associated m6A-SNPs.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2021)
Article
Health Care Sciences & Services
Sonja A. G. A. Grothues, Klaus Radermacher
Summary: The study investigated the 3D J-Curve of 90 cadaveric femora using principal component analysis and geometric parameter analysis. It found similarities in shape characteristics between male and female J-Curves, but differences in size. In addition to size changes, variations in arc lengths, orientation, circularity, and relative location were observed.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Psychology, Clinical
Gloria Hoi-Yee Li, Ching-Lung Cheung, Albert Kar-Kin Chung, Bernard Man-Yung Cheung, Ian Chi-Kei Wong, Marcella Lei Yee Fok, Philip Chun-Ming Au, Pak-Chung Sham
Summary: This study aims to investigate the causal relationship between genetic predisposition to depression and cardiovascular disease (CVD). The results show a genetic correlation between depression and myocardial infarction (MI) and atrial fibrillation (AF), and causality between genetically doubling the odds of depression and increased risk of CAD and MI. Adjustment for blood lipid levels and smoking status attenuated the causal relationship between depression and CAD/MI.
PSYCHOLOGICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Eric S. Orwoll, Neeta Parimi, Jack Wiedrick, Jodi Lapidus, Nicola Napoli, Jeremy E. Wilkinson, Curtis Huttenhower, Lisa Langsetmo, Douglas P. Kiel
Summary: This study investigated the associations between fecal microbiota and bone density, microarchitecture, and strength. The findings suggest a role for gut microbiota in skeletal homeostasis, although the effect sizes were small and larger cohort sizes may be needed for more confident associations.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Virology
Suhas Krishnamoorthy, Gloria H-Y Li, Ching-Lung Cheung
Summary: This study used summary data-based Mendelian randomization analysis to identify 309 significant gene-trait associations potentially causally associated with severe COVID-19. These genes are involved in multiple biological processes and improve our understanding of the mechanism of COVID-19, providing insights for the development of therapeutic agents for treating severe COVID-19. Additionally, unique genes and biological processes were identified for hospitalized COVID-19 and SARS-CoV-2 infection.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Endocrinology & Metabolism
Ching-Ti Liu, Timothy Tsai, Brett T. Allaire, Mary L. Bouxsein, Marian T. Hannan, Thomas G. Travison, Douglas P. Kiel
Summary: This study examines the association between changes in visceral adipose tissue (VAT) over 6 years and paraspinal muscle density, finding that greater accumulation of VAT is associated with lower muscle density.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Public, Environmental & Occupational Health
Wang Chun Kwok, Terence Chi Chun Tam, Chor Wing Sing, Esther Wai Yin Chan, Ching-Lung Cheung
Summary: This study evaluated the validity of the ICD-9 code algorithm for identifying bronchiectasis in the CDARS database in Hong Kong. Among 19,617 patients in public hospitals and 1,866 patients in Queen Mary Hospital, the overall positive predictive value (PPV) for the ICD-9 code 494 diagnosis of bronchiectasis was 92.7%.
PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
(2023)
Article
Multidisciplinary Sciences
Francisco Tsz Tsun Lai, Min Fan, Caige Huang, Celine Sze Ling Chui, Eric Yuk Fai Wan, Xue Li, Carlos King Ho Wong, Ching-Lung Cheung, Ian Chi Kei Wong, Esther Wai Yin Chan
Summary: Extending the interval between doses of mRNA Covid-19 vaccines has been linked with a reduced risk of myocarditis in children and adolescents, but impacts on vaccine effectiveness are not known.
NATURE COMMUNICATIONS
(2023)
Article
Nutrition & Dietetics
Lihi Grinberg, Fadwa Dabbah Assadi, Gideon Baum, Romy Zemel, Ran Tur-Kaspa, Chen Shochat, David Karasik, Marcela V. V. Karpuj
Summary: Non-alcoholic fatty liver disease (NAFLD) is a major cause of chronic liver disease, cirrhosis, and hepatocellular carcinoma, resulting from excessive liver fat accumulation. Vitamin D (VitD) plays multiple important roles in diverse physiological processes. This study explores the role of VitD in NAFLD pathogenesis and its potential therapeutic role in NAFLD treatment through the induction of NAFLD in zebrafish and the monitoring of VitD supplementation effects.
Review
Endocrinology & Metabolism
Kat-Tik Lau, Suhas Krishnamoorthy, Chor-Wing Sing, Ching Lung Cheung
Summary: The purpose of this review was to systematically examine recent studies on the association between metabolites and bone mineral density (BMD) in humans. A total of 16 articles were included in this review after screening 170 studies. More than 400 unique metabolites in blood were found to be significantly associated with BMD, and valine and glycine were consistently associated with BMD, while leucine showed inconsistent associations.
CURRENT OSTEOPOROSIS REPORTS
(2023)
Article
Medicine, General & Internal
Gloria Hoi-Yee Li, Ching -Lung Cheung, Kathryn Choon-Beng Tan, Annie Wai-Chee Kung, Timothy Chi-Yui Kwok, Wallis Cheuk-Yin Lau, Janus Siu-Him Wong, Warrington W. Q. Hsu, Christian Fang, Ian Chi-Kei Wong
Summary: Sex-specific hip fracture prediction models were developed using electronic health records (EHR) without bone mineral density (BMD) data. The logistic regression (LR) model showed better discrimination and classification performance than machine learning (ML) algorithms in both internal and independent validation cohorts for both females and males. The LR models could be integrated into routine clinical workflow to identify high-risk individuals for DXA scan.
Article
Endocrinology & Metabolism
Ching-Lung Cheung, Gloria HY. Li, Hang-Long Li, Constance Mak, Kathryn CB. Tan, Annie WC. Kung
Summary: To enhance public awareness and facilitate diagnosis of osteoporosis, a new Chinese Osteoporosis Screening Algorithm (COSA) was developed to identify individuals at high risk of osteoporosis. This algorithm demonstrated improved reclassification performance compared to existing tools and showed significant associations with fracture risk. The COSA was specific for Hong Kong Chinese and can serve as an effective screening tool in this population.
OSTEOPOROSIS AND SARCOPENIA
(2023)
Article
Endocrinology & Metabolism
Jack Dalla Via, Abadi K. Gebre, Cassandra Smith, Zulqarnain Gilani, David Suter, Naeha Sharif, Pawel Szulc, John T. Schousboe, Douglas P. Kiel, Kun Zhu, William D. Leslie, Richard L. Prince, Joshua R. Lewis, Marc Sim
Summary: Abdominal aortic calcification (AAC), a measure of vascular disease, is associated with increased cardiovascular risk and poorer prognosis. An automated machine-learning algorithm has been developed for assessing AAC, which is associated with long-term incident fractures and falls.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Medicine, General & Internal
Xi Xiong, David Tak Wai Lui, Matthew Shing Hin Chung, Ivan Chi Ho Au, Francisco Tsz Tsun Lai, Eric Yuk Fai Wan, Celine Sze Ling Chui, Xue Li, Franco Wing Tak Cheng, Ching-Lung Cheung, Esther Wai Yin Chan, Chi Ho Lee, Yu Cho Woo, Kathryn Choon Beng Tan, Carlos King Ho Wong, Ian Chi Kei Wong
Summary: This study aimed to investigate the risk of incident diabetes following COVID-19 vaccination. The results showed no increased risk of incident diabetes after COVID-19 vaccination. However, SARS-CoV-2 infection was associated with a significantly higher risk of incident diabetes, especially type 2 diabetes.
Letter
Endocrinology & Metabolism
Ching-Lung Cheung
OSTEOPOROSIS AND SARCOPENIA
(2023)
Article
Endocrinology & Metabolism
Jack Dalla Via, Marc Sim, John T. Schousboe, Douglas P. Kiel, Kun Zhu, Jonathan M. Hodgson, Abadi K. Gebre, Robin M. Daly, Richard L. Prince, Joshua R. Lewis
Summary: This study found no significant association between abdominal aortic calcification assessed by dual-energy X-ray absorptiometry (DXA) and peripheral bone density and structure in older women.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Medicine, General & Internal
David Tak Wai Lui, Ivan Chi Ho Au, Eric Ho Man Tang, Ching Lung Cheung, Chi Ho Lee, Yu Cho Woo, Tingting Wu, Kathryn Choon Beng Tan, Carlos King Ho Wong
Summary: This study compared the impacts of SGLT2i and GLP1RA on kidney outcomes in patients with type 2 diabetes and found that SGLT2i may be superior to GLP1RA in reducing kidney outcomes. In real-world application, SGLT2i users had a lower risk of composite kidney outcomes and a slower decline in eGFR.