Article
Medicine, General & Internal
Marcello Dallio, Mario Masarone, Mario Romeo, Concetta Tuccillo, Filomena Morisco, Marcello Persico, Carmelina Loguercio, Alessandro Federico
Summary: The study aimed to explore the effect of silybin-phospholipids complex treatment in NAFLD patients carrying PNPLA3-rs738409, TM6SF2-rs58542926, or MBOAT7-rs641738 genetic variants. Results showed that wild-type patients had significant improvement in various factors compared to mutated patients, indicating that genetic mutations could influence treatment response in NAFLD patients.
FRONTIERS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Pablo Gabriel-Medina, Roser Ferrer-Costa, Francisco Rodriguez-Frias, Andreea Ciudin, Salvador Augustin, Jesus Rivera-Esteban, Juan M. Pericas, David Martinez Selva
Summary: This study investigated the relationship between insulin resistance, type 2 diabetes, and specific genetic polymorphisms with advanced fibrosis in nonalcoholic steatohepatitis (NASH). The results showed that insulin resistance and type 2 diabetes increase the risk of advanced fibrosis in NASH patients with specific genetic polymorphisms.
Article
Medicine, General & Internal
Ana Bainrauch, Dino Sisl, Antonio Markotic, Ana Ostojic, Slavko Gasparov, Valerija Bralic Lang, Natasa Kovacic, Danka Grcevic, Anna Mrzljak, Tomislav Kelava
Summary: Certain genetic polymorphisms are associated with the occurrence of alcoholic liver cirrhosis and hepatocellular carcinoma. Polymorphisms in PNPLA3, TM6SF2, and NOTCH3 are closely related to the development of alcoholic liver cirrhosis, while PNPLA3 and EGF polymorphisms are associated with hepatocellular carcinoma.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Gastroenterology & Hepatology
Rafael Paternostro, Katharina Staufer, Stefan Traussnigg, Albert-Friedrich Stattermayer, Emina Halilbasic, Omar Keritam, Elias L. Meyer, Judith Stift, Fritz Wrba, Bence Sipos, Ali Canbay, Martin Schlattjan, Elmar Aigner, Christian Datz, Felix Stickel, Clemens Schafmayer, Jochen Hampe, Stephan Buch, Gerhard Prager, Petra Munda, Mattias Mandorfer, Peter Ferenci, Michael Trauner
Summary: Several genetic polymorphisms, including PNPLA3, TM6SF2, and HSD17B13, have been associated with severity of NAFLD. Incorporating these genetic risk factors into risk stratification models may improve predictive accuracy for severity of NAFLD and/or advanced fibrosis on liver biopsy.
HEPATOLOGY INTERNATIONAL
(2021)
Review
Oncology
Yoshiaki Sunami, Artur Rebelo, Joerg Kleeff
Summary: Aberrant lipid synthesis and reprogrammed lipid metabolism are associated with pancreatic and liver cancer development and progression. Lipid droplets and their associated factors play important roles in cancer proliferation, invasion, metastasis, and chemotherapy resistance. Understanding the specific roles of lipid droplet-associated factors is crucial for developing new therapeutic options in the future.
Article
Gastroenterology & Hepatology
Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. H. Griffiths, Michael Way, Thomas W. M. Buckley, John D. Ryan, Stephen Stewart, Callum Wright, Paola Dongiovanni, Anna Fracanzani, Jochen Zwerina, Uta Merle, Karl Heinz Weiss, Elmar Aigner, Elisabeth Krones, Christian Dejaco, Janett Fischer, Thomas Berg, Luca Valenti, Heinz Zoller, Andrew McQuillin, Jochen Hampe, Felix Stickel, Marsha Y. Morgan
Summary: This study found significant associations between the PCSK7:rs236918, PNPLA3:rs738409, and TM6SF2:rs58542926 variants and cirrhosis risk in C282Y homozygotes. These associations remained significant in the subpopulation with available liver histology. The population-attributable fractions for carriage of all three variants combined was 24.0%.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Nutrition & Dietetics
Mari Lahelma, Panu K. Luukkonen, Sami Qadri, Noora Ahlholm, Susanna Lallukka-Bruck, Kimmo Porthan, Anne Juuti, Henna Sammalkorpi, Anne K. Penttila, Johanna Arola, Marju Orho-Melander, Hannele Yki-Jarvinen
Summary: Detailed assessment of lifestyle factors, in addition to physical, biochemical and genetic factors, helps identify obese patients with non-alcoholic fatty liver disease (NAFLD) fibrosis more accurately. This comprehensive approach was shown to be more effective in predicting NAFLD fibrosis than evaluating lifestyle, physical, biochemical, or genetic factors alone.
Article
Gastroenterology & Hepatology
Magnus Holmer, Mattias Ekstedt, Patrik Nasr, Robin Zenlander, Axel Wester, Federica Tavaglione, Stefano Romeo, Stergios Kechagias, Per Stal, Hannes Hagstrom
Summary: The study found that the PNPLA3 G/G genotype is associated with an increased rate of severe liver disease in patients with NAFLD, while overall mortality is not affected by any genetic variant.
LIVER INTERNATIONAL
(2022)
Article
Biochemistry & Molecular Biology
Jia Liu, Wenqian Qi, Song Wang, Yonggui Zhang, Xu Wang, Derong Sun, Yanhui Xu, Jingyi Shi, Honglei Duan, Qian Zhang, Hongguang Wang, Jiangbin Wang
Summary: This study aimed to investigate the effect of metabolic disorders induced by genetic factors on chronic kidney disease (CKD) in patients with chronic hepatitis C virus (HCV) infections. The results showed that specific PNPLA3 rs738409 and TM6SF2 rs58542926 variants are independent risk factors for CKD in patients with chronic HCV infections and are associated with the severity of renal injury.
LIPIDS IN HEALTH AND DISEASE
(2023)
Article
Pediatrics
Kyung Jae Lee, Jin Soo Moon, Nan Young Kim, Jae Sung Ko
Summary: The study found that genetic variants of PNPLA3, TM6SF2, and SAMM50 are associated with the development and severity of pediatric NAFLD, with a greater impact in children with overweight. These four genetic variants have synergistic effects on the severity of pediatric NAFLD.
Article
Multidisciplinary Sciences
Jong Seo Yoon, Kyoung Ja Lim, Il Tae Hwang
Summary: This study evaluated the role of two-dimensional shear wave elastography (2D-SWE) in the diagnosis and severity assessment of paediatric non-alcoholic fatty liver disease (NAFLD). The results showed that 2D-SWE can be used as a non-invasive diagnostic tool for diagnosing and assessing the severity of paediatric NAFLD.
SCIENTIFIC REPORTS
(2023)
Article
Gastroenterology & Hepatology
Arthur Ivan N. Oliveira, Fernanda M. Malta, Patricia Momoyo Y. Zitelli, Ana Paula M. Salles, Michele S. Gomes-Gouvea, Ana Catharina S. Nastri, Joao Renato R. Pinho, Flair J. Carrilho, Claudia P. Oliveira, Maria Cassia Mendes-Correa, Mario G. Pessoa, Daniel F. Mazo
Summary: Despite the growing body of knowledge about TM6SF2 and PNPLA3 polymorphisms in non-alcoholic fatty liver disease, their influence in the spectrum of HCV liver disease is not yet fully defined. In this evaluation of an admixed HCV population, neither TM6SF2 nor PNPLA3 polymorphisms were independently associated with hepatic steatosis or fibrosis. Other factors seem more influential than these specific polymorphisms in isolation.
BMC GASTROENTEROLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Koutaro Yokote, Shizuya Yamashita, Hidenori Arai, Eiichi Araki, Mitsunori Matsushita, Toshiaki Nojima, Hideki Suganami, Shun Ishibashi
Summary: The study found that pemafibrate can improve glucose metabolism and liver function in patients with hypertriglyceridemia, and increase FGF21 levels without increasing the risk of adverse events.
CARDIOVASCULAR DIABETOLOGY
(2021)
Article
Gastroenterology & Hepatology
Elizabeth P. Newberry, Zoe Hall, Yan Xie, Elizabeth A. Molitor, Peter O. Bayguinov, Gregory W. Strout, James A. J. Fitzpatrick, Elizabeth M. Brunt, Julian L. Griffin, Nicholas O. Davidson
Summary: The study demonstrates that liver-specific Tm6SF2 deletion impairs VLDL secretion, leading to hepatic steatosis, fibrosis, and accelerated development of HCC. This impact can be mitigated with AAV8-mediated rescue, showing promise for potential therapeutic interventions.
Article
Public, Environmental & Occupational Health
Kathryn L. Gwizdala, Lydia A. Bazzano, Robert L. Newton Jr, Owen T. Carmichael
Summary: Glycemic markers throughout life are associated with worse midlife cognition, especially in women, African Americans, and White Americans. This association may reflect broader health disparities.
FRONTIERS IN PUBLIC HEALTH
(2023)