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
Cell Biology
Liwen Zhang, Lu Han, Yubei Huang, Ziwei Feng, Xin Wang, Haixin Li, Fangfang Song, Luyang Liu, Junxian Li, Hong Zheng, Peishan Wang, Fengju Song, Kexin Chen
Summary: The study revealed an association between SNPs within microRNA binding sites and breast cancer prognosis, with the LRRK2 rs10878441 CC genotype being specifically linked to poor prognosis. This genotype may serve as a potential prognostic biomarker for breast cancer. Stratified analyses demonstrated the relevance of rs10878441 in grade II patients and lymph node-negative patients in terms of breast cancer prognosis.
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
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
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.
Article
Medicine, Research & Experimental
Xiang-Rui Qiao, Tao Zheng, Yifei Xie, Xinyi Yao, Zuyi Yuan, Yue Wu, Dong Zhou, Tao Chen
Summary: Polymorphisms in miR-146a and miR-34b are associated with the development and prognosis of ACS. The rs2910164 variant of miR-146a is closely related to ACS risk and may activate the NF-kappa B inflammatory pathway through oxidized miR-146a mispairing with IKBA 3'UTR.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Medicine, General & Internal
Wanwan Chen, Yanmei Liu, Hongyi Pan, Jie Jiang, Huaqing Xiang, Linlin Peng
Summary: The T allele at the rs2614 locus of the PTX3 gene may be a high risk factor for EHT, while the CCG haplotype may have a protective effect. Plasma levels of PTX3 and hsa-miR-4766-5p in patients with EHT have high diagnostic accuracy for EHT.
Article
Genetics & Heredity
Ze Li, Hui Gao, Yang Liu, Hongjiao Wu, Weiyuan Li, Yunce Xing, Zhi Zhang, Xuemei Zhang
Summary: The study identified that the variant genotypes of TLR4 rs7869402 and TLR4 rs7873784 reduced the risk of gastric cancer, especially among females, older subjects, non-smokers, and non-drinkers. No significant correlations were found between the other four SNPs and gastric carcinoma risk.
Article
Biochemistry & Molecular Biology
Hui-Jeong An, Sung-Hwan Cho, Han-Sung Park, Ji-Hyang Kim, Young-Ran Kim, Woo-Sik Lee, Jung-Ryeol Lee, Seong-Soo Joo, Eun-Hee Ahn, Nam-Keun Kim
Summary: This study investigated the genetic association between recurrent pregnancy loss (RPL) and microRNA (miRNA) polymorphisms in miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G in Korean women. The study identified specific genotypes of miR-10a and miR-499 that are associated with increased RPL risk.
Article
Multidisciplinary Sciences
Siyue Wang, Wenqian Hu, Yuning Xie, Hongjiao Wu, Zhenxian Jia, Zhi Zhang, Xuemei Zhang
Summary: The study found that C7 polymorphisms are associated with an increased risk of gastric cancer, and C7 plays an important role in the development of gastric 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
Oncology
Miguel Cordova-Delgado, Maria Loreto Bravo, Elisa Cumsille, Charlotte N. Hill, Matias Munoz-Medel, Mauricio P. Pinto, Ignacio N. Retamal, Maria A. Lavanderos, Juan Francisco Miquel, Maria Rodriguez-Fernandez, Yuwei Liao, Zhiguang Li, Alejandro H. Corvalan, Ricardo Armisen, Marcelo Garrido, Luis A. Quinones, Gareth Owen
Summary: The study found a high correlation between DPYD SNPs and fluoropyrimidine toxicity in the Latin American population, with significant associations between paired SNPs and toxicity. The multivariate logistic regression model combining multiple factors can accurately predict toxicity, improving treatment prediction accuracy.
Article
Toxicology
Kuan Shen, Kanghui Liu, Yuanhang Wang, Peidong Ni, Jian Xiao, Fan Hao, Xinyi Zhou, Zekuan Xu, Li Yang
Summary: This study found that MSLN plays a cancer-promoting role in gastric cancer. Additionally, rs3764247 and rs3764246 were associated with a reduced risk of gastric cancer. It was also observed that rs3764247 was closely related to T stage, vascular infiltration, and HER2 expression. Furthermore, patients with rs3764247 CC genotype had poorer survival compared to patients with AA + AC genotype.
ARCHIVES OF TOXICOLOGY
(2022)
Article
Genetics & Heredity
Ziqi Jia, Yansong Huang, Jiaqi Liu, Gang Liu, Jiayi Li, Hengyi Xu, Yiwen Jiang, Song Zhang, Yidan Wang, Gang Chen, Guangdong Qiao, Yalun Li
Summary: Through a study on genetic polymorphisms, we found significant associations between breast cancer risk and SNPs rs12493607 (TGFBR2), rs4784227 (CASC16), and rs2046210 (ESR1) in the Chinese female population. Further analysis revealed associations between different subtypes of breast cancer and different SNPs. These findings provide important insights into breast cancer susceptibility and personalized treatment.
Article
Nutrition & Dietetics
Liang Fu, Changzhen Lei, Yingxun Chen, Ruiyun Zhu, Minling Zhuang, Liping Dong, Xianghong Ye, Lushan Zheng, Daojun Gong
Summary: This study investigated the TNF-alpha -1,031 T/C gene polymorphism as an unfavorable predictor of malnutrition in gastric cancer patients. Among the 220 patients with gastric cancer, those carrying the C allele had a 2.5 times higher risk of developing malnutrition. Patients with the CC genotype had a significantly higher risk, while those with the CT genotype also had a higher risk of malnutrition.
FRONTIERS IN NUTRITION
(2023)
Article
Oncology
Jianhua Yin, Xi Chen, Nan Li, Xuewen Han, Wenbin Liu, Rui Pu, Ting Wu, Yibo Ding, Hongwei Zhang, Jun Zhao, Xue Han, Hongyang Wang, Shuqun Cheng, Guangwen Cao
Summary: The study revealed that HBV evolution is more advanced in the sera than in tumors among HBV-positive HCC patients. The complexity of HBV and specific mutations have contrary prognostic effects in sera and tumors.
Article
Food Science & Technology
Hong Duan, Guo-cheng Wang, Ghulam Jilany Khan, Xiao-hui Su, Su-lan Guo, Yan-ming Niu, Wen-Gen Cao, Wen-ting Wang, Ke-feng Zhai
Summary: A total of 17 compounds were identified in Isodon amethystoides (Benth.) Hara (IA) leaves extract, with 14 of them being novel findings. Flavonoid components exhibited better free radical scavenging ability, and a significant correlation was observed between diterpenoid compounds content and flavonoids activity. These results provide an experimental basis for the extraction and separation of antioxidant chemical constituents of IA.
FOOD AND CHEMICAL TOXICOLOGY
(2021)
Article
Medicine, Research & Experimental
Zijian Chen, Zenghong Huang, Yanxin Luo, Qi Zou, Liangliang Bai, Guannan Tang, Xiaolin Wang, Guangwen Cao, Meijin Huang, Jun Xiang, Huichuan Yu
Summary: This study found that the NTRK3 gene promoter was more frequently methylated in CRC, leading to suppressed gene expression. It was confirmed that NTRK3 promoter methylation was associated with survival outcome in CRC and a nomogram predicting survival outcome was developed. Moreover, NTRK3 promoter methylation also predicted survival outcomes in other tumors.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Plant Sciences
Allen G. Xue, Seara Lim, Yuanhong Chen, Gavin Humphreys, Wenguang Cao, Jim Menzies, Christina Cowger, Hongjie Li, Mitra Serajazari
Summary: The virulence structure of Blumeria graminis f. sp. tritici (Bgt) in Ontario was examined, identifying several effective resistance genes against the pathogen. The effectiveness of these genes was stable across different years and origins, suggesting potential for deployment in wheat breeding programs for developing powdery mildew-resistant cultivars.
CANADIAN JOURNAL OF PLANT PATHOLOGY
(2021)
Article
Oncology
Wenbin Liu, Hongxiang Ji, Jun Zhao, Jiahui Song, Shaoling Zheng, Lei Chen, Peng Li, Xiaojie Tan, Yibo Ding, Rui Pu, Jianhua Yin, Xue Han, Guangwen Cao
Summary: APOBEC3-related mutations are associated with biliary tract cancers. The functional polymorphisms of APOBEC3A and APOBEC3B play important roles in the development of cholangiocarcinoma and gallbladder cancer. TNF-alpha regulates the levels of APOBEC3A and APOBEC3B by affecting transcriptional repressors and promoter accessibility.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Rui Pu, Wenbin Liu, Xinyu Zhou, Xi Chen, Xiaomei Hou, Shiliang Cai, Liping Chen, Jianfeng Wu, Fan Yang, Xiaojie Tan, Jianhua Yin, Xin Wang, Guangwen Cao
Summary: The study aimed to explore the mechanism by which hepatitis B virus X mutations increase the occurrence of hepatocellular carcinoma (HCC) and identify potential therapeutic targets. The results showed that M3-HBx and Ct-HBx mutants had a higher HCC incidence compared to wild-type HBx. M3-HBx had a stronger capacity to upregulate inflammatory cytokines and promote cell proliferation in HepG2 and HeLa cells. Plasminogen activator inhibitor-1 (PAI1) and cell division cycle 20 (CDC20) were identified as novel effectors, and their expression was significantly upregulated by M3-HBx and Ct-HBx in both cells and mouse livers. Silencing PAI1 attenuated the effects of M3-HBx and Ct-HBx on cell growth. PAI1 could be a promising prognostic biomarker and therapeutic target in HBV-related HCC.
FRONTIERS IN ONCOLOGY
(2022)
Article
Environmental Sciences
Ruihua Wang, Qiaoyuan Fei, Shan Liu, Xueqiong Weng, Huanzhu Liang, Yingying Wu, Lin Wen, Guang Hao, Guangwen Cao, Chunxia Jing
Summary: This study assessed the effects of bisphenol F (BPF) and bisphenol S (BPS) as substitutes for bisphenol A (BPA) in the US population. The results suggest that BPS may increase the risk of cardiovascular disease (CVD) and coronary heart disease, especially in the 50-80 age group.
ENVIRONMENTAL SCIENCES EUROPE
(2022)
Article
Oncology
Donghong Liu, Wenbin Liu, Xi Chen, Jianhua Yin, Longteng Ma, Mei Liu, Xinyu Zhou, Linfeng Xian, Peng Li, Xiaojie Tan, Jun Zhao, Yong Liao, Guangwen Cao
Summary: In this study, circKCNN2 was identified as a potential predictive biomarker and therapeutic agent for the recurrence of hepatocellular carcinoma (HCC). Through multi-omics analyses, circKCNN2 was found to suppress the recurrence of HCC via the miR-520c-3p/MBD2 axis. These findings suggest that circKCNN2 may hold promise for predicting HCC recurrence and improving therapeutic outcomes.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Article
Agronomy
Xiaojie Jin, Dawn Chi, Danielle Wolfe, Colin Hiebert, Tom Fetch, Wenguang Cao, Allen Xue, Gavin Humphreys, George Fedak
Summary: By using marker-assisted selection and doubled haploid technology, five stem rust resistance genes were stacked to produce 13 desired combinations. The wheat cultivar Hoffman was improved by stacking Sr35 and Sr36. The pyramided lines with three or four genes and improved Hoffman with Sr35+Sr36 were all immune to TTKSK.
CANADIAN JOURNAL OF PLANT SCIENCE
(2022)
Article
Materials Science, Multidisciplinary
Yuwei Liu, Tianzhen Gu, Zhenyao Wang, Gongwang Cao, Chuang Wang
Summary: The corrosion behavior of zinc exposed in the coastal zone of the Nansha Islands for nearly 3 years was studied. The results show that the corrosion products do not provide significant protection to the substrate. The kinetics of the corrosion process is linear, and the morphology of the corrosion products differs on the skyward and field-ward sides. The degree of corrosion also varies at different exposure periods.
CORROSION ENGINEERING SCIENCE AND TECHNOLOGY
(2022)
Article
Multidisciplinary Sciences
Ting Shen, Ting Ni, Jiaxuan Chen, Haitao Chen, Xiaopin Ma, Guangwen Cao, Tianzhi Wu, Haisheng Xie, Bin Zhou, Gang Wei, Hexige Saiyin, Suqin Shen, Peng Yu, Qianyi Xiao, Hui Liu, Yuzheng Gao, Xidai Long, Jianhua Yin, Yanfang Guo, Jiaxue Wu, Gong-Hong Wei, Jinlin Hou, De-Ke Jiang
Summary: Most cancer-causing variations are found in gene regulatory elements, such as enhancers. However, enhancer variants predisposing to hepatocellular carcinoma (HCC) have not been reported before. In this study, a genome-wide survey was conducted in 11,958 individuals to identify HCC-susceptible enhancer variants, and rs73613962 within the intronic region of PRMT7 was discovered as a susceptibility locus for HCC. The functional activity of this region as an enhancer was confirmed through experimental assays. The upregulation of PRMT7, which is regulated by this enhancer region through the binding of the transcription factor HNF4A, contributes to HCC-related phenotypes both in vitro and in vivo. This finding sheds light on the pathogenesis of HCC and may provide new opportunities for its prevention and treatment.
NATURE COMMUNICATIONS
(2022)
Review
Genetics & Heredity
Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce Taylor, Yuan Zhou
Summary: Advancements in genome sequencing technologies have opened up new possibilities in understanding neurologic diseases and improving diagnostic and management strategies. Whole-genome sequencing (WGS) is a valuable tool in discovering structural variants and improving genetic tests in clinical settings. Ongoing research in structural variations and mutational constraints can contribute to improved variant interpretation and therapeutic development.
NEUROLOGY-GENETICS
(2022)
Article
Oncology
Wenbin Liu, Shiliang Cai, Rui Pu, Zixiong Li, Donghong Liu, Xinyu Zhou, Jianhua Yin, Xi Chen, Liping Chen, Jianfeng Wu, Xiaojie Tan, Xin Wang, Guangwen Cao
Summary: Mutations in the preS region of hepatitis B virus (HBV) are associated with an increased risk of hepatocellular carcinoma (HCC). In this study, several specific preS mutations were found to significantly increase the risk of HCC by promoting inflammation and altering gene expression in inflammation- and metabolism-related pathways. These findings highlight the importance of monitoring these mutations for HCC prevention.
Article
Oncology
Jiansheng Lin, Hongwei Zhang, Hongping Yu, Xinyu Bi, Weilu Zhang, Jianhua Yin, Pei Zhao, Xiumei Liang, Chunfeng Qu, Minjie Wang, Ming Hu, Kun Liu, Yuting Wang, Zihan Zhou, Junqi Wang, Xiaojie Tan, Wenbin Liu, Zhongjun Shao, Jianqiang Cai, Weizhong Tang, Guangwen Cao
Summary: This study investigated the contribution of HBV and HCV to primary liver cancer and their association with cancer aggressiveness in China. The results showed that HBV accounted for 84.4% of HCC cases in China and was associated with clinical characteristics of the tumor. Early screening and preoperative prognosis prediction models are important in clinical decision-making.
FRONTIERS IN ONCOLOGY
(2022)
Article
Dermatology
Gang Chen, Mengwei Wang, Peiguang Wang, Bo Liang
Summary: We report a Chinese patient with Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome, presenting with the classic triad of follicular ichthyosis, alopecia, and photophobia, along with painful palmoplantar keratoderma, recurrent infections, periorificial keratotic plaques, nail dystrophy, and pachyonychia. Whole-exome sequencing identified an intronic variant (NM_015884.3: exon7:c.970+5G>A) in the MBTPS2 gene, which was confirmed to segregate with phenotype in the family. cDNA sequencing showed that the variant introduced a new splice donor site, leading to partial skipping of exon 7 (r.951_970del). An in vitro mini-gene assay demonstrated abnormal splicing of exon 7. This study highlights the importance of validation assays in determining the pathogenicity of intronic variants in MBTPS2.
JOURNAL OF DERMATOLOGY
(2023)
