Article
Multidisciplinary Sciences
Filip Machaj, Katarzyna Ewa Sokolowska, Konrad Borowski, Szymon Retfinski, Dominik Strapagiel, Marta Sobalska-Kwapis, Tomasz Huzarski, Jan Lubinski, Tomasz Kazimierz Wojdacz
Summary: PCR-based MS-HRM is effective in detecting low-level BRCA1 methylation in DNA extracted from blood, while EPIC microarray does not provide conclusive results for the presence of BRCA1 constitutional methylation in MS-HRM epimutation positive samples. Assessing the sensitivity of different techniques in detecting constitutional methylation in blood samples is crucial for cancer prediction research.
SCIENTIFIC REPORTS
(2023)
Article
Endocrinology & Metabolism
Mujin Ye, Bin Hu, Weihui Shi, Fei Guo, Chenming Xu, Shuyuan Li
Summary: The study found a strong association between mtDNA(4977) DR and PCOS, suggesting that it may represent an independent risk factor for PCOS. Further research is needed to explore the potential value of mtDNA as a biomarker for PCOS.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kristen J. Polinski, Sonia L. Robinson, Diane L. Putnick, Rajeshwari Sundaram, Erin Bell, Paule V. Joseph, James Segars, Weihua Guan, Robert M. Silver, Enrique F. Schisterman, Sunni L. Mumford, Edwina H. Yeung
Summary: Research suggests that newborns exposed to PCOS, particularly those born to mothers with hirsutism, have differential DNA methylation at certain CpG sites. Additionally, newborns of women with higher preconception testosterone levels also show differential DNA methylation. These differences may be under fetal genetic control.
Review
Obstetrics & Gynecology
Matheus Credendio Eiras, Daniel Pascoalino Pinheiro, Kalil Andrade Mubarac Romcy, Rui Alberto Ferriani, Rosana Maria Dos Reis, Cristiana Libardi Miranda Furtado
Summary: PCOS is a common endocrine disorder affecting 5-20% of women of reproductive age, characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. In addition to reproductive outcomes, it is also associated with metabolic disturbances and cardiovascular disease.
REPRODUCTIVE SCIENCES
(2022)
Article
Biology
Carlos Ruiz-Arenas, Carles Hernandez-Ferrer, Marta Vives-Usano, Sergi Mari, Ines Quintela, Dan Mason, Solene Cadiou, Maribel Casas, Sandra Andrusaityte, Kristine Bjerve Gutzkow, Marina Vafeiadi, John Wright, Johanna Lepeule, Regina Grazuleviciene, Leda Chatzi, Angel Carracedo, Xavier Estivill, Eulalia Marti, Georgia Escaramis, Martine Vrijheid, Juan R. Gonzalez, Mariona Bustamante
Summary: This study identified autosomal cis eQTMs in children's blood by analyzing the relationship between DNA methylation levels and gene expression. These findings contribute to the interpretation of epigenome-wide association studies and provide a publicly available catalogue.
Article
Biochemical Research Methods
Oleksii Nikolaienko, Per Eystein Lonning, Stian Knappskog
Summary: With recent advances in the field of epigenetics, there is a growing focus on rare transmitted constitutional epimutations. The research team developed a method called ramr to identify aberrantly methylated DNA regions and confirmed its applicability for cancer risk analysis.
Article
Oncology
Per E. Lonning, Oleksii Nikolaienko, Kathy Pan, Allison W. Kurian, Hans P. Eikesdal, Mary Pettinger, Garnet L. Anderson, Ross L. Prentice, Rowan T. Chlebowski, Stian Knappskog
Summary: This study found a significant association between constitutional normal tissue BRCA1 promoter methylation and the risk of developing triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC).
Review
Reproductive Biology
Yan-Nan Liu, Yi Qin, Bin Wu, Hui Peng, Ming Li, Hai Luo, Lin-Lin Liu
Summary: Polycystic ovary syndrome (PCOS) is closely related to epigenetic factors, and changes in DNA methylation are associated with the pathogenesis of PCOS.
REPRODUCTIVE TOXICOLOGY
(2022)
Article
Peripheral Vascular Disease
Jacob. K. K. Kresovich, Zongli Xu, Katie. M. M. O'Brien, Christine. G. G. Parks, Clarice. R. R. Weinberg, Dale. P. P. Sandler, Jack. A. A. Taylor
Summary: This study found that shifts in lymphocyte subsets occur before the development of hypertension, followed by changes to neutrophils and additional lymphocytes.
Correction
Biochemistry & Molecular Biology
Mingrui Li, Yanli Li, Haide Qin, Justin D. Tubbs, Minghui Li, Chunhong Qiao, Jinran Lin, Qingyang Li, Fengmei Fan, Mengzhuang Gou, Junchao Huang, Jinghui Tong, Fude Yang, Yunlong Tan, Yin Yao
Summary: A correction to the paper has been published.
MOLECULAR PSYCHIATRY
(2021)
Article
Multidisciplinary Sciences
Andrea Lauria, Guohua Meng, Valentina Proserpio, Stefania Rapelli, Mara Maldotti, Isabelle Laurence Polignano, Francesca Anselmi, Danny Incarnato, Anna Krepelova, Daniela Donna, Chiara Levra Levron, Giacomo Donati, Ivan Molineris, Francesco Neri, Salvatore Oliviero
Summary: The establishment of DNA methylation patterns during mouse early development is crucial for cell fate determination. However, the specific molecular targets and mechanisms of de novo methylation machinery during differentiation are not fully understood. In this study, the researchers identified DNMT3B-dependent regulatory elements that play a critical role in cell fate determination. They found that DNMT3B-dependent DNA methylation is essential for proper differentiation and lineage determination, and ectopic expression of DNMT3B can restore normal gene expression and cell fate. This study provides important insights into the role of DNA methylation in early development and cell fate determination.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Ryan H. Miller, Chad A. Pollard, Kristin R. Brogaard, Andrew C. Olson, Ryan C. Barney, Larry I. Lipshultz, Erica B. Johnstone, Yetunde O. Ibrahim, James M. Hotaling, Enrique F. Schisterman, Sunni L. Mumford, Kenneth I. Aston, Tim G. Jenkins
Summary: Complex diseases are challenging to diagnose due to their multifactorial etiologies. This study developed a diagnostic tool that analyzes a comprehensive network of epigenetic profiles to identify global shifts associated with complex diseases. The tool was validated by assessing tissue-specific epigenetic variability, differences between diseased and normal tissue, and its utility in male infertility, showing potential for clinical use. This approach expands diagnostic research beyond single genetic targets and provides insights into the role of epigenetic variability in complex diseases.
FRONTIERS IN GENETICS
(2023)
Article
Endocrinology & Metabolism
Fei Zhang, Yicen Ding, Bohan Zhang, Mengju He, Zhijiang Wang, Chunbo Lu, Yani Kang
Summary: Through the analysis of the methylome and lipid metabolites, this study identified potential epigenetic markers and lipid metabolite markers for polycystic ovary syndrome (PCOS) that may provide new insights into the diagnosis and etiology of PCOS.
DIABETES METABOLIC SYNDROME AND OBESITY
(2023)
Article
Oncology
Tian Tian, JinMing Fu, DaPeng Li, YuPeng Liu, HongRu Sun, Xuan Wang, XianYu Zhang, Ding Zhang, Ting Zheng, Yashuang Zhao, Da Pang
Summary: Abnormal DNA methylation of immune-related genes in peripheral blood leukocytes is associated with breast cancer risk. Five potential biomarkers were identified through a case-control study and analysis of different cell subtypes. These findings could be used to predict breast cancer risk.
FRONTIERS IN ONCOLOGY
(2022)
Review
Medicine, General & Internal
Jing Xu, Cheng Xue, Xiaodong Wang, Lei Zhang, Changlin Mei, Zhiguo Mao
Summary: ADPKD, the most common inherited kidney disease worldwide, is mainly influenced by genes PKD1 and PKD2. Epigenetic modifications, particularly chromatin methylation and histone modifications, play a significant role in the development and progression of ADPKD. More research is needed to better understand and potentially treat the methylation abnormalities in ADPKD.
FRONTIERS IN MEDICINE
(2022)
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
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
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
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
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)
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)