Article
Biochemistry & Molecular Biology
Francesco Baratta, Laura D'Erasmo, Alessia Di Costanzo, Ilaria Umbro, Daniele Pastori, Francesco Angelico, Maria Del Ben
Summary: The association between non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD) may be related to shared metabolic risk factors rather than the genetic background of NAFLD.
Article
Surgery
Yanni Li, Lianne M. Nieuwenhuis, Michiel D. Voskuil, Ranko Gacesa, Shixian Hu, Bernadien H. Jansen, Werna T. U. Venema, Bouke G. Hepkema, Hans Blokzijl, Henkjan J. Verkade, Ton Lisman, Rinse K. Weersma, Robert J. Porte, Eleonora A. M. Festen, Vincent E. de Meijer
Summary: This study found that common genetic variants in the donor are associated with an increased risk of thrombosis after liver transplantation, rather than previously known variants related to thrombophilia.
AMERICAN JOURNAL OF TRANSPLANTATION
(2021)
Article
Immunology
Yuan Liu, Rui Wang, Peizhen Wen, Wenbin An, Jinxin Zheng, Tao Zhang, Pengshan Zhang, Haoyu Wang, Fan Zou, Hui Pan, Junwei Fan, Zhihai Peng
Summary: This study investigated the genetic risk of patients with tacrolimus intolerance after liver transplantation. The results suggested that switching to cyclosporine (SFTC) may increase the risk of dyslipidemia and insulin resistance, while specific SNPs of CYP3A5 gene could be potential genetic risks for tacrolimus intolerance.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Gastroenterology & Hepatology
Guido A. Baselli, Oveis Jamialahmadi, Serena Pelusi, Ester Ciociola, Francesco Malvestiti, Marco Saracino, Luigi Santoro, Alessandro Cherubini, Paola Dongiovanni, Marco Maggioni, Cristiana Bianco, Federica Tavaglione, Annalisa Cespiati, Rosellina M. Mancina, Roberta D'Ambrosio, Valentina Vaira, Salvatore Petta, Luca Miele, Umberto Vespasiani-Gentilucci, Alessandro Federico, Jussi Pihlajamaki, Elisabetta Bugianesi, Anna L. Fracanzani, Helen L. Reeves, Giorgio Soardo, Daniele Prati, Stefano Romeo, Luca VC. Valenti
Summary: This study investigated the impact of rare variants on severe non-alcoholic fatty liver disease, and found that loss-of-function variants in the ATG7 gene promote the progression of NAFLD.
JOURNAL OF HEPATOLOGY
(2022)
Article
Genetics & Heredity
Kevin W. Currin, Chael R. Erdos, Narisu Narisu, Vivek Rai, Swarooparani Vadlamudi, Hannah J. Perrin, Jacqueline R. Idol, Tingfen Yan, Ricardo D'Oliveira Albanus, K. Alaine Broadaway, Amy S. Etheridge, Lori L. Bonnycastle, Peter Orchard, John P. Didion, Amarjit S. Chaudhry, Federico Innocenti, Erin G. Schuetz, Laura J. Scott, Stephen C. J. Parker, Francis S. Collins, Karen L. Mohlke
Summary: This study mapped caQTLs in human liver tissue and identified thousands of caQTL variants enriched in liver tissue promoter and enhancer states. We predicted target genes for hundreds of caQTL peaks and identified dozens of colocalized caQTLs and GWAS signals. Validation at the LITAF LDL-cholesterol GWAS locus showed allelic differences in protein binding and transcriptional activity for a caQTL variant.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Xiaohua Yang, Christina K. Rapp, Yang Li, Maria Forstner, Matthias Griese
Summary: ATP-binding cassette subfamily A member 3 (ABCA3) is a lipid transporter within alveolar type II cells, and its variants can lead to interstitial lung disease with variable severity. We characterized and quantified the overall lipid transport function of ABCA3 variants by assessing their intracellular trafficking and pumping activity. The dysfunction of the variants was found to affect the transport of phosphatidylcholine into ABCA3(+) vesicles, and a loss of more than approximately 50% of function predicted significant morbidity and mortality. The in vitro quantification of ABCA3 function can help characterize genetic variants and improve phenotype prediction, potentially aiding in treatment decisions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Jose Maria Garcia-Aznar, Emilia Maneiro Pampin, Maite Garcia Ramos, Maria Jose Acuna Perez, Nerea Paz Gandiaga, Laura Minguell Domingo, Olga Calavia, Pere Soler-Palacin, Roger Colobran, Erika M. Novoa Bolivar, Javier Gonzalo Ocejo Vinyals
Summary: We report five novel loss-of-function mutations in IRF2BP2 that likely cause primary immunodeficiency, with CVID as the most frequent phenotype, variable expression of inflammatory gastrointestinal features, and one patient with predisposition to viral infection. These mutations include frameshift changes and a large deletion on chromosome 1q42, which includes the whole sequence of IRF2BP2. Both de novo and dominant modes of inheritance were observed, as well as incomplete penetrance.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Alexandra A. Soukup, Daniel R. Matson, Peng Liu, Kirby D. Johnson, Emery H. Bresnick
Summary: The study explores conditionally pathogenic enhancer motif variants that differentially affect hematopoietic development and regeneration, as well as an Ets motif variant that autonomously disrupts hematopoiesis in hematopoietic cells.
Article
Medicine, Research & Experimental
Yuan-Chin Tsai, Chao-Yuan Huang, Yu-Mei Hsueh, Yu-Ching Fan, Yu-Cin Fong, Shu-Pin Huang, Jiun-Hung Geng, Lih-Chyang Chen, Te-Ling Lu, Bo-Ying Bao
Summary: This study investigated the association of MAPK cascade genes with renal cell carcinoma risk and survival, revealing that a specific single nucleotide polymorphism in the MAPK10 gene is linked to lower RCC risk and metastasis. High MAPK10 expression is associated with a favorable prognosis, and MAPK10 activation can inhibit RCC cell growth.
Review
Pharmacology & Pharmacy
Luis Tellez, Antonio Guerrero
Summary: Patients with advanced liver disease often experience systemic complications, including renal complications, acute-on-chronic liver failure, cardiopulmonary diseases, and relative adrenal insufficiency. Early diagnosis and prompt initiation of specific treatments are crucial in improving patients' quality of life and prognosis. Collaborating with multidisciplinary teams in reference centers is essential for comprehensive evaluation and treatment.
CLINICAL DRUG INVESTIGATION
(2022)
Article
Health Care Sciences & Services
Pedro Ayuso, Elena Garcia-Martin, Jose A. Cornejo-Garcia, Jose A. G. Agundez, Jose Maria Ladero
Summary: Alcohol-related liver disease is a significant public health issue caused by excessive alcohol consumption, encompassing a range of chronic liver lesions. Specific mutations in alcohol metabolism genes have been found to be significantly protective against the development of alcohol-related liver cirrhosis.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Asa Noren, Mihai Oltean, Styrbjorn Friman, Antonio Molinaro, Johan Molne, Carina Sihlbom, Gustaf Herlenius, Annika Thorsell
Summary: Acute kidney injury (AKI) is common after liver transplantation (LT) and is related to the later development of chronic kidney disease. This study found that grafts from LT recipients who develop early AKI have distinct proteomic alterations, primarily dominated by an early yet prominent activation of innate immunity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Zhen Ren, Stephen J. Perkins, Latisha Love-Gregory, John P. Atkinson, Anuja Java
Summary: Genetic testing in a kidney transplant cohort revealed rare variants in complement proteins associated with TMA and C3G, with approximately 50% classified as variants of uncertain significance. Structural and functional analysis of identified variants in complement factor H were conducted, determining both deleterious and normal functional activity. The study highlights the importance of functional analysis of genetic variants in complex clinicopathologic scenarios, providing insights for clinical decision making after kidney transplantation.
FRONTIERS IN MEDICINE
(2021)
Review
Pharmacology & Pharmacy
Degong Jia, Shanshan Guo, Xinyi Wu, Minjie Zhao, Jiefu Luo, Mingxiang Cheng, Yajun Qin
Summary: This article summarizes the results of clinical trials of Dexmedetomidine (DEX) in liver transplant patients. Meta-analysis showed that compared with the control group, the DEX group had reduced warm ischemia time, improved postoperative liver and renal function, reduced the risk of moderate-to-extreme liver ischemia-reperfusion injury, and decreased hospital stay. Subgroup analysis suggested that DEX may have better efficacy in living donors and adult recipients.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Environmental Sciences
Tian Wang, Ziquan Lv, Xuejun Fu, Sijia Zheng, Zijie Yang, Xuan Zou, Yuewei Liu, Yanwei Zhang, Ying Wen, Qi Lu, Hui Huang, Suli Huang, Ran Liu
Summary: The study found that high levels of arsenic and molybdenum may be independent risk factors for mild renal impairment, and they also exhibit a combined effect. The findings are supported by the WQS and restricted cubic spline analysis.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2022)