scholarly journals The Genetic Changes of Hepatoblastoma

2021 ◽  
Vol 11 ◽  
Author(s):  
Huitong Chen ◽  
Qian Guan ◽  
Huiqin Guo ◽  
Lei Miao ◽  
Zhenjian Zhuo
Keyword(s):  
Nucleotide Polymorphisms ◽  
Genetic Syndromes ◽  
Disease Treatment ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Future Studies ◽  
The Past ◽  
Malignant Liver ◽  
Genetic Events ◽  
Made In

Hepatoblastoma is the most common malignant liver cancer in childhood. The etiology of hepatoblastoma remains obscure. Hepatoblastoma is closely related to genetic syndromes, hinting that hepatoblastoma is a genetic predisposition disease. However, no precise exposures or genetic events are reported to hepatoblastoma occurrence. During the past decade, significant advances have been made in the understanding of etiology leading to hepatoblastoma, and several important genetic events that appear to be important for the development and progression of this tumor have been identified. Advances in our understanding of the genetic changes that underlie hepatoblastoma may translate into better patient outcomes. Single nucleotide polymorphisms (SNPs) have been generally applied in the research of etiology’s exploration, disease treatment, and prognosis assessment. Here, we reviewed and discussed the molecular epidemiology, especially SNPs progresses in hepatoblastoma, to provide references for future studies and promote the study of hepatoblastoma’s etiology.

scholarly journals Meta-Analysis of 125 Rheumatoid Arthritis-Related Single Nucleotide Polymorphisms Studied in the Past Two Decades

PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e51571 ◽  
Author(s):  
Yongshuai Jiang ◽  
Ruijie Zhang ◽  
Jiajia Zheng ◽  
Panpan Liu ◽  
Guoping Tang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
The Past

scholarly journals Strains of Escherichia coli O157:H7 Differ Primarily by Insertions or Deletions, Not Single-Nucleotide Polymorphisms

2002 ◽  
Vol 184 (7) ◽  
pp. 1873-1879 ◽  
Author(s):  
Indira T. Kudva ◽  
Peter S. Evans ◽  
Nicole T. Perna ◽  
Timothy J. Barrett ◽  
Frederick M. Ausubel ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Single Nucleotide Polymorphisms ◽  
Epidemiological Surveillance ◽  
Escherichia Coli O157 ◽  
Nucleotide Polymorphisms ◽  
Strain Variation ◽  
Single Nucleotide ◽  
E Coli ◽  
K 12 ◽  
Genetic Events

ABSTRACT Escherichia coli O157:H7 (O157) strains demonstrate varied pulsed-field gel electrophoresis patterns following XbaI digestion, which enable epidemiological surveillance of this important human pathogen. The genetic events underlying PFGE differences between strains, however, are not defined. We investigated the mechanisms for strain variation in O157 by recovering and examining nucleotide sequences flanking each of the XbaI restriction enzyme sites in the genome. Our analysis demonstrated that differences between O157 strains were due to discrete insertions or deletions that contained the XbaI sites polymorphic between strains rather than single-nucleotide polymorphisms in the XbaI sites themselves. These insertions and deletions were found to be uniquely localized within the regions of the genome that are specific to O157 compared to E. coli K-12 (O islands), suggesting that strain-to-strain variation occurs in these O islands. These results may be utilized to devise novel strain-typing tools for this pathogen.

Retrospective study assessing the association of single nucleotide polymorphisms in VEGFR3 and on-target toxicity in patients with advanced renal-cell carcinoma (RCC) treated with sunitinib.

2014 ◽  
Vol 32 (4_suppl) ◽  
pp. 537-537
Author(s):  
Jf. Rodriguez-Moreno ◽  
Emilio Esteban ◽  
Luis Javier Leandro-García ◽  
Daniel E. Castellano ◽  
Aranzazu Gonzalez del Alba ◽  
...  
Keyword(s):  
Kinase Inhibitors ◽  
Kinase Inhibitor ◽  
Nucleotide Polymorphisms ◽  
Secondary Effects ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
First Line Therapy ◽  
Study Results ◽  
Antiangiogenic Drugs ◽  
Grade Ii

537 Background: Sunitinib is a tyrosine kinase inhibitor approved as first line therapy of RCC. Some Adverse Events (AEs) of sunitinib are due to its inhibition of VEGFR and could be considered as “on-target” toxicity. They are a class-effects and have been observed even with the most selective antiangiogenic drugs. We aimed to correlate such secondary effects with germline SNPs in VEGFR3. Methods: In order to define “on target ” toxicity we considered any AEs ≥ Grade II (CTCAE 4.0) recorded in more than 10% of the patients included the pivotal studies of axitinib and tivozanib (the most selective tyrosin kinase inhibitors targeting VEGF(R). We assessed associations between polymorphisms in VEGFR3 and on-target toxicity for patients with advanced RCC treated with sunitinib prospectively included in the SUTRENT Study. Results: Polymorphisms in VEGFR3 are associated with less on-target toxicity. Probably these genetic changes confer a reduced susceptibility to the action of sunitinib. This could explain, at least partially, the worse outcome showed in this population. Conclusions: Polymorphisms in VEGFR3 are associated with less on-target toxicity. Probably these genetic changes confer a reduced susceptibility to the action of sunitinib. This could explain, at least partially, the worse outcome showed in this population.

Cytosine, but not adenine, base editors induce genome-wide off-target mutations in rice

Science ◽  
2019 ◽  
pp. eaaw7166 ◽  
Author(s):  
Shuai Jin ◽  
Yuan Zong ◽  
Qiang Gao ◽  
Zixu Zhu ◽  
Yanpeng Wang ◽  
...  
Keyword(s):  
High Fidelity ◽  
Single Nucleotide Variants ◽  
Disease Treatment ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Base Editing ◽  
Guide Rna ◽  
Genome Wide ◽  
Adenine Base

Cytosine and adenine base editors (CBEs and ABEs) are promising new tools for achieving the precise genetic changes required for disease treatment and trait improvement. However, genome-wide and unbiased analyses of their off-target effects in vivo are still lacking. Our whole genome sequencing (WGS) analysis of rice plants treated with BE3, high-fidelity BE3 (HF1-BE3), or ABE revealed that BE3 and HF1-BE3, but not ABE, induce substantial genome-wide off-target mutations, which are mostly the C→T type of single nucleotide variants (SNVs) and appear to be enriched in genic regions. Notably, treatment of rice with BE3 or HF1-BE3 in the absence of single-guide RNA also results in the rise of genome-wide SNVs. Thus, the base editing unit of BE3 or HF1-BE3 needs to be optimized in order to attain high fidelity.

scholarly journals Associations between Genotype–Diet Interactions and Weight Loss—A Systematic Review

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2891
Author(s):  
Sandra Bayer ◽  
Vincent Winkler ◽  
Hans Hauner ◽  
Christina Holzapfel
Keyword(s):  
Weight Loss ◽  
Literature Search ◽  
Treatment Success ◽  
Systematic Literature Search ◽  
Fat Intake ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Main Determinant ◽  
Future Studies ◽  
Special Groups

Studies on the interactions between single nucleotide polymorphisms (SNPs) and macronutrient consumption on weight loss are rare and heterogeneous. This review aimed to conduct a systematic literature search to investigate genotype–diet interactions on weight loss. Four databases were searched with keywords on genetics, nutrition, and weight loss (PROSPERO: CRD42019139571). Articles in languages other than English and trials investigating special groups (e.g., pregnant women, people with severe diseases) were excluded. In total, 20,542 articles were identified, and, after removal of duplicates and further screening steps, 27 articles were included. Eligible articles were based on eight trials with 91 SNPs in 63 genetic loci. All articles examined the interaction between genotype and macronutrients (carbohydrates, fat, protein) on the extent of weight loss. However, in most cases, the interaction results were not significant and represented single findings that lack replication. The publications most frequently analyzed genotype–fat intake interaction on weight loss. Since the majority of interactions were not significant and not replicated, a final evaluation of the genotype–diet interactions on weight loss was not possible. In conclusion, no evidence was found that genotype–diet interaction is a main determinant of obesity treatment success, but this needs to be addressed in future studies.

scholarly journals Thr92Ala Polymorphism of Human Type 2 Deiodinase Gene (hD2) Affects the Development of Graves' Disease, Treatment Efficiency, and Rate of Remission

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Babenko Alina ◽  
Popkova Daria ◽  
Freylihman Olga ◽  
Solncev Vladislav ◽  
Kostareva Anna ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Graves Disease ◽  
Disease Development ◽  
Nucleotide Polymorphisms ◽  
Treatment Efficiency ◽  
Disease Treatment ◽  
Single Nucleotide

Clinical symptoms vary in thyrotoxicosis, and severity of these depends on many factors. Over the last years, impact of genetic factors upon the development and clinical significance of thyrotoxic symptoms became evident. It is known that a production of T3 in various tissues is limited by deiodinase 2 (D2). Recent studies revealed that certain single nucleotide polymorphisms (including threonine (Thr) to alanine (Ala) replacement in D2 gene codon 92, D2 Thr92Ala) affect T3 levels in tissues and in serum. Individuals with Ala92Ala genotype have lower D2 activity in tissues, compared with that in individuals with other genotypes. In our study, we have assessed an association of D2 Thr92Ala polymorphism with (1) frequency of disease development, (2) severity of clinical symptoms of thyrotoxicosis, and (3) rate of remissions, in Graves' disease patients.

scholarly journals Bioavailability of Fat-Soluble Vitamins and Phytochemicals in Humans: Effects of Genetic Variation

2018 ◽  
Vol 38 (1) ◽  
pp. 69-96 ◽  
Author(s):  
Patrick Borel ◽  
Charles Desmarchelier
Keyword(s):  
Interindividual Variability ◽  
Ethnic Origin ◽  
Nucleotide Polymorphisms ◽  
Phenotypic Effect ◽  
Intestinal Uptake ◽  
Single Nucleotide ◽  
Future Studies ◽  
Or Groups ◽  
Fat Soluble Vitamins ◽  
Β Carotene

Recent data have shown that interindividual variability in the bioavailability of vitamins A (β-carotene), D, and E, and carotenoids (lutein and lycopene), as well as that of phytosterols, is modulated by single nucleotide polymorphisms (SNPs). The identified SNPs are in or near genes involved in intestinal uptake or efflux of these compounds, as well as in genes involved in their metabolism and transport. The phenotypic effect of each SNP is usually low, but combinations of SNPs can explain a significant part of the variability. Nevertheless, results from these studies should be considered preliminary since they have not been validated in other cohorts. Guidelines for future studies are provided to ensure that sound associations are elucidated that can be used to build consolidated genetic scores that may allow recommended dietary allowances to be tailored to individuals or groups by taking into account the multiloci genotypic signature of people of different ethnic origin or even of individuals.

Molecular characterisation of the ORF68 region of equine herpesvirus-1 strains isolated from aborted fetuses in Hungary between 1977 and 2008

2012 ◽  
Vol 60 (1) ◽  
pp. 175-187 ◽  
Author(s):  
Péter Malik ◽  
Ádám Bálint ◽  
Ádám Dán ◽  
Vilmos Pálfi
Keyword(s):  
Molecular Characterisation ◽  
Equine Herpesvirus ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Equine Herpesvirus 1 ◽  
Special Attribute ◽  
Grouping Method ◽  
Herpesvirus 1 ◽  
Set Up ◽  
Made In

Equine herpesvirus-1 (EHV-1) can be classified into distinct groups by single nucleotide polymorphisms (SNPs) in their genomes. Only a few of these can be associated with a special attribute of the virus. Differences in the ORF30 region can determine the neuropathogenic potential, while by substitutions in the ORF68 region several strain groups can be made. In previous studies no connection was found between the neuropathogenic potential and the SNPs in ORF68, but the occurrence of members of distinct groups in different outbreaks can facilitate epidemiological investigations because the geographical distribution of a particular group is very often specific. The present study aimed at the molecular examination and grouping of 35 EHV-1 strains isolated from aborted equine fetuses in Hungary between 1977 and 2008. Genotyping was based on the comparison of nucleotide sequences of a polymorphic segment located in the ORF68 region, which had previously been found to be a useful tool for classification. After sequencing this region, the Hungarian EHV-1 isolates could be classified into seven groups. Only 23 of the 35 isolates belonged to the formerly described groups, while the SNPs of 12 isolates diverged, and four new groups could be set up. In addition, phylogenetic analysis was performed to compare the ORF68 sequences of the Hungarian strains with the sequences of isolates from Europe, America and Australia. The number of newly formed groups suggests that the further analysis of unknown EHV-1 isolates would involve the emergence of extended numbers of new groups, which can impair the usability of this grouping method.

scholarly journals Peripheral Interleukin-1β Levels are Elevated in Chronic Tension-Type Headache Patients

2013 ◽  
Vol 18 (6) ◽  
pp. 301-306 ◽  
Author(s):  
Chris Della Vedova ◽  
Stuart Cathcart ◽  
Alan Dohnalek ◽  
Vanessa Lee ◽  
Mark R Hutchinson ◽  
...  
Keyword(s):  
Empirical Studies ◽  
Tension Type Headache ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Chronic Tension Type Headache ◽  
Immune Mediators ◽  
Cytokine Levels ◽  
Healthy Control ◽  
Type Headache

BACKGROUND: Tension-type headache is the most common form of headache and its chronic form, chronic tension-type headache (CTTH), is one of the most difficult to treat. The etiology of CTTH is not well understood, but is believed to be multifactorial and to vary among individuals. In the present study, the authors sought to identify common mechanisms of CTTH pathology. Empirical studies have implicated various immunomodulatory cytokines as mediators of chronic pain disorders, including CTTH.OBJECTIVES: To determine the role of peripheral cytokines and genetic factors in the development of CTTH.METHODS: A panel of cytokines hypothesized to play a role in the pathogenesis of CTTH was measured using cytometric bead arrays and ELISAs in 56 individuals with CTTH and 42 healthy control participants between 18 and 65 years of age.RESULTS: Levels of interleukin (IL)-1β were significantly elevated in participants diagnosed with CTTH relative to healthy controls, while IL-18 levels were found to be significantly elevated in men with CTTH. Because the levels of these immune mediators were increased in the apparent absence of injury or infection, the authors sought to determine whether genetic changes were responsible for fluctuations in cytokine levels. Polymerase chain reaction and restriction fragment length polymorphism analyses were used to determine individual genotypes at key single nucleotide polymorphism positions in theIL-1Bgene. No association was observed between CTTH and single nucleotide polymorphisms in the IL-1β gene.CONCLUSIONS: These findings suggest that increases in key proinflammatory cytokine levels are associated with CTTH and the pathology of the disorder involves sterile neurovascular inflammation.

scholarly journals PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Valquiria Quinelato ◽  
Letícia Ladeira Bonato ◽  
Alexandre Rezende Vieira ◽  
José Mauro Granjeiro ◽  
Karla Menezes ◽  
...  
Keyword(s):  
Temporomandibular Disorders ◽  
Muscle Development ◽  
Masticatory Muscles ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Muscle Stem Cells ◽  
Homozygous Genotype ◽  
Control Study

Abstract Background Temporomandibular disorders (TMD) are a group of painful and debilitating disorders, involving the masticatory muscles and/or the temporomandibular joint (TMJ). Chronic TMD pain can be associated with genetic changes in the key muscle development genes. Objective To evaluate the association between polymorphisms in the PAX7 (paired box 7) gene and masticatory myalgia in patients with temporomandibular disorders (TMD). Materials and methods This is a case-control study. Patients with TMD were divided into two groups: (a) presence of muscular TMD (n = 122) and (b) absence of muscular TMD (n = 49). Genomic DNA was obtained from saliva samples from all participants to allow for genotyping single nucleotide polymorphisms in PAX7 (rs766325 and rs6659735). Over-representation of alleles was tested using chi-square or Fisher’s exact tests. Values of p < 0.05 were considered to be statistically significant. Results Individuals without muscular TMD were less likely to have the PAX7 rs6659735 GG genotype (p = 0.03). No associations were found for PAX7 rs766325. Conclusions Alterations in PAX7 may influence muscular pathophysiology and individuals with TMD and the rs6659735 homozygous genotype (GG) are seemingly associated with muscular involvement of the disorder. No associations were found in the region rs766325.

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