Article
Biochemistry & Molecular Biology
Simon Birkner, Birte Moehlendick, Benjamin Wilde, Kristina Schoenfelder, Kristina Boss, Winfried Siffert, Andreas Kribben, Justa Friebus-Kardash
Summary: Polymorphisms in G protein subunits are associated with an increased risk of cardiovascular events, including coronary artery stenosis, in patients undergoing renal replacement therapy. Specific genotypes of GNB3 and GNAQ genes are linked to an elevated risk of coronary artery stenosis, severe cardiovascular events affecting multiple organs, and left ventricular dilatation in dialysis patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Quixia Cui, Cagri Aksu, Birol Ay, Claire E. Remillard, Antonius Plagge, Mina Gardezi, Margaret Dunlap, Louis C. Gerstenfeld, Qing He, Murat Bastepe
Summary: Studies have shown that XLαs is predominantly paternally expressed, but there are varying degrees of biallelic expression in bone marrow stromal cells and bone cells. Aberrant differentiation due to constitutively activating GNAS mutations affecting both Gsα and XLαs may be the pathological mechanism underlying fibrous dysplasia of bone.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Zhiyuan Ma, Ping Wang, Milan Mahesh, Cyrus P. Elmi, Saeid Atashpanjeh, Bahar Khalighi, Gang Cheng, Mahesh Krishnamurthy, Koroush Khalighi
Summary: This study aimed to evaluate the predictive ability of different machine learning algorithms for warfarin sensitivity and determine its impact on outcomes in critically ill patients. The logistic regression model was found to be the best for predicting warfarin sensitivity clinically, and warfarin sensitivity was found to be a significant risk factor for adverse outcomes in critically ill patients.
Review
Pharmacology & Pharmacy
Zaiwei Song, Yang Hu, Shuang Liu, Dan Jiang, Zhanmiao Yi, Mason M. Benjamin, Rongsheng Zhao
Summary: This systematic review investigated the genetic association of gene variants within the HDMTX pathway and their impact on clinical outcomes. Certain SNPs were found to be significantly associated with increased risk of HDMTX toxicity, while others showed a tendency towards decreased toxicity. Additional studies with larger sample sizes are needed to further explore the genetic influences on treatment outcomes.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Pharmacology & Pharmacy
Paula Soria-Chacartegui, Gonzalo Villapalos-Garcia, Pablo Zubiaur, Francisco Abad-Santos, Dora Koller
Summary: Olanzapine, aripiprazole, and risperidone are widely used for schizophrenia treatment and can induce various adverse drug reactions. The metabolism and individual genetic polymorphisms of these drugs affect pharmacokinetics and drug responses, necessitating consideration of patient genotypes and potential drug interactions during treatment.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Health Care Sciences & Services
Maria Carmela Padula, Angela Anna Padula, Salvatore D'Angelo, Nancy Lascaro, Rosa Paola Radice, Giuseppe Martelli, Pietro Leccese
Summary: This study investigated the association between rs1800629 genotypes and responses to anti-TNFa therapy in Behcet syndrome patients. The results showed that rs1800629 GG and GA genotypes were associated with treatment response, but there was no correlation between SNP and clinical patterns. Larger and well-characterised cohorts are needed to confirm rs1800629 as a predictive biomarker for TNFa inhibitor response.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Health Care Sciences & Services
Comfort Ropafadzo Kanji, Georginah Nyabadza, Charles Nhachi, Collen Masimirembwa
Summary: This study investigated the effects of an African-specific CYP2D6 variant allele, CYP2D6*17, on the pharmacokinetics of Tamoxifen (TAM) and its active metabolites. The results showed that individuals with the CYP2D6*17/*17 genotype had lower AUC and Cmax of the active metabolites. The CYP2D6*17 variant may have clinical implications for the dosing of TAM in patients.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Tobias Peitz, Birte Moehlendick, Winfried Siffert, Falko Markus Heinemann, Andreas Kribben, Ute Eisenberger, Justa Friebus-Kardash
Summary: This study investigated the effect of the GNB3 c.825C>T polymorphism on cardiovascular events among renal allograft recipients posttransplant. The results showed that recipients with the TT genotype had a higher risk of death due to acute cardiovascular events and lower survival rates for myocardial infarction and acute peripheral artery occlusive disease. However, the homozygous GNB3 T allele only exerted a significant effect on the risk of myocardial infarction and acute peripheral artery occlusive disease in the presence of additional nonheritable risk factors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Paula Ferreira Salles, Daiana Souza Perce-da-Silva, Atila Duque Rossi, Luisa Riehl Raposo, Aina Danaisa Ramirez Ramirez, Otilio Machado Pereira Bastos, Lilian Rose Pratt-Riccio, Gustavo Capatti Cassiano, Andrea Regina Souza Baptista, Cynthia Chester Cardoso, Dalma Maria Banic, Ricardo Luiz Dantas Machado
Summary: The study found uneven distribution of CYP2D6 gene polymorphisms in individuals with Plasmodium vivax malaria in the Brazilian Amazon region, suggesting potential differences in individual responses to pharmacological treatment. Further investigations are needed to determine informative alleles for optimal drug dosing recommendations based on experimental pharmacogenetics.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Michael D. Onken, Carol M. Makepeace, Kevin M. Kaltenbronn, Joelle Choi, Leonel Hernandez-Aya, Katherine N. Weilbaecher, Kisha D. Piggott, P. Kumar Rao, Carla M. Yuede, Alethia J. Dixon, Patrick Osei-Owusu, John A. Cooper, Kendall J. Blumer
Summary: UM can be targeted by FR900359 or YM-254890, inhibitors of the Gq/11/14 subfamily of G proteins. FR inhibited all oncogenic Gq/11 mutants in UM and induced melanocytic redifferentiation of UM tumor cells. Systemic administration of FR strongly inhibited the growth of UM tumors in mouse xenograft models, suggesting a potential therapeutic approach for UM.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Oncology
E. H. Cho, J. -Y. Kim, S. -A. Im, K. H. Jung, J. Sohn, K. S. Lee, Y. S. Chae, K. H. Lee, J. H. Kim, J. -H. Jang, J. H. Ahn, M. S. Park, S. -Y. Lee, Y. H. Park
Summary: In this study, genetic polymorphisms of rs1044457 in CMPK1, rs693955 in SLC29A1, and rs2807312 in TLE4 were found to be significantly associated with 6-month progression-free survival (PFS) rate and/or PFS duration in breast cancer patients. Further studies with a larger sample size and expression study would be helpful to validate the association of genetic polymorphisms and the clinical efficacy of gemcitabine.
Article
Cardiac & Cardiovascular Systems
Ivana Purnama Dewi, Louisa Fadjri Kusuma Wardhani, Irma Maghfirah, Kristin Purnama Dewi, Agus Subagjo, Mochamad Yusuf Alsagaff, Johanes Nugroho
Summary: This study analyzed the association between single nucleotide gene polymorphism (SNP) guanine nucleotide-binding protein beta-3 subunit (GNB3) C825T and insertion/deletion (I/D) of the angiotensin-converting enzyme (ACE) gene with the incidence of peripartum cardiomyopathy (PPCM). The results showed that the TT genotype of GNB3 and the DD genotype of ACE increased the risk of PPCM, and ACE levels were significantly higher in the DD genotype group.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Chemistry, Multidisciplinary
Junwei Tang, Wen Peng, Jiangzhou Ji, Chaofan Peng, Tuo Wang, Peng Yang, Ji'ou Gu, Yifei Feng, Kangpeng Jin, Xiaowei Wang, Yueming Sun
Summary: This study reveals that upregulation of GPR176 in colorectal cancer is positively correlated with tumor proliferation and poor overall survival. GPR176 promotes colorectal cancer oncogenesis and development by activating the cAMP/PKA signaling pathway and modulating mitophagy. Mechanistically, GPR176 recruits the GNAS protein intracellularly via its transmembrane helix 3-intracellular loop 2 domain to transduce and amplify extracellular signals from GPR176. The GPR176/GNAS complex inhibits mitophagy via the cAMP/PKA/BNIP3L axis, thereby promoting the tumorigenesis and progression of colorectal cancer.
Article
Rheumatology
Katriona Goldmann, Athina Spiliopoulou, Andrii Iakovliev, Darren Plant, Nisha Nair, Cankut Cubuk, Paul McKeigue, Michael R. Barnes, Anne Barton, Costantino Pitzalis, Myles J. Lewis
Summary: This study conducted expression quantitative trait locus (eQTL) analysis using RNA-Sequencing to explore the link between genetic variants and gene expression in rheumatoid arthritis (RA) patients. The analysis identified 898 eQTL genes in synovium and blood, with 232 genes in common. A specific eQTL at HLA-DPB2 was found to be associated with clinical severity and the lympho-myeloid pathotype.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Review
Obstetrics & Gynecology
Jiajia Song, Xianping Huang, Panpan Zhou, Ting Xu, Zhangye Xu
Summary: This study found that maternal GNB3 C825T polymorphism may be a risk factor for pre-eclampsia.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)