FRONTIERS IN GENETICS 发表了经过严格同行评审的关于与生命的所有领域相关的基因和基因组的研究，从人类到植物，再到牲畜和其他模式生物。这本多学科、开放获取的期刊由世界领先专家组成的杰出编辑委员会领导，处于向研究人员、学者、临床医生、政策制定者和公众传播前沿研究的前沿。遗传研究及其影响各种生物过程的基因组有据可查。然而，大多数发现仍有待发现。一个新时代正在见证基因组功能和变异性、遗传和基因组工具的使用以及各种生物现象的遗传基础分析方面的重大发展。

Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes related to all fields of life, from humans to plants, livestock, and other model organisms. This multidisciplinary, open-access journal is led by a distinguished editorial board composed of world-leading experts, at the forefront of disseminating cutting-edge research to researchers, scholars, clinicians, policymakers, and the public. Genetic research and the genomic basis of its impact on various biological processes are well-documented; however, many discoveries remain to be made. We are witnessing a new era of significant advancements in the understanding of genomic functions and variability, the use of genetic and genomic tools, and the analysis of the genetic basis of various biological phenomena.

《Frontiers in Genetics》发表经过严格同行评审的研究，涵盖与生命相关的所有领域的基因和基因组，从人类到植物，再到牲畜和其他模式生物。这本多学科、开放获取的期刊由世界领先的专家组成的杰出编辑委员会领导，致力于向研究人员、学者、临床医生、政策制定者和公众传播前沿研究。遗传研究及其对各种生物过程的影响的基因组有据可查，但仍有许多发现待探索。我们正处于一个新时代，见证基因组功能和变异性、遗传和基因组工具的使用，以及对各种生物现象的遗传基础分析方面的重大进展。

Frontiers in Genetics

Background R3HDM1, an RNA binding protein with one R3H domain, remains uncharacterized in terms of its association with tumor progression, malignant cell regulation, and the tumor immune microenvironment. This paper aims to fill this gap by analyzing the potential of R3HDM1 in diagnosis, prognosis, chemotherapy, and immune function across various cancers. Methods Data was collected from the Firehost database ( http://gdac.broadinstitute.org ) to obtain the TCGA pan-cancer queue containing tumor and normal samples. Additional data on miRNA, TCPA, mutations, and clinical information were gathered from the UCSC Xena database ( https://xenabrowser.net/datapages/ ). The mutation frequency and locus of R3HDM1 in the TCGA database were examined using the cBioPortal. External validation through GEO data was conducted to assess the differential expression of R3HDM1 in different cancers. Protein expression levels were evaluated using the Clinical Proteomics Tumor Analysis Alliance (CPTAC). The differential expression of R3HDM1 was verified in lung adenocarcinoma cell lines and normal lung glandular epithelial cells via RT-qPCR. Cell migration and proliferation experiments were conducted by knocking down the expression of R3HDM1 in two lung adenocarcinoma cell lines using small interfering RNA. The biological role of R3HDM1 in pan-cancer was explored using the GSEA method. Multiple immune infiltration algorithms from the TIMER2.0 database was employed to investigate the correlation between R3HDM1 expression and the tumor immune microenvironment. Validation of transcriptome immune infiltration was based on 140 single-cell datasets from the TISCH database. The study also characterized a pan-cancer survival profile and analyzed the differential expression of R3HDM1 in different molecular subtypes. The relationship between R3HDM1 and drug resistance was investigated using four chemotherapy data sources: CellMiner, GDSC, CTRP and PRISM. The impact of chemicals on the expression of R3HDM1 was explored through the CTD database. Result The study revealed differential expression of R3HDM1 in various tumors, indicating its potential as an early diagnostic marker. Changes in somatic copy number (SCNA) and DNA methylation were identified as factors contributing to abnormal expression levels. Additionally, the study found that R3HDM1 expression is associated with clinical features, metabolic pathways, and important pathways related to metastasis and the immune system. High expression of R3HDM1 was linked to poor prognosis across different tumors and altered drug sensitivity. Furthermore, the expression of R3HDM1 showed significant correlations with immune modulatory molecules and biomarkers of lymphocyte subpopulation infiltration. Finally, the study highlighted four chemicals that could influence the expression of R3HDM1. Conclusion Overall, this study proposes that R3HDM1 expression is a promising biomarker for predicting the prognosis of cancer, especially lung adenocarcinoma, and the efficacy of immunotherapy, demonstrating the rationale for further exploration in the development of anti-tumor therapies.

Jiawei Liu

Zhitong Bing

Junling Wang

Comprehensive pan-cancer analysis and experiments revealed R3HDM1 as a novel predictive biomarker for prognosis and immune therapy response

综合泛癌分析与实验揭示R3HDM1作为预测预后与免疫治疗反应的新型生物标志物

Background Periodontitis, a complex inflammatory condition, has been associated with dietary habits and antioxidants. While the association between certain dietary patterns and periodontitis has been documented, the bidirectional relationship remains unclear. This study utilizes Mendelian randomization (MR) analysis to investigate the bidirectional associations between dietary factors comprising dietary antioxidants, and periodontitis. Methods Employing a two-sample MR approach, this study analyzed genome-wide association study (GWAS) data on diets and periodontitis from large databases and published literature. Instrumental variables (IVs) were selected and filtered based on genetic variants associated with dietary factors and periodontitis, respectively. Various MR methods, including Inverse Variance Weighted, MR-Egger, Weighted Median, Weighted Mode, and Simple Mode were applied to assess the bidirectional associations. Sensitivity analyses were conducted to validate the robustness of the findings. Results Our analysis revealed significant associations between certain dietary factors and the risk of periodontitis. Specifically, higher intake of filtered coffee, low-calorie drinks, and other cereals, as well as increased metabolic circulating levels of gamma-tocopherol, were associated with an elevated risk of periodontitis. Conversely, consumption of cheese, white rice, chocolate bars, unsalted peanuts, and higher absolute circulating levels of vitamin C were linked to a reduced risk. Additionally, the study suggests that periodontitis may influence dietary habits, indicating a bidirectional relationship. Conclusion This study provides additional evidence of a bidirectional association between dietary factors and periodontitis. It highlights the importance of dietary interventions in the prevention and management of periodontitis. The findings underscore the need for incorporating dietary counseling into periodontal disease management protocols and suggest the potential of personalized dietary strategies for periodontitis patients. Further research is warranted to explore the mechanisms underlying these associations and to confirm these findings in diverse populations.

Xiaoyu Yang

Jingchan Wang

Houlin Hong

Xing Feng

Xiumei Zhang

Jinlin Song

The association between diets and periodontitis: a bidirectional two-sample Mendelian randomization study

Background Kidney stones are a common urologic disease with an increasing incidence year by year, and there are similar influences between gout status and kidney stone incidence. Therefore the contribution of gout status to the incidence of kidney stones is unclear. The aim of this study was to investigate the relationship between gout status and kidney stones and to further explore the causal relationship by Mendelian randomization (MR) analysis. Method An epidemiologic study of 49,693 participants in the 2009–2018 National Health and Nutrition Examination Survey (NHANES) was conducted to examine the association between the two. The causal relationship between gout status and kidney stones was assessed by Mendelian randomization analysis of data from the GWAS database. Result A total of 28,742 participants were included in the NHANES analysis. We found that gout status was associated with an increased risk of kidney stones [odds ratio (OR) = 1.45 (95%CI, 1.243–1.692); p &amp;lt; 0.001]. In the MR analysis, we found a causal relationship between gout status and the risk of developing kidney stones (OR = 1.047, 95%CI, 1.011–1.085, p = 0.009). Conclusion There may be an association between gout status and kidney stone risk. This finding requires further large-sample studies and adequate follow-up.

Shengkai Jin

Haochen Geng

Yichen Lu

Yuhua Zhou

Jing Lv

Chaowei Fu

Yuwei Zhang

Menglu Li

Ninghan Feng

Association between gout and kidney stone: results from mendelian randomization and the NHANES study

痛风与肾结石之间的关联：孟德尔随机化与NHANES研究的结果

P53 protein is the product of P53 gene, which is a well acknowledged tumor suppressor gene. The function of P53 and the relevant mechanisms of anti-neoplasm have raised the interest of researchers since many years ago. It is demonstrated that P53 is a basic cell cycle regulator and a strong inhibitor for versatile cancers in humans. However, most research focuses on other organs and systems instead of the central nervous system (CNS). In fact, in recent years, more and more studies have been suggesting that P53 plays a significant role in multiple CNS tumors and other diseases and disorders such as cerebral stroke and neurodegenerative diseases. In this work, we mainly reviewed the P53’s relationship with CNS tumors, cerebral stroke and neurodegenerative diseases, together with the relevant mechanisms, aiming to summarize the research achievements and providing new insight to the future study on diseases in CNS.

Li Lei

Qixiong Lu

Guifang Ma

Tao Li

Jiahong Deng

Weijia Li

P53 protein and the diseases in central nervous system

P53蛋白与中枢神经系统疾病

Background: The existence of maternal malignancy may cause false-positive results or failed tests of NIPT. Though recent studies have shown multiple chromosomal aneuploidies (MCA) are associated with malignancy, there is still no effective solution to identify maternal cancer patients from pregnant women with MCA results using NIPT. We aimed to develop a new method to effectively detect maternal cancer in pregnant women with MCA results using NIPT and a random forest classifier to identify the tissue origin of common maternal cancer types. Methods: For examination, 496 participants with MCA results via NIPT were enrolled from January 2016 to June 2019 at BGI. Cancer and non-cancer participants were confirmed through the clinical follow-up. The cohort comprising 42 maternal cancer cases and 294 non-cancer cases enrolled from January 2016 to December 2017 was utilized to develop a method named mean of the top five chromosome z scores (MTOP5Zscores). The remaining 160 participants enrolled from January 2018 to June 2019 were used to validate the performance of MTOP5Zscores. We established a random forest model to classify three common cancer types using normalized Pearson correlation coefficient (NPCC) values, z scores of 22 chromosomes, and seven plasma tumor markers (PTMs) as predictor variables. Results: 62 maternal cancer cases were confirmed with breast cancer, liver cancer, and lymphoma, the most common cancer types. MTOP5Zscores showed a sensitivity of 85% (95% confidence interval (CI), 62.11-96.79%) and specificity of 80% (95% CI, 72.41-88.28%) in the detection of maternal cancer among pregnant women with MCA results. The sensitivity of the classifier was 93.33, 66.67, and 50%, while specificity was 66.67, 90, and 97.06%, and positive predictive value (PPV) was 60.87, 72.73, and 80% for the prediction of breast cancer, liver cancer, and lymphoma, respectively. Conclusion: This study presents a solution to identify maternal cancer patients from pregnant women with MCA results using NIPT, indicating it as a value-added application of NIPT in the detection of maternal malignancies in addition to screening for fetal aneuploidies with no extra cost.

Jia Li

Jia Ju

Qiang Zhao

Weiqiang Liu

Yuying Yuan

Qiang Liu

Lijun Zhou

Yuan Han

Wen Yuan

Yonghua Huang

Yingjun Xie

Zhihua Li

Jingsi Chen

Shuyu Huang

Rufang Chen

Wei Li

Meihua Tan

Danchen Wang

Si Zhou

Jian Zhang

Fanwei Zeng

Nan Yu

Fengxia Su

Min Chen

Yunsheng Ge

Yanming Huang

Xin Jin

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing

Background Observational studies have reported changes in gut microbiota abundance caused by long-term statin medication therapy. However, the causal relation between statin medication and gut microbiota subsets based on genetic variants remains unclear. Methods We used genome-wide association study (GWAS) data on statin medication from the FinnGen database and gut microbiota abundance GWAS data from the IEU OpenGWAS project. A Mendelian randomization (MR) analysis was conducted to evaluate the causal effect of statin medication on gut microbiota abundance using the inverse variance weighting (IVW) method, MR-Egger regression, and weighted median approach. Meanwhile, heterogeneity and pleiotropy analyses were also undertaken in this study. Results Statin medication was negatively correlated with five species of gut microbiota abundance: Parabacteroides (Beta IVW = −0.2745, 95% CI = (−0.4422, −0.1068), and P IVW = 0.0013), Ruminococcaceae UCG-009 (Beta IVW = −0.1904, 95% CI = (−0.3255, −0.0553), and P IVW = 0.0057), Coprococcus 1 (Beta IVW = −0.1212, 95% CI = (−0.2194, −0.0231), and P IVW = 0.0154), Ruminococcaceae UCG-010 (Beta IVW = −0.1149, 95% CI = (−0.2238, −0.0060), and P IVW = 0.0385), and Veillonellaceae (Beta IVW = −0.0970, 95% CI = (−0.2238, 0.0060), and P IVW = 0.0400) and positively correlated with one species of gut microbiota: Desulfovibrio (Beta IVW = 0.2452, 95% CI = (0.0299, 0.4606), and P IVW = 0.0255). In addition, no significant heterogeneity or pleiotropy was detected in the abovementioned gut microbiota. Conclusion This Mendelian randomization analysis indicates a causal relationship between statin medication and six gut microbiota species. These findings may provide new strategies for health monitoring in populations taking long-term statin medications.

Peng Zhou

Chen Qiu

Zequn Zhuang

Kaihang Shi

Zhihui Yang

Yuyan Ding

Huiheng Qu

Jiazeng Xia

A two-sample Mendelian randomization study reveals the causal effects of statin medication on gut microbiota abundance in the European population

两样本孟德尔随机化研究揭示他汀类药物对欧洲人群肠道微生物群丰度的因果效应

Introduction We investigated the relationship between systematic regulators of inflammation and the risk of age-related macular degeneration (AMD), both wet and dry forms, by using bidirectional, two-sample Mendelian randomization (MR). Methods We performed bidirectional two-sample Mendelian randomization analysis using genome-wide study (GWAS) data for 91 plasma proteins from 14,824 individuals of European descent across 11 study groups. Next, we utilized data from the FinnGen consortium to study AMD using the inverse- variance-weighted approach for Mendelian randomization. Additional analyses involved MR-Egger, Weighted median, Weighted mode, MR-PRESSO, and MR- Steiger filtering techniques. Results We identified 16 cytokines associated AMD outcomes and post FDR correction, higher levels of fibroblast growth factor 19 and leukemia inhibitory factor receptor were associated with decreased risk for AMD, while higher levels of tumour necrosis factor ligand superfamily member 14 were associated with increased risk for AMD. Additionally, higher levels of interleukin-10 receptor subunit alpha were associated with decreased risk for wet AMD, higher levels of leukemia inhibitory factor receptor were associated with decreased risk for dry AMD, and higher levels of signaling lymphocytic activation molecule were associated with increased risk for dry AMD. Genetic susceptibility to AMD was associated with elevated levels of TNF-related activation-induced cytokines (TNFSF11), and genetic susceptibility to wet AMD was associated with elevated levels of TNFSF11, interleukin-18 receptor 1 (IL18R1), and CUB domain-containing protein 1 (CDCP1). Discussion This research enhances our understanding of systemic inflammation in AMD, providing insights into etiology, diagnosis, and treatment of AMD and its forms.

Xi Liu

Yu Cao

Ying Wang

Lihua Kang

Guowei Zhang

Junfang Zhang

Bai Qin

Ling Yang

Jiawei Luo

Pengfei Li

Wenjing Geng

Min Ji

Huaijin Guan

Systemic inflammatory regulators and age-related macular degeneration: a bidirectional Mendelian randomization study

系统性炎症调节因子与年龄相关性黄斑变性：一项双向孟德尔随机化研究

Introduction Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous. Methods Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.5, which caused SRS or a normal phenotype across three generations. Results Duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index of 0.62) resulted in typical SRS. Conclusion The result added to the complexity of the molecular genetics of SRS.

Shurong Hong

Hua Wei

Xueyi Zhuang

Weirong Huang

Yu Zhang

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis

11p15重复导致的Silver-Russell综合征的产前诊断及家系分析

Although lab-coat genomics scientists are highly skilled and involved in pioneering work, few studies have examined their perceptions on what they do, and how they relate with others in interdisciplinary work. Recognizing that gap, we were curious to talk with scientists about their current work and positionalities related to the use of genomics for bioremediation. Using unstructured open-ended interviews and thematic analysis, we interviewed researchers with diverse genomics-related expertise. Emerging topics were grouped into two broad categories akin to Bronfenbrenner’s nested developmental model: microsystem matters, comprising technical advances, barriers, and localized concerns; and macrosystem matters, exploring wider reflections and the philosophies of genomics and society. At the microsystem level, findings revealed differences of opinion about methodological steps, but there was agreement about the incompleteness of databases and the absence of established reference values. These two problems may not only impact a project’s progress but also the ability to gauge success, affecting budgeting, human resource needs, and overall stress. At the macrosystem level, scientists voiced concerns about how different social groups perceive and accept genomics applications, as those tend to be viewed by lay persons as genetic interventions. Another focus was on how academic publication slows progress because it is orientated toward positive results while gaps in knowledge could be filled by publishing negative results or methodological barriers. This study underscores scientists’ self-awareness within the genomics discipline, acknowledging how their beliefs and biases shape research outcomes. It illuminates critical reflections essential for navigating societal and scientific landscapes in genomics research.

Abbreviation	Front. Genet.
Journal Impact	2.67
Quartiles(Global)	GENETICS & HEREDITY(Q2)

ISSN	1664-8021
h-index	120

Publication Information	Publisher: Frontiers Media SA，Publishing cycle: ，Journal Type: journal，Open Access Journals: Yes
Basic data	Year of publication: 2010，Proportion of original research papers: 89.11%，Self Citation Rate:3.60%， Gold OA Rate: 99.58%
Journal Fees	$3295Details
Average review cycle	网友分享经验：14 Weeks

Frontiers in Genetics

Journal Citation Format

A journal article with 1 author

A journal article with 2 authors

A journal article with 3 authors

A journal article with 5 or more authors

Books Citation Format

Thesis Citation Format

Web sites Citation Format

Patent Citation Format

Staying up late manually editing references? ivySCI automatically matches journals and helps you generate references with a single click.

Share Submission Experience