Article
Oncology
Ye Lu, Manuel Gentiluomo, Angelica Macauda, Domenica Gioffreda, Maria Gazouli, Maria C. Petrone, Dezso Kelemen, Laura Ginocchi, Luca Morelli, Konstantinos Papiris, William Greenhalf, Jakob R. Izbicki, Vytautas Kiudelis, Beatrice Mohelnikova-Duchonova, Bas Bueno-de-Mesquita, Pavel Vodicka, Hermann Brenner, Markus K. Diener, Raffaele Pezzilli, Audrius Ivanauskas, Roberto Salvia, Andrea Szentesi, Mateus Nobrega Aoki, Balazs C. Nemeth, Cosimo Sperti, Krzysztof Jamroziak, Roger Chammas, Martin Oliverius, Livia Archibugi, Stefano Ermini, Janos Novak, Juozas Kupcinskas, Ondrej Strouhal, Pavel Soucek, Giulia M. Cavestro, Anna C. Milanetto, Giuseppe Vanella, John P. Neoptolemos, George E. Theodoropoulos, Hanneke W. M. van Laarhoven, Andrea Mambrini, Stefania Moz, Zdenek Kala, Martin Lovecek, Daniela Basso, Faik G. Uzunoglu, Thilo Hackert, Sabrina G. G. Testoni, Viktor Hlavac, Angelo Andriulli, Maurizio Lucchesi, Francesca Tavano, Silvia Carrara, Peter Hegyi, Paolo G. Arcidiacono, Olivier R. Busch, Rita T. Lawlor, Marta Puzzono, Ugo Boggi, Feng Guo, Ewa Malecka-Panas, Gabriele Capurso, Stefano Landi, Renata Talar-Wojnarowska, Oliver Strobel, Xin Gao, Yogesh Vashist, Daniele Campa, Federico Canzian
Summary: In this study, a re-analysis of pancreatic cancer GWAS data identified six SNPs associated with pancreatic cancer risk under a recessive genetic model. The results suggest the importance of considering non-additive genetic models in GWAS analysis and provide potential candidates for further meta-analysis to improve polygenic risk scores for pancreatic cancer. Additional bioinformatic analysis revealed a possible relationship between specific SNPs and genes known to be involved in pancreatic biology.
FRONTIERS IN ONCOLOGY
(2021)
Article
Toxicology
Xiaowei Wang, Dan Guan, Dafei Wang, Hanting Liu, Yanling Wu, Weida Gong, Mulong Du, Haiyan Chu, Jing Qian, Zhengdong Zhang
Summary: The study revealed the crucial regulatory role of m(6)A modification genes in gastric cancer (GC) development, with the SNP rs9906944 C > T in IGF2BP1 significantly associated with a decreased risk of GC. Higher expression of IGF2BP1 was linked to poorer overall survival in GC patients.
ARCHIVES OF TOXICOLOGY
(2021)
Article
Neurosciences
Todd Lencz, Jin Yu, Raiyan Rashid Khan, Erin Flaherty, Shai Carmi, Max Lam, Danny Ben-Avraham, Nir Barzilai, Susan Bressman, Ariel Darvasi, Judy H. Cho, Lorraine N. Clark, Zeynep H. Gumus, Joseph Vijai, Robert J. Klein, Steven Lipkin, Kenneth Offit, Harry Ostrer, Laurie J. Ozelius, Inga Peter, Anil K. Malhotra, Tom Maniatis, Gil Atzmon, Itsik Pe'er
Summary: Identification of rare variants associated with schizophrenia is challenging due to genetic heterogeneity, but in the Ashkenazi Jewish population, cases were found to have a higher frequency of novel MisLoF URVs compared to controls. The burden of MisLoF URVs was inversely correlated with polygenic risk scores in cases. The cadherin gene set was associated with schizophrenia, with a recurrent case mutation in PCDHA3 being linked to cytoplasmic aggregation formation.
Article
Biochemistry & Molecular Biology
Jose Manuel Sanchez-Maldonado, Antonio Jose Cabrera-Serrano, Subhayan Chattopadhyay, Daniele Campa, Maria del Pilar Garrido, Angelica Macauda, Rob Ter Horst, Andres Jerez, Mihai G. G. Netea, Yang Li, Kari Hemminki, Federico Canzian, Asta Foersti, Juan Sainz
Summary: This study found that obesity-related genetic variants do not impact the risk of developing MM, based on genomic association studies conducted in German and Spanish populations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Antonio Jose Cabrera-Serrano, Jose Manuel Sanchez-Maldonado, Rob ter Horst, Angelica Macauda, Paloma Garcia-Martin, Yolanda Benavente, Stefano Landi, Alyssa Clay-Gilmour, Yasmeen Niazi, Blanca Espinet, Juan Jose Rodriguez-Sevilla, Eva Maria Perez, Rossana Maffei, Gonzalo Blanco, Matteo Giaccherini, James R. Cerhan, Roberto Marasca, Miguel Angel Lopez-Nevot, Tzu Chen-Liang, Hauke Thomsen, Irene Gamez, Daniele Campa, Victor Moreno, Silvia de Sanjose, Rafael Marcos-Gragera, Maria Garcia-Alvarez, Trinidad Dierssen-Sotos, Andres Jerez, Aleksandra Butrym, Aaron D. Norman, Mario Luppi, Susan L. Slager, Kari Hemminki, Yang Li, Sonja I. Berndt, Delphine Casabonne, Miguel Alcoceba, Anna Puiggros, Mihai G. Netea, Asta Foersti, Federico Canzian, Juan Sainz
Summary: Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. However, a study found that the GWAS-identified risk variants for CLL do not significantly impact overall survival and disease progression in CLL patients. The polygenic risk scores (PRSs) built with these risk variants also have limited accuracy in predicting patient survival and disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Pathology
Jing Zhou, Congcong Chen, Xiaoyu Zhao, Tao Jiang, Yue Jiang, Juncheng Dai, Jiaping Chen
Summary: The study revealed significant associations of the SNPs rs7279204 in the PCNT gene and rs77922978 in the CEP295 gene with breast cancer susceptibility in the Han Chinese population. These two variants may have different effects in different groups of women and could potentially regulate cancer susceptibility genes.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Article
Genetics & Heredity
Cierla McGuire Sams, Kasey Shepp, Jada Pugh, Madison R. Bishop, Nancy D. Merner
Summary: The study identified variants in HCAR genes that may be associated with breast cancer risk, highlighting the importance of understanding their role in cancer development and treatment strategies. Further research is needed to validate these findings and explore the functional consequences of these potentially pathogenic variants.
BMC MEDICAL GENOMICS
(2021)
Article
Multidisciplinary Sciences
Felipe Fidalgo, Giovana Tardin Torrezan, Bianca Costa Soares de Sa, Bruna Duraes de Figueiredo Barros, Luciana Facure Moredo, Renan Valieris, Sandro J. de Souza, Joao Pereira Duprat, Ana Cristina Victorino Krepischi, Dirce Maria Carraro
Summary: This study identified rare genomic variants associated with cutaneous melanoma susceptibility in melanoma-prone families. Several potential candidate genes were underscored, both previously described and new putative candidates. These findings provide a novel set of potential candidate genes for further investigation.
Article
Immunology
Sarra E. Jamieson, Michaela Fakiola, Dave Tang, Elizabeth Scaman, Genevieve Syn, Richard W. Francis, Harvey L. Coates, Denise Anderson, Timo Lassmann, Heather J. Cordell, Jenefer M. Blackwell
Summary: This study identified plausible genetic risk loci for severe otitis media in Aboriginal Australian children, including NR3C1 and NREP genes. Analysis also showed associations with variants influencing protein coding and pathways related to abnormal hair cell morphology, ear issues, integrin interactions, and cell projection phenotypes.
CLINICAL INFECTIOUS DISEASES
(2021)
Article
Biochemistry & Molecular Biology
Yafang Li, Xiangjun Xiao, Jianrong Li, Jinyoung Byun, Chao Cheng, Yohan Bosse, James McKay, Demetrios Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Stig E. Bojesen, Maria T. Landi, Mattias Johansson, Angela Risch, Heike Bickeboeller, H-Erich Wichmann, David C. Christiani, Gad Rennert, Susanne Arnold, Gary Goodman, John K. Field, Michael P. A. Davies, Sanjay S. Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline S. Andrew, Lambertus A. Kiemeney, Hongbing Shen, Ryan Sun, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Dawn M. Teare, Yun-Chul Hong, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Ann G. Schwartz, Ivan Gorlov, Kristen Purrington, Ping Yang, Yanhong Liu, Younghun Han, Joan E. Bailey-Wilson, Susan M. Pinney, Diptasri Mandal, James C. Willey, Colette Gaba, Paul Brennan, Christopher Amos
Summary: Sex differences in lung cancer risk have not been well studied despite the success in lung cancer association studies. By analyzing genotypes from a lung cancer cohort, we identified three low-frequency variants with differential risk effects in men and women. Further analysis suggested that one of the variants affects lung cancer risk through regulation of CXADR gene expression.
HUMAN MOLECULAR GENETICS
(2022)
Article
Oncology
Wei Guan, Nan Yang, Xianglin Zuo, Xuchun Wang, Pingping Cao, Ying Chu, Zhongyong Qin, He Cheng, Xiao Shi, Tingzheng Ma, Zekuan Xu, Yujie Sun
Summary: This study identified two causal variations in the 1q22 region using tag-SNP rs2075570 as a genetic marker. These variations may affect the occurrence and progression of gastric cancer by reinforcing the expression of the 1q22-Enh enhancer-regulated UBAP2L target gene.
MOLECULAR CANCER RESEARCH
(2021)
Article
Toxicology
Yujuan Zhang, Guoquan Tao, Ping Liu, Kai Lu, Zhichao Han, Hanting Liu, Mulong Du, Meilin Wang, Haiyan Chu, Zhengdong Zhang
Summary: The study revealed that genetic variants in NuRD complex subunits encoding genes are associated with gastric cancer risk, with an increase in the number of favorable alleles of specific SNPs linked to lower risk. Specific SNPs in GATAD2A were significantly correlated with mRNA expression levels, and patients with higher expression levels of GATAD2A or CHD4 mRNA had more advantageous overall survival.
ARCHIVES OF TOXICOLOGY
(2022)
Article
Microbiology
Anthony Mannion, JoAnn Dzink-Fox, Zeli Shen, M. Blanca Piazuelo, Keith T. Wilson, Pelayo Correa, Richard M. Peek, M. Constanza Camargo, James G. Fox
Summary: Colombia in South America has a high burden of Helicobacter pylori infection and gastric cancer. Multidrug antibiotic regimens can effectively eradicate H. pylori, but treatment efficacy is threatened by the emergence of antibiotic-resistant strains. This study found that H. pylori isolates from Colombia exhibit multidrug antibiotic resistance.
JOURNAL OF CLINICAL MICROBIOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Jiao Guo, Yongda Liu, Ping Zhao
Summary: The study identified three lncRNAs and two miRNAs related to the pathogenesis and prognosis of gastric cancer, along with clinical factors. The results suggest that these RNA molecules and clinical features may provide a starting point for research on prognostic markers for gastric cancer.
BIOMED RESEARCH INTERNATIONAL
(2021)
Article
Genetics & Heredity
Chunyu Liu, Ying Shen, Shuyan Tang, Jiaxiong Wang, Yiling Zhou, Shixiong Tian, Huan Wu, Jiangshan Cong, Xiaojin He, Li Jin, Yunxia Cao, Yihong Yang, Feng Zhang
Summary: In this study, we investigated a group of Han Chinese men with asthenoteratozoospermia, a common type of male infertility. Through whole-exome sequencing, we identified AKAP3 as a novel gene associated with multiple morphological abnormalities of the sperm flagella (MMAF). Two different deleterious variants of AKAP3 were found in unrelated MMAF-affected men, and subsequent experiments confirmed the impact of these variants on AKAP3 expression in spermatozoa. Interestingly, the clinical outcomes after intracytoplasmic sperm injection (ICSI) were different between these two cases, suggesting that AKAP3 dosage may influence the prognosis of ICSI treatment.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Yingzhe Wang, Yanfeng Jiang, Wanqing Wu, Kelin Xu, Qianhua Zhao, Ziyi Tan, Xiaoniu Liang, Min Fan, Zhenxu Xiao, Li Zheng, Saineng Ding, Qiang Dong, Zhen Hong, Li Jin, Xingdong Chen, Ding Ding, Mei Cui
Summary: The study found that older adults with higher educational attainment showed slower cognitive decline. Education is especially important for maintaining cognitive health in disadvantaged living environments.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemistry & Molecular Biology
Yimin Wang, Yunchao Ling, Jiao Gong, Xiaohan Zhao, Hanwen Zhou, Bo Xie, Haiyi Lou, Xinhao Zhuang, Li Jin, Shaohua Fan, Guoqing Zhang, Shuhua Xu
Summary: PGG.SV is a practical platform that provides large-scale structural variation data, including 1030 long-read sequencing genomes representing 177 global populations. The database offers high-quality SVs with precise genomic locations, estimates of SV prevalence in different geographical populations, informative annotations of related genes, and an analysis platform and visualization tools for association studies.
NUCLEIC ACIDS RESEARCH
(2023)
Letter
Plant Sciences
Xiao-Min Yang, Hai-Liang Meng, Jian-Lin Zhang, Yao Yu, Edward Allen, Zi-Yang Xia, Kong-Yang Zhu, Pan-Xin Du, Xiao-Ying Ren, Jian-Xue Xiong, Xiao-Yu Lu, Yi Ding, Sheng Han, Wei-Peng Liu, Li Jin, Chuan-Chao Wang, Shao-Qing Wen
JOURNAL OF SYSTEMATICS AND EVOLUTION
(2023)
Article
Biochemistry & Molecular Biology
Hanni Ke, Shuyan Tang, Ting Guo, Dong Hou, Xue Jiao, Shan Li, Wei Luo, Bingying Xu, Shidou Zhao, Guangyu Li, Xiaoxi Zhang, Shuhua Xu, Lingbo Wang, Yanhua Wu, Jiucun Wang, Feng Zhang, Yingying Qin, Li Jin, Zi-Jiang Chen
Summary: Whole-exome sequencing in a cohort of 1,030 patients with POI identified new likely pathogenic variants and revealed different genetic architectures between primary and secondary amenorrhea. This study expands our understanding of the genetic landscape underlying POI and provides insights that have the potential to improve diagnostic genetic screenings.
Article
Oncology
Huangbo Yuan, Tao Qing, Sibo Zhu, Xiaorong Yang, Weicheng Wu, Kelin Xu, Hui Chen, Yanfeng Jiang, Chengkai Zhu, Ziyu Yuan, Tiejun Zhang, Li Jin, Chen Suo, Ming Lu, Xingdong Chen, Weimin Ye
Summary: Defects in DNA damage repair pathways can lead to genomic instability and oncogenesis. DDR alterations in esophageal squamous cell carcinoma (ESCC) affect mutational processes and tumor immune microenvironment.
Letter
Medicine, General & Internal
Linqing Deng, Ruixi Hua, Zhengtao Zhang, Jinhong Zhu, Jiao Zhang, Jiwen Cheng, Suhong Li, Haixia Zhou, Guochang Liu, Jing He, Wen Fu
CHINESE MEDICAL JOURNAL
(2023)
Article
Chemistry, Applied
Junyu Luo, Qili Qian, Wenxin Zheng, Ieva Gripkauskaite, Sijie Wu, Min Zhang, Jinxi Li, Bingfei Fu, Ranjit Bhogal, Peter Murray, Matthew Rowson, Bin Li, Xiangyang Xue, Xuelan Gu, Yajun Yang, Li Jin, David Andrew Gunn, Sijia Wang
Summary: This study investigated the extent to which scalp hair parameters change with age in Chinese men and women. The number of hairs per follicular unit was found to have a negative correlation with age in both men and women. Men had a greater number of hairs and follicular units than women on average, but experienced a greater decrease in the number of hairs per follicular unit with age, particularly in multi-hair follicular units. Hair loss was not random across follicular units, and a higher number of hairs per follicular unit increased the risk of hair loss. The results suggest that the presence of multi-hair follicular units on the scalp contributes to the greater susceptibility of scalp hair to hair loss compared to other body sites.
INTERNATIONAL JOURNAL OF COSMETIC SCIENCE
(2023)
Editorial Material
Multidisciplinary Sciences
Yi Li, Meng Hao, Zixin Hu, Yanyun Ma, Kun Wang, Xiaoyu Liu, Xianhong Yin, Menghan Zhang, Yi Wang, Meng Liang, Yuan Guo, Lei Bao, Shixuan Zhang, Shiguan Le, Chenyuan Wu, Dayan Sun, Yang Wei, Fei Wu, Rui Zhang, Lingxian Zhu, Hui Zhang, Shuai Jiang, Xingdong Chen, Xiaofeng Wang, Yao Zhang, Longli Kang, Wenyuan Duan, Bin Qiao, Jiucun Wang, Li Jin
NATIONAL SCIENCE REVIEW
(2023)
Article
Biochemistry & Molecular Biology
Susu Jiang, Xiuhong Sun, Xinxin Zhang, Chunlei Zhou, Haiyan Wu, Jing He, Wenhan Yang
Summary: This study reveals that the MIR938 rs2505901 T>C polymorphism may be a potential risk factor for neuroblastoma in Chinese children.
BIOSCIENCE REPORTS
(2023)
Article
Oncology
Linqing Deng, Rui-Xi Hua, Changmi Deng, Jinhong Zhu, Zhengtao Zhang, Jiwen Cheng, Jiao Zhang, Haixia Zhou, Suhong Li, Jichen Ruan, Guochang Liu, Jing He, Wen Fu
Summary: This study found that the rs6586250 C > T polymorphism of the WDR4 gene is significantly associated with the susceptibility to Wilms tumor. The findings suggest that this gene polymorphism may be involved in the genetic mechanism of this tumor.
Article
Medicine, Research & Experimental
Wenjing Wang, Yoichi Miyamoto, Biaobang Chen, Juanzi Shi, Feiyang Diao, Wei Zheng, Qun Li, Lan Yu, Lin Li, Yao Xu, Ling Wu, Xiaoyan Mao, Jing Fu, Bin Li, Zheng Yan, Rong Shi, Xia Xue, Jian Mu, Zhihua Zhang, Tianyu Wu, Lin Zhao, Weijie Wang, Zhou Zhou, Jie Dong, Qiaoli Li, Li Jin, Lin He, Xiaoxi Sun, Ge Lin, Yanping Kuang, Lei Wang, Qing Sang
Summary: By analyzing whole-exome sequencing data of 606 women with PREMBA, researchers have identified a candidate gene KPNA7, which may contribute to the development of PREMBA. The study further revealed that KPNA7 mutations reduce protein levels, impair its binding capacity to substrate RSL1D1, and affect nuclear transport activity. Furthermore, the study found that mouse KPNA2 plays a critical role in embryonic development and its deficiency leads to embryo arrest, similar to human PREMBA cases. These findings provide a mechanistic understanding of PREMBA and a diagnostic marker for PREMBA patients.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Oncology
Qian Guan, Huiran Lin, Wenfeng Hua, Lei Lin, Jiabin Liu, Linqing Deng, Jiao Zhang, Jiwen Cheng, Zhonghua Yang, Yong Li, Jun Bian, Haixia Zhou, Suhong Li, Li Li, Lei Miao, Huimin Xia, Jing He, Zhenjian Zhuo
Summary: The rs8400 G>A polymorphism in the ALKBH5 gene is found to be associated with neuroblastoma susceptibility and progression. This genetic variation leads to a decreased regulation of ALKBH5 by miR-186-3p, thereby promoting the occurrence and development of neuroblastoma.
CHINESE JOURNAL OF CANCER RESEARCH
(2023)
Article
Oncology
Mingming Wang, Yufu Zhang, Min Liu, Yuna Jia, Jing He, Xiangrong Xu, Haiyan Shi, Yunqing Zhang, Jing Zhang, Yusi Liu
Summary: This study investigated the impact of human umbilical cord mesenchymal stem cell (HUC-MSC) supernatants on glioblastoma (GBM) cell lines. Results showed that HUC-MSCs supernatants inhibited cell proliferation, migration, and invasion while promoting apoptosis. These effects were mediated through the IL-6/JAK2/STAT3 signaling pathway.
Article
Genetics & Heredity
Jialin Li, Qingxia Huang, Yingzhe Wang, Mei Cui, Kelin Xu, Chen Suo, Zhenqiu Liu, Yanpeng An, Li Jin, Huiru Tang, Xingdong Chen, Yanfeng Jiang
Summary: Cardiovascular health is linked to a lower risk of cognitive decline, and this association may be mediated by metabolic perturbations. The study found that better cardiovascular health was associated with a lower risk of concentration and orientation decline. Certain blood components, such as apolipoprotein-A1 and high-density lipoprotein cholesterol, were also associated with a lower risk of memory and orientation decline. Mediation analysis suggested that cholesterol ester and total lipids in medium-size HDL may partially mediate the negative association between health status and the risk of orientation decline. These findings highlight the potential of using lipoproteins as targets for early stage dementia screening and intervention.