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Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Dominique P. Germain, Ales Linhart
Fabry disease, a rare X-linked genetic disorder, results from pathogenic variants in GLA, leading to deficient lysosomal α-galactosidase A enzyme activity and multi-organ manifestations. Since 2001, enzyme replacement therapy (ERT), using agalsidase alfa or agalsidase beta, has been the mainstay treatment, albeit with limitations such as rapid clearance and immunogenicity. Pegunigalsidase alfa, a novel
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HLA variations in patients with diffuse large B-cell lymphoma and association with disease risk and prognosis: a case-control study Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Ioanna Diamanti, Asimina Fylaktou, Evgenia Verrou, Efthimia Vlachaki, Manolis Sinakos, Eirini Katodritou, Konstantinos Ouranos, Fani Minti, Georgia Gioula
IntroductionHuman leukocyte antigen (HLA) polymorphisms have been associated with the development of various autoimmune diseases, as well as malignant neoplasms. Non-Hodgkin lymphomas (NHLs) are a heterogenous group of lymphoid malignancies in which a genetic substrate has been established and is deemed to play a crucial role in disease pathogenesis. This study aimed to identify whether variations
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Association analysis of polymorphisms in SLK, ARHGEF9, WWC2, GAB3, and FSHR genes with reproductive traits in different sheep breeds Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Meini Tao, Zhiqiang Li, Meng Liu, Haiyu Ma, Wujun Liu
The aim was to investigate the relationship between polymorphisms of gene mutation loci and reproductive traits in local sheep breeds (Duolang Sheep) and introduced sheep breeds (Suffolk, Hu Sheep) in Xinjiang to provide new molecular markers for the selection and breeding of high fecundity sheep. The expression pattern of typing successful genes in sheep tissues was investigated by RT-qPCR technology
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The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Ruyu Liao, Rongrong Geng, Yue Yang, Yufan Xue, Lili Chen, Lan Chen
Background: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families. Scholars have devoted themselves to studying MPS’s pathogenesis and treatment modalities and have published many papers. Therefore, we conducted a bibliometric and visual study of the
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Exploring TSPAN4 promoter methylation as a diagnostic biomarker for tuberculosis Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Jiahao Zhang, Jilong Chen, Yan Zhang, Liuchi Chen, Weiwei Mo, Qianting Yang, Mingxia Zhang, Haiying Liu
Background:Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), is a persistent infectious disease threatening human health. The existing diagnostic methods still have significant shortcomings, including a low positivity rate in pathogen-based diagnoses and the inability of immunological diagnostics to detect active TB. Hence, it is urgent to develop new techniques to detect TB more accurate
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Exploring the role of the CapG gene in hypoxia adaptation in Tibetan pigs Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Feifei Yan, Yu Wang, Mingbang Wei, Jian Zhang, Yourong Ye, Mengqi Duan, Yangzom Chamba, Peng Shang
Introduction: The CapG gene, which is an actin-binding protein, is prevalent in eukaryotic cells and is abundantly present in various pathways associated with plateau hypoxia adaptation. Tibetan pigs, which have inhabited high altitudes for extended periods, provide an excellent research population for investigating plateau hypoxia adaptation.Results: This study focused on Tibetan pigs and Yorkshire
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Characterization of FBA genes in potato (Solanum tuberosum L.) and expression patterns in response to light spectrum and abiotic stress Front. Genet. (IF 3.7) Pub Date : 2024-04-12 Ting Li, Xinyue Hou, Zhanglun Sun, Bin Ma, Xingxing Wu, Tingting Feng, Hao Ai, Xianzhong Huang, Ruining Li
Fructose-1, 6-bisphosphate aldolase (FBA) plays vital roles in plant growth, development, and response to abiotic stress. However, genome-wide identification and structural characterization of the potato (Solanum tuberosum L.) FBA gene family has not been systematically analyzed. In this study, we identified nine StFBA gene members in potato, with six StFBA genes localized in the chloroplast and three
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Gonadal transcriptome sequencing reveals sexual dimorphism in expression profiling of sex-related genes in Asian arowana (Scleropages formosus) Front. Genet. (IF 3.7) Pub Date : 2024-04-11 Chenxi Zhao, Chao Bian, Xidong Mu, Xinhui Zhang, Qiong Shi
Asia arowana (Scleropages formosus) is an ornamental fish with high economic value, while its sex determination mechanism is still poorly understood. By far, no morphological evidence or molecular marker has been developed for effective distinguishment of genders, which poses a critical challenge to our captive breeding efforts. In this study, we sequenced gonadal transcriptomes of adult Asian arowanas
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Application and perspective of CRISPR/Cas9 genome editing technology in human diseases modeling and gene therapy Front. Genet. (IF 3.7) Pub Date : 2024-04-11 Man-Ling Zhang, Hong-Bin Li, Yong Jin
The Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) mediated Cas9 nuclease system has been extensively used for genome editing and gene modification in eukaryotic cells. CRISPR/Cas9 technology holds great potential for various applications, including the correction of genetic defects or mutations within the human genome. The application of CRISPR/Cas9 genome editing system in human
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Development and validation of an interpretable radiomic signature for preoperative estimation of tumor mutational burden in lung adenocarcinoma Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Yuwei Zhang, Yichen Yang, Yue Ma, Ying Liu, Zhaoxiang Ye
Background:Tumor mutational burden (TMB) is a promising biomarker for immunotherapy. The challenge of spatial and temporal heterogeneity and high costs weaken its power in clinical routine. The aim of this study is to estimate TMB preoperatively using a volumetric CT–based radiomic signature (rMB).Methods:Seventy-one patients with resectable lung adenocarcinoma (LUAD) who underwent whole-exome sequencing
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Critical gene signature and immunological characterization in peripheral vascular atherosclerosis: novel insights from mendelian randomization and transcriptomics Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Wei Xie, Shumin Chen, Hanqing Luo, Chuiyu Kong, Dongjin Wang
IntroductionPeripheral vascular atherosclerosis (PVA) is a chronic inflammatory disease characterized by lipid accumulation in blood vessel walls, leading to vessel narrowing and inadequate blood supply. However, the molecular mechanisms underlying PVA remain poorly understood. In this study, we employed a combination of Mendelian randomization (MR) analysis and integrated transcriptomics to identify
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Evaluation of bi-directional causal association between periodontitis and benign prostatic hyperplasia: epidemiological studies and two-sample mendelian randomization analysis Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Haotian Wei, Guangjie Tian, Shendan Xu, Yaqi Du, Minting Li, Yonglan Wang, Jiayin Deng, Changyi Quan
Background: Periodontitis and benign prostatic hyperplasia (BPH) are all common chronic diseases with higher incidence in middle-aged and old men. Several studies have indicated a potential association between periodontitis and BPH, although the findings remain inconclusive. However, there is no mendelian randomization (MR) studies to assess this association.Methods: The 40 men who had received health
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Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Yepei Du, Cong Zhou, Jing Wang, Yanting Yang, Hui Liu
Purpose:Thalassemia is a severe hereditary blood disorder that poses a significant threat to human health and leads to mortality and disability. It is one of the most prevalent monogenic diseases worldwide. The aim of this study was to analyze the molecular epidemiological data of individuals of childbearing age from the Han ethnic group with thalassemia in Southwest China and to explore the application
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Exploring the roles and potential therapeutic strategies of inflammation and metabolism in the pathogenesis of vitiligo: a mendelian randomization and bioinformatics-based investigation Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Ming-jie He, De-long Ran, Zhan-yi Zhang, De-shuang Fu, Qing He, Han-Yin Zhang, Yu Mao, Peng-Yuan Zhao, Guang-wen Yin, Jiang-an Zhang
Introduction:Vitiligo, a common autoimmune acquired pigmentary skin disorder, poses challenges due to its unclear pathogenesis. Evidence suggests inflammation and metabolism’s pivotal roles in its onset and progression. This study aims to elucidate the causal relationships between vitiligo and inflammatory proteins, immune cells, and metabolites, exploring bidirectional associations and potential drug
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Integrative analysis of the lncRNA-miRNA-mRNA interactions in smooth muscle cell phenotypic transitions Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Aatish Mahajan, Junyoung Hong, Irene Krukovets, Junchul Shin, Svyatoslav Tkachenko, Cristina Espinosa-Diez, Gary K. Owens, Olga A. Cherepanova
Objectives: We previously found that the pluripotency factor OCT4 is reactivated in smooth muscle cells (SMC) in human and mouse atherosclerotic plaques and plays an atheroprotective role. Loss of OCT4 in SMC in vitro was associated with decreases in SMC migration. However, molecular mechanisms responsible for atheroprotective SMC-OCT4-dependent effects remain unknown.Methods: Since studies in embryonic
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Combined metabolome and transcriptome analyses reveal that growing under Red shade affects secondary metabolite content in Huangjinya green tea Front. Genet. (IF 3.7) Pub Date : 2024-04-10 Zaifa Shu, Qingyong Ji, Tianjun He, Dayun Zhou, Shenghong Zheng, Huijuan Zhou, Weizhong He
Shading treatments impact the tea (Camellia sinensis L.) quality. The sunlight sensitive varieties can be grown under shading nets for better growth and secondary metabolite content. Here, we studied the responses of a sunlight sensitive green tea variety “Huangjinya” by growing under colored shading nets (red, yellow, blue, and black (75% and 95%) shading rates) to find out the most suitable color
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LINC01614 is a promising diagnostic and prognostic marker in HNSC linked to the tumor microenvironment and oncogenic function Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Xiong Tian, Dali Hu, Na Wang, Lele Zhang, Xuequan Wang
BackgroundTumor initiation and metastasis influence tumor immune exclusion and immunosuppression. Long non-coding RNA (lncRNA) LINC01614 is associated with the prognosis and metastasis of several cancers. However, the relationship between LINC01614 and cancer immune infiltration and the biofunction of LINC01614 in head and neck squamous cell carcinoma (HNSC) remain unclear.MethodsThe Genotype-Tissue
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Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20 Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Yuqi Shao, Saisai Yang, Jiafu Li, Lin Cheng, Jiawei Kang, Juan Liu, Jianhong Ma, Jie Duan, Yuanzhen Zhang
Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays.Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences
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Detection of chromosomal instability using ultrasensitive chromosomal aneuploidy detection in the diagnosis of precancerous lesions of gastric cancer Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Suting Qian, Feifei Xie, Haoyu Zhao, Ting Jiang, Yi Sang, Wei Ye, Qingsheng Liu, Danli Cai
Background:The diagnosis of Precancerous Lesions of Gastric Cancer (PLGC) is challenging in clinical practice. We conducted a clinical study by analyzing the information of relevant chromosome copy number variations (CNV) in the TCGA database followed by the UCAD technique to evaluate the value of Chromosomal Instability (CIN) assay in the diagnosis of PLGC.Methods:Based on the screening of gastric
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Biosensing circulating MicroRNAs in autoinflammatory skin diseases: Focus on Hidradenitis suppurativa Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Chiara Moltrasio, Carlos André Silva, Paola Maura Tricarico, Angelo Valerio Marzano, Muhammad Sueleman, Sergio Crovella
MicroRNAs (miRNAs) play a crucial role in the early diagnosis of autoinflammatory diseases, with Hidradenitis Suppurativa (HS) being a notable example. HS, an autoinflammatory skin disease affecting the pilosebaceous unit, profoundly impacts patients’ quality of life. Its hidden nature, with insidious initial symptoms and patient reluctance to seek medical consultation, often leads to a diagnostic
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Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li
Introduction:Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotypes and clinical features are rare.Case Presentation:Herein, we report the case of a 23-year-old Chinese
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ACP-DRL: an anticancer peptides recognition method based on deep representation learning Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Xiaofang Xu, Chaoran Li, Xinpu Yuan, Qiangjian Zhang, Yi Liu, Yunping Zhu, Tao Chen
Cancer, a significant global public health issue, resulted in about 10 million deaths in 2022. Anticancer peptides (ACPs), as a category of bioactive peptides, have emerged as a focal point in clinical cancer research due to their potential to inhibit tumor cell proliferation with minimal side effects. However, the recognition of ACPs through wet-lab experiments still faces challenges of low efficiency
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The influence of the pollination compatibility type on the pistil S-RNase expression in European pear (Pyrus communis) Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Hanne Claessen, Han Palmers, Wannes Keulemans, Bram Van de Poel, Nico De Storme
The S-RNase gene plays an essential role in the gametophytic self-incompatibility (GSI) system of Pyrus. It codes for the stylar-expressed S-RNase protein which inhibits the growth of incompatible pollen tubes through cytotoxicity and the induction of programmed cell death in the pollen tube. While research on the Pyrus GSI system has primarily focused on the S-RNase gene, there is still a lack of
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Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis Front. Genet. (IF 3.7) Pub Date : 2024-04-09 Ting Xiong, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang, Chongjun Wu
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and family-based trio analysis (case 2). The significance of the intronic mutation was validated through a Minigene splicing assay and supported by subsequent
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Exploring the immunological landscape of osteomyelitis through mendelian randomization analysis Front. Genet. (IF 3.7) Pub Date : 2024-04-08 Kehan Long, Ao Gong, Dou Yu, Sumiao Dong, Zhendong Ying, Lei Zhang
Background:Osteomyelitis is a severe bone marrow infection, whose pathogenesis is not yet fully understood. This study aims to explore the causal relationship between immune cell characteristics and osteomyelitis, hoping to provide new insights for the prevention and treatment of osteomyelitis.Methods:Based on two independent samples, this study employed a two-sample Mendelian randomization (MR) analysis
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Expression profiling of ALOG family genes during inflorescence development and abiotic stress responses in rice (Oryza sativa L.) Front. Genet. (IF 3.7) Pub Date : 2024-04-08 Zhiyuan Liu, Zhenjiang Fan, Lei Wang, Siyue Zhang, Weichen Xu, Sijie Zhao, Sijia Fang, Mei Liu, Sackitey Mark Kofi, Shuangxi Zhang, Ningning Kang, Hao Ai, Ruining Li, Tingting Feng, Shuya Wei, Heming Zhao
The ALOG (Arabidopsis LSH1 and Oryza G1) family proteins, namely, DUF640 domain-containing proteins, have been reported to function as transcription factors in various plants. However, the understanding of the response and function of ALOG family genes during reproductive development and under abiotic stress is still largely limited. In this study, we comprehensively analyzed the structural characteristics
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Unveiling the hub genes in the SIGLECs family in colon adenocarcinoma with machine learning Front. Genet. (IF 3.7) Pub Date : 2024-04-08 Tiantian Li, Ji Yao
BackgroundDespite the recognized roles of Sialic acid-binding Ig-like lectins (SIGLECs) in endocytosis and immune regulation across cancers, their molecular intricacies in colon adenocarcinoma (COAD) are underexplored. Meanwhile, the complicated interactions between different SIGLECs are also crucial but open questions.MethodsWe investigate the correlation between SIGLECs and various properties, including
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TMBcalc: a computational pipeline for identifying pan-cancer Tumor Mutational Burden gene signatures Front. Genet. (IF 3.7) Pub Date : 2024-04-05
Background:In the precision medicine era, identifying predictive factors to select patients most likely to benefit from treatment with immunological agents is a crucial and open challenge in oncology.Methods:This paper presents a pan-cancer analysis of Tumor Mutational Burden (TMB). We developed a novel computational pipeline, TMBcalc, to calculate the TMB. Our methodology can identify small and reliable
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Analysis of weighted gene co-expression networks and clinical validation identify hub genes and immune cell infiltration in the endometrial cells of patients with recurrent implantation failure Front. Genet. (IF 3.7) Pub Date : 2024-04-05
Background:About 10% of individuals undergoing in vitro fertilization encounter recurrent implantation failure (RIF), which represents a worldwide social and economic concern. Nevertheless, the critical genes and genetic mechanisms underlying RIF are largely unknown.Methods:We first obtained three comprehensive microarray datasets “GSE58144, GSE103465 and GSE111974”. The differentially expressed genes
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Frontiers | Detection and characterization of copy number variation in three differentially-selected Nellore cattle populations Front. Genet. (IF 3.7) Pub Date : 2024-04-05 Lorena F. Benfica, Luiz F. Brito, Ricardo D. do Bem, Leticia F. de Oliveira, Henrique A. Mulim, Larissa G. Braga, Joslaine N. S. G. Cyrillo, Sarah F. M. Bonilha, Maria Eugenia Z. Mercadante
Introduction: Nellore cattle (Bos taurus indicus) is the main beef cattle breed raised in Brazil. This breed is well adapted to tropical conditions and, more recently, has experienced intensive genetic selection for multiple performance traits. Over the past 43 years, an experimental breeding program has been developed in the Institute of Animal Science (IZ, Sertaozinho, SP, Brazil), which resulted
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TMBcalc: a computational pipeline for identifying pan-cancer Tumor Mutational Burden gene signatures Front. Genet. (IF 3.7) Pub Date : 2024-04-05 Grete Francesca Privitera, Salvatore Alaimo, Anna Caruso, Alfredo Ferro, Stefano Forte, Alfredo Pulvirenti
Background:In the precision medicine era, identifying predictive factors to select patients most likely to benefit from treatment with immunological agents is a crucial and open challenge in oncology.Methods:This paper presents a pan-cancer analysis of Tumor Mutational Burden (TMB). We developed a novel computational pipeline, TMBcalc, to calculate the TMB. Our methodology can identify small and reliable
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Analysis of weighted gene co-expression networks and clinical validation identify hub genes and immune cell infiltration in the endometrial cells of patients with recurrent implantation failure Front. Genet. (IF 3.7) Pub Date : 2024-04-05 Zhenteng Liu, Shoucui Lai, Qinglan Qu, Xuemei Liu, Wei Zhang, Dongmei Zhao, Shunzhi He, Yuxia Sun, Hongchu Bao
Background:About 10% of individuals undergoing in vitro fertilization encounter recurrent implantation failure (RIF), which represents a worldwide social and economic concern. Nevertheless, the critical genes and genetic mechanisms underlying RIF are largely unknown.Methods:We first obtained three comprehensive microarray datasets “GSE58144, GSE103465 and GSE111974”. The differentially expressed genes
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Stigma associated with genetic testing for rare diseases—causes and recommendations Front. Genet. (IF 3.7) Pub Date : 2024-04-04
Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare
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Clinical relevance of HLA-DQ eplet mismatch and maintenance immunosuppression with risk of allosensitization after kidney transplant failure Front. Genet. (IF 3.7) Pub Date : 2024-04-04
The optimal immunosuppression management in patients with a failed kidney transplant remains uncertain. This study analyzed the association of class II HLA eplet mismatches and maintenance immunosuppression with allosensitization after graft failure in a well characterized cohort of 21 patients who failed a first kidney transplant. A clinically meaningful increase in cPRA in this study was defined
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Causal associations between autoimmune diseases and sarcopenia-related traits: a bi-directional Mendelian randomization study Front. Genet. (IF 3.7) Pub Date : 2024-04-04
Background:Sarcopenia is common in patients with autoimmune diseases (ADs); however, the causal associations between ADs and sarcopenia remain unclear. Therefore, this study investigated the causal associations using bi-directional Mendelian randomization analysis.Methods:Exposure-related single-nucleotide polymorphisms (SNPs) were extracted from genome-wide association studies (GWASs). GWAS statistics
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Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes Front. Genet. (IF 3.7) Pub Date : 2024-04-04
In December 2023, the US Food and Drug Administration and the UK Medicines and Healthcare Products Regulatory Agency granted the first regulatory approval for genome therapy for sickle cell disease. This approval brings hope to those suffering from this debilitating genetic disease. However, several barriers may hinder global patient access, including high treatment costs, obtaining informed consent
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Analysis of SIRT1 genetic variants in young Mexican individuals: relationships with overweight and obesity Front. Genet. (IF 3.7) Pub Date : 2024-04-04
The high prevalence of obesity in Mexico starting from the early stages of life is concerning and represents a major public health problem. Genetic association studies have reported that single nucleotide variants (SNVs) in SIRT1, an NAD+-dependent deacetylase that plays an important role in the regulation of metabolic cellular functions, are associated with multiple metabolic disorders and the risk
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Frontiers | CRF transcription factors in the trade-off between abiotic stress response and plant developmental processes Front. Genet. (IF 3.7) Pub Date : 2024-04-04 Davide Gentile, Giovanna Serino, Giovanna Frugis
Climate change-induced environmental stress significantly affects crop yield and quality. In response to environmental stressors, plants use defence mechanisms and growth suppression, creating a resource trade-off between the stress response and development. Although stress-responsive genes have been widely engineered to enhance crop stress tolerance, there is still limited understanding of the interplay
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Clinical relevance of HLA-DQ eplet mismatch and maintenance immunosuppression with risk of allosensitization after kidney transplant failure Front. Genet. (IF 3.7) Pub Date : 2024-04-04 Jenny Tran, Ibrahim Alrajhi, Doris Chang, Karen R. Sherwood, Paul Keown, Jagbir Gill, Matthew Kadatz, John Gill, James H. Lan
The optimal immunosuppression management in patients with a failed kidney transplant remains uncertain. This study analyzed the association of class II HLA eplet mismatches and maintenance immunosuppression with allosensitization after graft failure in a well characterized cohort of 21 patients who failed a first kidney transplant. A clinically meaningful increase in cPRA in this study was defined
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Causal associations between autoimmune diseases and sarcopenia-related traits: a bi-directional Mendelian randomization study Front. Genet. (IF 3.7) Pub Date : 2024-04-04 Chunlan Chen, Ying He
Background:Sarcopenia is common in patients with autoimmune diseases (ADs); however, the causal associations between ADs and sarcopenia remain unclear. Therefore, this study investigated the causal associations using bi-directional Mendelian randomization analysis.Methods:Exposure-related single-nucleotide polymorphisms (SNPs) were extracted from genome-wide association studies (GWASs). GWAS statistics
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Stigma associated with genetic testing for rare diseases—causes and recommendations Front. Genet. (IF 3.7) Pub Date : 2024-04-04 Gareth Baynam, Roy Gomez, Ritu Jain
Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare
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Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes Front. Genet. (IF 3.7) Pub Date : 2024-04-04 Tsung-Ling Lee, Tsutomu Sawai
In December 2023, the US Food and Drug Administration and the UK Medicines and Healthcare Products Regulatory Agency granted the first regulatory approval for genome therapy for sickle cell disease. This approval brings hope to those suffering from this debilitating genetic disease. However, several barriers may hinder global patient access, including high treatment costs, obtaining informed consent
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Analysis of SIRT1 genetic variants in young Mexican individuals: relationships with overweight and obesity Front. Genet. (IF 3.7) Pub Date : 2024-04-04 S. Salazar-García, A. Ibáñez-Salazar, E. Lares-Villaseñor, Noemi Gaytan Pacheco, E. Uresti-Rivera, D. P. Portales-Pérez, U. De la Cruz-Mosso, J. M. Vargas-Morales
The high prevalence of obesity in Mexico starting from the early stages of life is concerning and represents a major public health problem. Genetic association studies have reported that single nucleotide variants (SNVs) in SIRT1, an NAD+-dependent deacetylase that plays an important role in the regulation of metabolic cellular functions, are associated with multiple metabolic disorders and the risk
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Neuronal-specific methylome and hydroxymethylome analysis reveal significant loci associated with alcohol use disorder Front. Genet. (IF 3.7) Pub Date : 2024-04-03
Background: Alcohol use disorder (AUD) is a complex condition associated with adverse health consequences that affect millions of individuals worldwide. Epigenetic modifications, including DNA methylation (5 mC), have been associated with AUD and other alcohol-related traits. Epigenome-wide association studies (EWAS) have identified differentially methylated genes associated with AUD in human peripheral
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Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation Front. Genet. (IF 3.7) Pub Date : 2024-04-03
Allogeneic hematopoietic cell transplantation (HCT) is used to treat many blood-based disorders and malignancies, however it can also result in serious adverse events, such as the development of acute graft-versus-host disease (aGVHD). This study aimed to develop a donor-specific epigenetic classifier to reduce incidence of aGVHD by improving donor selection. Genome-wide DNA methylation was assessed
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Introducing dynamic consent for improved trust and privacy in research involving human biological material and associated data in South Africa Front. Genet. (IF 3.7) Pub Date : 2024-04-03
Biomedical research using human biological material and data is essential for improving human health, but it requires the active participation of many human volunteers in addition to the distribution of data. As a result, it has raised numerous vexing questions related to trust, privacy and consent. Trust is essential in biomedical research as it relates directly to the willingness of participants
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Frontiers | Identification of immune-related biomarkers for glaucoma using gene expression profiling Front. Genet. (IF 3.7) Pub Date : 2024-04-03 Dangdang Wang, Yanyu Pu, Sisi Tan, Xiaochen Wang, Lihong Zeng, Junqin Lei, Xi Gao, Hong Li
Introduction: Glaucoma, a principal cause of irreversible vision loss, is characterized by intricate optic neuropathy involving significant immune mechanisms. This study seeks to elucidate the molecular and immune complexities of glaucoma, aiming to improve our understanding of its pathogenesis.Methods: Gene expression profiles from glaucoma patients were analyzed to identify immune-related differentially
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Frontiers | Polymorphism rs3733591 of the SLC2A9 gene and metabolic syndrome affect gout risk in Taiwan Biobank subjects Front. Genet. (IF 3.7) Pub Date : 2024-04-03 Chun-Nan Lin, Chien-Chang Ho, Pao-Chun Hsieh, Chih-Hsuan Hsiao, Oswald Ndi Nfor, Yung-Po Liaw
Background:Over the past few decades, gout and diseases like metabolic syndrome (MetS) have become more prevalent. Attempts have been made in Taiwan to identify the genes responsible for gout. A few gene loci, among them SLC2A9, have been identified using Taiwan Biobank (TWB) data. We, therefore, examined whether MetS could also account for the association between polymorphism SLC2A9 rs3733591 and
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Frontiers | Meta-analysis of differential gene expression in lower motor neurons isolated by laser capture microdissection from post-mortem ALS spinal cords Front. Genet. (IF 3.7) Pub Date : 2024-04-03 William R. Swindell
IntroductionALS is a fatal neurodegenerative disease for which underlying mechanisms are incompletely understood. The motor neuron is a central player in ALS pathogenesis but different transcriptome signatures have been derived from bulk analysis of post-mortem tissue and iPSC-derived motor neurons (iPSC-MNs).MethodsThis study performed a meta-analysis of six gene expression studies (microarray and
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Introducing dynamic consent for improved trust and privacy in research involving human biological material and associated data in South Africa Front. Genet. (IF 3.7) Pub Date : 2024-04-03 Larisse Prinsen
Biomedical research using human biological material and data is essential for improving human health, but it requires the active participation of many human volunteers in addition to the distribution of data. As a result, it has raised numerous vexing questions related to trust, privacy and consent. Trust is essential in biomedical research as it relates directly to the willingness of participants
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Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation Front. Genet. (IF 3.7) Pub Date : 2024-04-03 Amy P. Webster, Simone Ecker, Ismail Moghul, Xiaohong Liu, Pawan Dhami, Sarah Marzi, Dirk S. Paul, Michelle Kuxhausen, Stephanie J. Lee, Stephen R. Spellman, Tao Wang, Andrew Feber, Vardhman Rakyan, Karl S. Peggs, Stephan Beck
Allogeneic hematopoietic cell transplantation (HCT) is used to treat many blood-based disorders and malignancies, however it can also result in serious adverse events, such as the development of acute graft-versus-host disease (aGVHD). This study aimed to develop a donor-specific epigenetic classifier to reduce incidence of aGVHD by improving donor selection. Genome-wide DNA methylation was assessed
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Neuronal-specific methylome and hydroxymethylome analysis reveal significant loci associated with alcohol use disorder Front. Genet. (IF 3.7) Pub Date : 2024-04-03 Diego E. Andrade-Brito, Diana L. Núñez-Ríos, José Jaime Martínez-Magaña, Sheila T. Nagamatsu, Gregory Rompala, Lea Zillich, Stephanie H. Witt, Shaunna L. Clark, Maria C. Lattig, Janitza L. Montalvo-Ortiz
Background: Alcohol use disorder (AUD) is a complex condition associated with adverse health consequences that affect millions of individuals worldwide. Epigenetic modifications, including DNA methylation (5 mC), have been associated with AUD and other alcohol-related traits. Epigenome-wide association studies (EWAS) have identified differentially methylated genes associated with AUD in human peripheral
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Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss Front. Genet. (IF 3.7) Pub Date : 2024-04-02
Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant testing
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Chloroplast genomes in seven Lagerstroemia species provide new insights into molecular evolution of photosynthesis genes Front. Genet. (IF 3.7) Pub Date : 2024-04-02
Lagerstroemia indica is an important commercial tree known for the ornamental value. In this study, the complete chloroplast genome sequence of Lagerstroemia indica “Pink Velour” (Lagerstroemia “Pink Velour”) was 152,174 bp in length with a GC content of 39.50%. It contained 85 protein coding genes (PCGs), 37 tRNAs, and 8 rRNA genes. 207 simple sequence repeats (SSRs) and 31 codons with relative synonymous
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Frontiers | Disulfidptosis-related signature elucidates the prognostic, immunologic, and therapeutic characteristics in ovarian cancer Front. Genet. (IF 3.7) Pub Date : 2024-04-02 Yunyan Cong, Guangyao Cai, Chengcheng Ding, Han Zhang, Jieping Chen, Shiwei Luo, Jihong Liu
Introduction:Ovarian cancer (OC) is the deadliest malignancy in gynecology, but the mechanism of its initiation and progression is poorly elucidated. Disulfidptosis is a novel discovered type of regulatory cell death. This study aimed to develop a novel disulfidptosis-related prognostic signature (DRPS) for OC and explore the effects and potential treatment by disulfidptosis-related risk stratification
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Frontiers | Comparative genomics analysis of pheophorbide a oxygenase (PAO) genes in eight pyrus genomes and their regulatory role in multiple stress responses in Chinese pear (Pyrus bretschneideri) Front. Genet. (IF 3.7) Pub Date : 2024-04-02 Yuchen Ma, Jiao Sun, Xiao Zhang, Muhammad Sadaqat, Muhammad Tahir Ul Qamar, Tingting Liu
Pyrus (pear) is among the most nutritious fruits and contains fibers that have great health benefits to humans. It is mostly cultivated in temperate regions globally and is highly subjected to biotic and abiotic stresses which affect its yield. Pheophorbide a oxygenase (PAO) is an essential component of the chlorophyll degradation system and contributes to the senescence of leaves. It is responsible
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Frontiers | Identification and functional analysis of lactic acid metabolism-related differentially expressed genes in hepatocellular carcinoma Front. Genet. (IF 3.7) Pub Date : 2024-04-02 Haiyan Li, Fuchu Qian, Shengjie Bao
Background: Hepatocellular carcinoma (HCC) is a malignant tumor with high morbidity and mortality rate that seriously threatens human health. We aimed to investigate the expression, prognostic value, and immune cell infiltration of lactic acid metabolism-related genes (LAMRGs) in HCC using bioinformatics.Methods: The HCC database (The Cancer Genome Atlas–Liver Hepatocellular Carcinoma) was downloaded
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Chloroplast genomes in seven Lagerstroemia species provide new insights into molecular evolution of photosynthesis genes Front. Genet. (IF 3.7) Pub Date : 2024-04-02 Ling He, Sujuan Xu, Xinnian Cheng, Hanlin Huang, Hongyu Dai, Xin Wang, Zhiyang Ding, Ming Xu, Haoran Gu, Na Yan, Chunyan Wang
Lagerstroemia indica is an important commercial tree known for the ornamental value. In this study, the complete chloroplast genome sequence of Lagerstroemia indica “Pink Velour” (Lagerstroemia “Pink Velour”) was 152,174 bp in length with a GC content of 39.50%. It contained 85 protein coding genes (PCGs), 37 tRNAs, and 8 rRNA genes. 207 simple sequence repeats (SSRs) and 31 codons with relative synonymous
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Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss Front. Genet. (IF 3.7) Pub Date : 2024-04-02 Haemi Choi, Jeong-A. Kim, Kyung-Ok Cho, Hyun Jung Kim, Min-Hyeon Park
Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant testing
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Effect of a probiotic and an antibiotic on the mobilome of the porcine microbiota Front. Genet. (IF 3.7) Pub Date : 2024-03-28 Xavier C. Monger, Linda Saucier, Frédéric Guay, Annie Turcotte, Joanie Lemieux, Eric Pouliot, Sylvain Fournaise, Antony T. Vincent
Introduction: To consider the growing health issues caused by antibiotic resistance from a “one health” perspective, the contribution of meat production needs to be addressed. While antibiotic resistance is naturally present in microbial communities, the treatment of farm animals with antibiotics causes an increase in antibiotic resistance genes (ARG) in the gut microbiome. Pigs are among the most