Review
Endocrinology & Metabolism
Yuheng Hu, Zeng Ye, Fei Wang, Yi Qin, Xiaowu Xu, Xianjun Yu, Shunrong Ji
Summary: SSTRs have significant clinical significance in pNETs, serving as important targets for diagnosis and treatment, but further research is needed.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Review
Medicine, General & Internal
Shushu Sun, Xiaotian Li, Bingkun Qu, Kunming Xie, Jinlei Li, Junjie Miao
Summary: A meta-analysis revealed a potential association between the vascular endothelial growth factor receptor 2 rs2305948 gene polymorphism and glioma susceptibility in the Asian population, while the association in non-Asian populations remains unclear.
Article
Genetics & Heredity
Byung Woo Yoon, Hyun-Tae Shin, Je Hyun Seo
Summary: This study provides insights into the genetic differences in prostate cancer incidence among different ethnicities, using data on single-nucleotide polymorphisms associated with prostate cancer. The study reveals that the polygenic risk score, as well as certain genes such as AR, CDKN1B, and MAD1L1, are associated with ethnic differences in prostate cancer.
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
Immunology
Yan Li, Wei Li, Li Huang, Huijia Li, Peipeng He, Chao Xue
Summary: This study investigated the association between microscopic polyangiitis and the single nucleotide polymorphism rs807185 in autophagy-associated gene 4A (ATG4A) in the Chinese population. Using multiplex polymerase chain reaction and high-throughput sequencing, it was found that the control group had a higher frequency of the A allele of rs807185 compared to the microscopic polyangiitis group, suggesting that the A allele of rs807185 may have a protective effect against microscopic polyangiitis in the Chinese population. However, the molecular mechanisms remain unclear.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Medicine, Research & Experimental
Milena Sciskalska, Halina Milnerowicz
Summary: This study investigated the impact of SNPs in GPX genes on GPx activity in acute pancreatitis patients. The results showed that AP patients had decreased GPx activity, and smoking and genotypes also play a role in this decrease.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Immunology
Natalia Redondo, Isabel Rodriguez-Goncer, Patricia Parra, Tamara Ruiz-Merlo, Francisco Lopez-Medrano, Esther Gonzalez, Natalia Polanco, Hernando Trujillo, Ana Hernandez, Rafael San Juan, Amado Andres, Jose Maria Aguado, Mario Fernandez-Ruiz
Summary: The study found that single nucleotide polymorphisms (SNPs) within the TLR3 and TLR9 genes are associated with the risk of CMV infection after kidney transplantation. Patients with the TT genotype of TLR3 (rs3775291) had a higher infection-free survival rate, while patients with the TC/CC genotype of TLR9 (rs352139) had a lower infection-free survival rate. Furthermore, carriers of the TC/CC genotype of TLR9 (rs352139) showed lower counts of CMV-specific interferon-gamma-producing CD4+ T-cells.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Safiah Almushawwah, Mikhlid H. Almutairi, Abdullah M. Alamri, Abdelhabib Semlali
Summary: This study explored the association between four single nucleotide polymorphisms (SNPs) in XPA and XPC genes and cigarette smoking (CS) in the Saudi population. The results showed that SNP rs3176751 in XPA gene had a high-risk association with CS-induced diseases, while rs1800975 had a statistically significant low-risk association. In the XPC gene, SNP rs2607775 had a significant low-risk association, while rs2228000 and rs1870134 showed no association with CS.
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Urology & Nephrology
Wei Zhu, Xin Zhang, Zhen Zhou, Yin Sun, Guangyuan Zhang, Xiaolu Duan, Zhicong Huang, Guoyao Ai, Yang Liu, Zhijian Zhao, Wen Zhong, Guohua Zeng
Summary: This study found a significant association between single nucleotide polymorphisms (SNPs) and kidney stone recurrence, and SNPs can provide prognostic value in addition to traditional clinical risk factors. A predictive model combining clinical and genetic variables shows potential as an assessment tool for evaluating the recurrence risk of kidney stones.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Infectious Diseases
Meng-Rui Lee, Yen-Lin Chen, Chang-Wei Wu, Lun-Che Chen, Lih-Yu Chang, Jung-Yueh Chen, Yu-Tsung Huang, Jann-Yuan Wang, Jin-Yuan Shih, Chong-Jen Yu
Summary: This study found that single nucleotide polymorphisms (SNPs) in Toll-like receptor 1 (TLR1), Toll-like receptor 2 (TLR2), and matrix metalloproteinase 8 (MMP8) were associated with the risk of tuberculosis (TB) infection and disease. Haplotypes and a polygenic risk score (PRS) could be used to predict TB disease status.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Medicine, Research & Experimental
Milena Sciskalska, Halina Milnerowicz
Summary: This study evaluated the impact of SNP rs1695 in the GSTP1 gene on GST and GST-pi activity, as well as the concentrations of glutathione and malonyldialdehyde. The results confirmed the important role of GST-pi in oxidative stress.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Review
Genetics & Heredity
Iman Akhlaghipour, Amir Reza Bina, Mohammad Reza Mogharrabi, Ali Fanoodi, Amir Reza Ebrahimian, Soroush Khojasteh Kaffash, Atefeh Babazadeh Baghan, Mohammad Erfan Khorashadizadeh, Negin Taghehchian, Meysam Moghbeli
Summary: This review assessed the molecular pathology of diabetes in the Middle East population and explored the feasibility of introducing a SNP-based diagnostic panel for diabetes screening. With a population of 370 million, this study could serve as a reliable model for promoting the use of such diagnostic panels in other populations worldwide.
Article
Genetics & Heredity
Moumita Mukherjee, Satyajit Ghosh, Srikanta Goswami
Summary: This study explores the potential effects of SNPs on miRNA-target mRNA interactions in PDAC. Through rigorous analytical methods, common and rare variants were identified that may interfere with miRNA-mediated gene regulation in the disease. The results provide insights into the role of genetic variations in modulating miRNA function in PDAC.