scholarly journals Single nucleotide polymorphisms within the cps loci: another potential source of clinically important genetic variation for Streptococcus pneumoniae ?

2021 ◽  
Author(s):  
Jeremy S. Brown
Keyword(s):  
Streptococcus Pneumoniae ◽  
Nucleotide Polymorphisms ◽  
Disease Pathogenesis ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Synonymous Snps ◽  
Host Interactions ◽  
Potential Source ◽  
Functional Consequences ◽  
Nucleotide Sugars

The Streptococcus pneumoniae capsule is essential for disease pathogenesis, suggesting that even minor genetic changes within the cps locus could potentially have important consequences. Arends et al. have identified 79 different non-synonymous SNPs in the cps locus of 338 19A serotype strains, and shown significant variations between strains in nucleotide sugars content and capsule shedding. Further work is required to characterise whether any of these changes have important functional consequences on capsule/host interactions.

scholarly journals Genome-Wide Analysis of the Temporal Genetic Changes in Streptococcus pneumoniae Isolates of Genotype ST320 and Serotype 19A from South Korea

2021 ◽  
Vol 9 (4) ◽  
pp. 795
Author(s):  
Jin Yang Baek ◽  
Sun Ju Kim ◽  
Juyoun Shin ◽  
Yeun-Jun Chung ◽  
Cheol-In Kang ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
South Korea ◽  
Point Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Changes ◽  
Genome Wide Analysis ◽  
Reference Isolate ◽  
Genome Wide ◽  
A Genome

Since the introduction of the pneumococcal conjugate vaccine, an increase in the incidence of Streptococcus pneumoniae serotype 19A and sequence type 320 (19A-ST320) isolates have been observed worldwide including in South Korea. We conducted a genome-wide analysis to investigate the temporal genetic changes in 26 penicillin-non-susceptible 19A-ST320 pneumococcal isolates from a hospital in South Korea over a period of 17 years (1999; 2004 to 2015). Although the strains were isolated from a single hospital and showed the same genotype and serotype, a whole-genome sequencing (WGS) analysis revealed that the S. pneumoniae isolates showed more extensive genetic variations compared with a reference isolate obtained in 1999. A phylogenetic analysis based on single nucleotide polymorphisms (SNPs) showed that the pneumococcal isolates from South Korea were not grouped together into limited clusters among the 19A-ST320 isolates from several continents. It was predicted that recombination events occurred in 11 isolates; larger numbers of SNPs were found within recombination blocks compared with point mutations identified in five isolates. WGS data indicated that S. pneumoniae 19A-ST320 isolates might have been introduced into South Korea from various other countries. In addition, it was revealed that recombination may play a great role in the evolution of pneumococci even in very limited places and periods.

scholarly journals TNF-αPolymorphisms in Juvenile Idiopathic Arthritis: Which Potential Clinical Implications?

2012 ◽  
Vol 2012 ◽  
pp. 1-16 ◽  
Author(s):  
A. Scardapane ◽  
L. Breda ◽  
M. Lucantoni ◽  
F. Chiarelli
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Large Scale ◽  
Nucleotide Polymorphisms ◽  
Necrosis Factor Alpha ◽  
Single Nucleotide ◽  
Adult Rheumatoid Arthritis ◽  
Functional Consequences ◽  
Factor Alpha ◽  
Necrosis Factor ◽  
Important Cytokine

Whether tumor necrosis factor alpha (TNF-α) gene polymorphisms (SNPs) influence disease susceptibility and treatment of patients with juvenile idiopathic arthritis (JIA) is presently uncertain. TNF-αis one of the most important cytokine involved in JIA pathogenesis. Several single nucleotide polymorphisms (SNPs) have been identified within the region of the TNF-αgene but only a very small minority have proven functional consequences and have been associated with susceptibility to JIA. An association between some TNF-αSNPs and adult rheumatoid arthritis (RA) susceptibility, severity and clinical response to anti-TNF-αtreatment has been reported. The most frenquetly studied TNF-αSNP is located at −308 position, where a substitution of the G allele with the rare A allele has been found. The presence of the allele −308A is associated to JIA and to a poor prognosis. Besides, the −308G genotype has been associated with a better response to anti-TNF-αtherapy in JIA patients, confirming adult data. Psoriatic and oligoarticular arthritis are significantly associated to the −238 SNP only in some works. Studies considering other SNPs are conflicting and inconclusive. Large scale studies are required to define the contribution of TNF-αgene products to disease pathogenesis and anti-TNF-αtherapeutic efficacy in JIA.

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.

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 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.

A Nationwide Outbreak of Invasive Pneumococcal Disease in Israel Caused by Streptococcus Pneumoniae Serotype 2

2020 ◽  
Author(s):  
Ron Dagan ◽  
Shalom Ben-Shimol ◽  
Rachel Benisty ◽  
Gili Regev-Yochay ◽  
Stephanie W Lo ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
Invasive Pneumococcal Disease ◽  
Pneumococcal Disease ◽  
Large Scale ◽  
Evolutionary Dynamics ◽  
Fold Increase ◽  
Population Based ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Single Locus Variant

Abstract Background Invasive pneumococcal disease (IPD) caused by Streptococcus pneumoniae serotype 2 (Sp2) is infrequent. Large scale outbreaks have not been reported following pneumococcal conjugate vaccine (PCV) implementation. We describe a Sp2 IPD outbreak in Israel, in the 13-valent PCV (PCV13) era, with focus on Sp2 population structure and evolutionary dynamics. Methods The data derived from a population-based, nationwide active surveillance of IPD since 2009. 7-valent PCV (PCV7)/PCV13 vaccines were introduced in July 2009 and November 2010, respectively. Sp2 isolates were tested for antimicrobial susceptibility, Multilocus Sequence Typing (MLST) and Whole Genome Sequencing (WGS) analysis. Results Overall, 170 Sp2 IPD cases were identified during 2009-2019; Sp2 increased in 2015 and caused 6% of IPD during 2015-2019, a 7-fold increase compared with 2009-2014. The outbreak was caused by a previously unreported molecular type (ST-13578), initially observed in Israel in 2014. This clone caused 88% of Sp2 during 2015-2019. ST-13578 is a single-locus variant of ST-1504, previously reported globally, including in Israel. WGS analysis confirmed clonality among the ST-13578 population. Single-nucleotide polymorphisms-dense regions support a hypothesis that the ST-13578 outbreak clone evolved from ST-1504 by recombination. All tested strains were penicillin-susceptible (MIC <0.06 μg/mL). The ST-13578 clone was identified almost exclusively (99%) in the Jewish population and was mainly distributed in 3/7 Israeli districts. The outbreak is still ongoing, although declining since 2017. Conclusions: To the best of our knowledge, this is the first widespread Sp2 outbreak since PCV13 introduction worldwide, caused by the emerging ST-13578 clone.

scholarly journals Effect of leukemia inhibitory factor polymorphism on litter size traits in Thai commercial pig breeds

2020 ◽  
Vol 19 (2) ◽  
pp. 185-196
Author(s):  
Worrarak Norseeda ◽  
◽  
Guisheng Liu ◽  
Tawatchai Teltathum ◽  
Korawan Sringarm ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Litter Size ◽  
Leukemia Inhibitory Factor ◽  
Inhibitory Factor ◽  
Untranslated Regions ◽  
Nucleotide Polymorphisms ◽  
Large White ◽  
Single Nucleotide ◽  
Synonymous Snps ◽  
Implantation Process

Leukemia inhibitory factor (LIF) is a crucial candidate gene that impacts on implantation process. In this study, the effects of the porcine LIF polymorphism on litter size traits were elucidated in Thai commercial pig populations. Genotyping of three single nucleotide polymorphisms (SNPs) of the porcine LIF gene was detected in coding and 3ˊ-untranslated regions. The porcine LIF c.*24C>T was segregating in Large White, Landrace, and Large White × Landrace (LW × LR) crossbred sows. No polymorphisms at two non-synonymous SNPs loci (LIF c.28C>A and LIF c.161A>G) were found in this study. The porcine LIF c.*24C>T was significantly associated with the total number born (TNB), the number born alive (NBA), and the number of piglets weaned alive (NWA) traits in Large White and Landrace sows. Moreover, the porcine LIF c.*24C>T was associated with the NBA and NWA traits in LW × LR crossbred sows. The favorable LIF c.*24C allele was positively correlated with the litter size traits. These findings indicated that the polymorphism of the porcine LIF gene was associated with litter size traits and confirms the significance of porcine LIF as a candidate gene for litter size traits in pig breeding. Thus, the porcine LIF gene could be used for improving prolific traits in these Thai commercial pig populations.

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