Article
Biochemistry & Molecular Biology
Grzegorz Galita, Joanna Sarnik, Olga Brzezinska, Tomasz Budlewski, Grzegorz Dragan, Marta Poplawska, Ireneusz Majsterek, Tomasz Poplawski, Joanna S. S. Makowska
Summary: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by chronic arthritis and joint deformities. The risk of malignant neoplasms among patients with RA is being studied due to the autoimmune nature of RA and the use of immunomodulatory therapy. Impaired DNA repair efficiency in individuals with RA may contribute to this risk. In our study, we evaluated genetic variation in DNA damage repair genes and found associations between RA occurrence and certain polymorphisms. These findings suggest that DNA damage repair gene polymorphisms may play a role in RA pathogenesis and can potentially serve as markers of RA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Fisheries
Xin He, Yushan Liao, Zexin Yang, Hongxing Liu, Shi Wang, Yongbo Bao
Summary: The blood clam Tegillarca granosa is a commercially important bivalve species. This study conducted genome-wide association studies and identified 39 SNP markers associated with the growth traits of T. granosa. Additionally, 27 candidate genes potentially involved in T. granosa growth were identified. Enrichment analysis highlighted the role of transmembrane transport, immune system function, protein family metabolism, and JAK-STAT signaling pathways in T. granosa growth.
Article
Health Care Sciences & Services
Jang-Chun Lin, Yi-Chieh Wu, Fu-Chi Yang, Jo-Ting Tsai, David Y. C. Huang, Wei-Hsiu Liu
Summary: The genetic susceptibility for primary brain malignancy differs between GBM and non-GBM tumors, potentially reflecting different etiologies. This study identified five new genes associated with malignant brain tumors and suggested that RNA modification may be related to major risk factors in primary malignant brain neoplasms.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Genetics & Heredity
Saeideh Ashouri, Seik-Soon Khor, Yuki Hitomi, Hiromi Sawai, Nao Nishida, Masaya Sugiyama, Yosuke Kawai, Nawarat Posuwan, Pisit Tangkijvanich, Piyawat Komolmit, Makoto Tsuiji, Vorasuk Shotelersuk, Yong Poovorawan, Masashi Mizokami, Katsushi Tokunaga
Summary: This study conducted the first genome-wide association study in the Thai population and identified a significant association between the HLA class II region and chronic hepatitis B virus persistence. Several protective and risk alleles were also identified. Additionally, novel candidate loci were detected, providing new insights into the pathophysiology of chronic hepatitis B.
FRONTIERS IN GENETICS
(2022)
Review
Multidisciplinary Sciences
Shing Cheng Tan, Teck Yew Low, Hafiz Muhammad Jafar Hussain, Mohamad Ayub Khan Sharzehan, Hilary Sito, Hamed Kord-Varkaneh, Md Asiful Islam
Summary: This study conducted a systematic review and meta-analysis to investigate the association between the XRCC3 p.Thr241Met polymorphism and glioma risk. The results showed that this polymorphism is significantly associated with increased glioma risk in the homozygous and recessive models, particularly in the Asian population.
Article
Cardiac & Cardiovascular Systems
Jairo Lumpuy-Castillo, Claudia Vales-Villamarin, Ignacio Mahillo-Fernandez, Iris Perez-Nadador, Leandro Soriano-Guillen, Oscar Lorenzo, Carmen Garces
Summary: This study analyzed the relationship between ACE2 polymorphisms and cardiovascular risk factors in children, and found that certain ACE2 mutations are associated with obesity and hyperlipidemia in females.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Qiulian Liang, Gongchen Huang, Ping Zhong, Dengting Deng, Lin Yang, Xiangyuan Yu
Summary: This meta-analysis found an association between XRCC3 rs861539 genotype and the risk of ovarian cancer. Compared to the GG genotype, the GA + AA genotypes were found to significantly decrease the risk of ovarian cancer. Functional analysis showed that rs861539 could regulate the post-transcriptional expression of XRCC3 and also affect the expression and structure of other genes.
BIOSCIENCE REPORTS
(2023)
Review
Oncology
Gabriela Mattevi Almeida, Ana Clara Castilho, Douglas Adamoski, Karin Braun-Prado
Summary: MDM4 plays an important role in cell proliferation, DNA repair, and apoptosis regulation, and its overexpression and amplification lead to cancer formation and poor prognosis. The association between different MDM4 SNPs and solid tumor risk has conflicting conclusions across different populations, cancer types, and risk genotypes. Distinct haplotype patterns in different populations may affect the association between MDM4 SNPs and cancer risk.
Article
Fisheries
Baohua Duan, Tongxu Kang, Haifu Wan, Shumei Mu, Yueqiang Guan, Weibiao Liu, Zejian Li, Yang Tian, Yuqin Ren, Xianjiang Kang
Summary: The SIF gene in the swimming crab (Portunus trituberculatus) was investigated to understand its biological function. The study found that the SIF gene had higher expression in the fast-growing group compared to the slow-growing group, and it was ubiquitously expressed in various tissues, with the highest expression in the heart. Additionally, four SNPs in the SIF gene were found to be significantly associated with growth traits in the swimming crab.
AQUACULTURE REPORTS
(2023)
Article
Oncology
Nikhil Ranjan, Vimal Pandey, Manas Kumar Panigrahi, Lukas Klumpp, Ulrike Naumann, Phanithi Prakash Babu
Summary: Despite various treatments, survival rates for glioma patients are low. The tumor-suppressor gene MTUS1/ATIP1 may play a role in glioma malignancy and treatment outcomes, with its expression potentially being controlled by DNA methylation. Overexpression of ATIP1 can suppress glioma progression.
Article
Agronomy
Yu Zhang, Yu Wang, Dong Wu, Dong Qu, Xiaomin Sun, Xiaojuan Zhang
Summary: This study examined the SNP and Hd diversity of BnP5CR2 among canola cultivars with different resistance levels to S. sclerotiorum, as well as the expression patterns of BnP5CR2. The results show that gene-CDS-haplotype diversity may have greater power than SNPs for the detection of causal genes for quantitative traits.
Article
Plant Sciences
Anis Meschichi, Stefanie Rosa
Summary: It has recently been recognized that chromatin mobility is a highly dynamic process in chromosomes and plays important roles in gene regulation and genome stability. While much research has been conducted on chromatin mobility in yeast and animal systems, its investigation in plants has been relatively limited until now. Understanding the mechanisms of chromatin mobility in plants can provide valuable insights into plant genome functioning and their ability to respond to environmental cues. This review summarizes the current state of research on chromatin mobility in plants and discusses the technologies available to study its involvement in various cellular processes.
Article
Biochemical Research Methods
Roeland E. Voorrips, Giorgio Tumino
Summary: This study presents a new method to reconstruct haplotypes from SNP dosages derived from genotyping arrays in polyploids. The method shows higher accuracy compared to existing software, especially in the presence of full-sib families. The results demonstrate the usefulness of this method in polyploid genetic analysis.
BMC BIOINFORMATICS
(2022)
Article
Oncology
Katja Goricar, Franja Dugar, Vita Dolzan, Tanja Marinko
Summary: This study investigates the association between homologous recombination repair (HRR) gene polymorphisms and radiotherapy toxicity in early HER2-positive breast cancer. The result suggests that RAD51 and XRCC3 polymorphisms may contribute to adverse events in radiotherapy for early HER2-positive breast cancer patients, potentially serving as predictive biomarkers.
Article
Plant Sciences
Taeklim Lee, Kyung Do Kim, Ji-Min Kim, Ilseob Shin, Jinho Heo, Jiyeong Jung, Juseok Lee, Jung-Kyung Moon, Sungteag Kang
Summary: The study investigated the UV-B resistance in 688 soybean germplasms and identified genes associated with UV-B resistance through GWAS. It was found that UV-B resistance is a quantitative trait controlled by multiple genes, with cryptochrome 1 gene potentially playing a crucial role in UV-B resistance.
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)
Article
Rheumatology
Fangyi Wu, Xuling Han, Jing Liu, Zhenghua Zhang, Kexiang Yan, Beilan Wang, Lin Yang, Hejian Zou, Chengde Yang, Wei Huang, Li Jin, Jiucun Wang, Feng Qian, Zhenmin Niu
Summary: This study explores the association between variants in non MHC proteasome gene and AS, and finds that the rs12717 SNP in PSMB1 gene is significantly associated with AS. The study also discovers that PSMB1 regulates the RANK/RANKL signaling pathway and affects bone formation by inhibiting osteoclast differentiation.
Letter
Biochemistry & Molecular Biology
Shixiong Tian, Ziqi Wang, Liting Liu, Yiling Zhou, Yue Lv, Dongdong Tang, Jiaxiong Wang, Jing Jiang, Huan Wu, Shuyan Tang, Guanxiong Wang, Hao Geng, Fangbiao Tao, Hongbin Liu, Xiaojin He, Feng Zhang, Jinsong Li, Li Jin, Tao Huang, Chunyu Liu, Yunxia Cao
JOURNAL OF GENETICS AND GENOMICS
(2023)
Article
Dermatology
Qianqian Peng, Yu Liu, Anke Huels, Canfeng Zhang, Yao Yu, Wenqing Qiu, Xiyang Cai, Yuepu Zhao, Tamara Schikowski, Katja Merches, Yun Liu, Yajun Yang, Jiucun Wang, Yong Zhao, Li Jin, Liang Zhang, Jean Krutmann, Sijia Wang
Summary: Solar lentigines (SLs) are a common sign of aging skin caused by chronic exposure to sunlight and environmental stressors. Recent studies have suggested a possible genetic component, but the findings are inconsistent. Through a multi-trait analysis, researchers discovered that genetic variants in the telomerase reverse transcriptase gene are significantly associated with non-facial SLs in East Asian and Caucasian populations. These variants are also related to facial SLs but not other skin aging or pigmentation traits, highlighting a previously unrecognized role of telomerase reverse transcriptase in lentigines formation.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Genetics & Heredity
Shixiong Tian, Chaofeng Tu, Xiaojin He, Lanlan Meng, Jiaxiong Wang, Shuyan Tang, Yang Gao, Chunyu Liu, Huan Wu, Yiling Zhou, Mingrong Lv, Ge Lin, Li Jin, Yunxia Cao, Dongdong Tang, Feng Zhang, Yue-Qiu Tan
Summary: This study identified biallelic deleterious mutations of CFAP54 in three unrelated men with severe MMAF or NOA. These mutations were associated with abnormal sperm morphology, reduced sperm concentration and motility. Immunofluorescence assays showed reduced staining of four flagellar assembly-associated proteins in the spermatozoa of CFAP54-deficient men.
JOURNAL OF MEDICAL GENETICS
(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
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.
Article
Genetics & Heredity
Chunyu Liu, Wei Si, Chaofeng Tu, Shixiong Tian, Xiaojin He, Shengnan Wang, Xiaoyu Yang, Chencheng Yao, Cong Li, Zine-Eddine Kherraf, Maosen Ye, Zixue Zhou, Yuhua Ma, Yang Gao, Yu Li, Qiwei Liu, Shuyan Tang, Jiaxiong Wang, Hexige Saiyin, Liangyu Zhao, Liqun Yang, Lanlan Meng, Bingbing Chen, Dongdong Tang, Yiling Zhou, Huan Wu, Mingrong Lv, Chen Tan, Ge Lin, Qingpeng Kong, Hong Shi, Zhixi Su, Zheng Li, Yong-Gang Yao, Li Jin, Ping Zheng, Pierre F. Ray, Yue-Qiu Tan, Yunxia Cao, Feng Zhang
Summary: Primate-specific genes (PSGs) expressed in the brain and testis are consistent with brain evolution in primates. The identification of deleterious variants of the X-linked SSX1 gene in men with asthenoteratozoospermia highlights its crucial role in spermatogenesis. Knocking down Ssx1 expression in non-human primate and tree shrew models resulted in reduced sperm motility and abnormal sperm morphology, reflecting the phenotype observed in humans. This study has important implications for genetic counseling and clinical diagnosis, and provides insights into the functions of testis-enriched PSGs in spermatogenesis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Oncology
Zihao Niu, Peng Sun, Hongliang Liu, Peng Wei, Jia Wu, Zhigang Huang, Neil D. Gross, Sanjay Shete, Qingyi Wei, Mark E. Zafereo, George A. Calin, Guojun Li
Summary: This study found that TGFfi1 rs1800470 and TGFfiR1 rs334348 gene polymorphisms are associated with prognosis of HPV-associated oropharyngeal squamous cell carcinoma. These gene polymorphisms are related to overall survival, disease-specific survival, and disease-free survival in patients with OPSCC. The association is particularly significant in HPV-positive patients. These findings suggest that TGFfi1 rs1800470 and TGFfiR1 rs334348 may modify the risks of death and recurrence in OPSCC patients and can serve as prognostic biomarkers for better personalized treatment and improved prognosis.
CLINICAL CANCER RESEARCH
(2023)
Article
Environmental Sciences
Tongchao Zhang, Xiaolin Yin, Xiaorong Yang, Ziyu Yuan, Qiyun Wu, Li Jin, Xingdong Chen, Ming Lu, Weimin Ye
Summary: This study investigated the association between 12 trace elements and gastroesophageal cancers (GOC) using hair and fingernail samples collected from GOC cases and controls in Taixing, China. The results showed that higher levels of Ca, Zn, Fe, Al, Cr, Pb, Se, and V were positively associated with increased GOC, while higher levels of Mg, Mn, Sr, and As were inversely associated with GOC. Interaction effects between hair level of Cr and smoking or alcohol drinking were also observed.
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2023)
Article
Multidisciplinary Sciences
Yang Gao, Xiaofei Yang, Hao Chen, Xinjiang Tan, Zhaoqing Yang, Lian Deng, Baonan Wang, Shuang Kong, Songyang Li, Yuhang Cui, Chang Lei, Yimin Wang, Yuwen Pan, Sen Ma, Hao Sun, Xiaohan Zhao, Yingbing Shi, Ziyi Yang, Dongdong Wu, Shaoyuan Wu, Xingming Zhao, Binyin Shi, Li Jin, Zhibin Hu, Yan Lu, Jiayou Chu, Kai Ye, Shuhua Xu
Summary: The data from the Chinese Pangenome Consortium's first phase reveals a substantial increase in the discovery of novel and missing sequences when individuals from underrepresented minority ethnic groups are included. The missing reference sequences contain archaic-derived alleles and genes related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses, and lifespan, suggesting great potential for understanding human evolution and filling in missing heritability in complex diseases.
Article
Neurosciences
Jincheng Li, Sibo Zhu, Yingzhe Wang, Min Fan, Jiacheng Dai, Chengkai Zhu, Kelin Xu, Mei Cui, Chen Suo, Li Jin, Yanfeng Jiang, Xingdong Chen
Summary: By comparing the gut microbiota in a community-based cohort, it was found that bacteria capable of producing SCFAs were positively associated with better cognitive performance. In addition, specific bacterial strains were more abundant in individuals with MCI or CN groups and were correlated with cognitive performance.
NEUROBIOLOGY OF DISEASE
(2023)
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.
