scholarly journals Influence of allelic variations in relation to norepinephrine and mineralocorticoid receptors on psychopathic traits: a pilot study

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e4528
Author(s):  
Guillaume Durand
Keyword(s):  
Pilot Study ◽  
Short Form ◽  
Saliva Sample ◽  
Psychopathic Traits ◽  
Psychopathic Personality ◽  
Mineralocorticoid Receptors ◽  
Nucleotide Polymorphisms ◽  
Tower Of Hanoi ◽  
Link Type ◽  
Allelic Variations

Background Past findings support a relationship between abnormalities in the amygdala and the presence of psychopathic traits. Among other genes and biomarkers relevant to the amygdala, norepinephrine and mineralocorticoid receptors might both play a role in psychopathy due to their association with traits peripheral to psychopathy. The purpose is to examine if allelic variations in single nucleotide polymorphisms related to norepinephrine and mineralocorticoid receptors play a role in the display of psychopathic traits and executive functions. Methods Fifty-seven healthy participants from the community provided a saliva sample for SNP sampling of rs5522 and rs5569. Participants then completed the Psychopathic Personality Inventory–Short Form (PPI-SF) and the Tower of Hanoi. Results Allelic variations of both rs5522 and rs5569 were significant when compared to PPI-SF total score and the fearless dominance component of the PPI-SF. A significant result was also obtained between rs5522 and the number of moves needed to complete the 5-disk Tower of Hanoi. Conclusion This pilot study offers preliminary results regarding the effect of allelic variations in SNPs related to norepinephrine and mineralocorticoid receptors on the presence of psychopathic traits. Suggestions are provided to enhance the reliability and validity of a larger-scale study.

Are Psychopathic Traits Associated with Core Social Networks? An Exploratory Study in University Students

2020 ◽  
Vol 83 (4) ◽  
pp. 423-442
Author(s):  
Kylie S. Reale ◽  
Martin Bouchard ◽  
Yan L. Lim ◽  
Alana N. Cook ◽  
Stephen D. Hart
Keyword(s):  
Social Networks ◽  
University Students ◽  
Emotional Regulation ◽  
Short Form ◽  
Preliminary Evidence ◽  
Psychopathic Traits ◽  
Psychopathic Personality ◽  
Core Networks ◽  
Psychopathic Personality Inventory ◽  
Deliberate Strategy

In a sample of 480 university students, we examined associations between self-ratings of psychopathic traits, made using the Comprehensive Assessment of Psychopathic Personality (CAPP), the Psychopathic Personality Inventory: Short Form (PPI: SF), and self-ratings of the structure of their core social networks (i.e., best friends, intimates). Results indicated that higher self-ratings of domains (CAPP) and subscales (PPI: SF) related to interpersonal dominance, manipulation, poor attachment, and emotional regulation were associated with less connected core networks. We interpret the dominance and manipulation domain and subscale findings as preliminary evidence of a deliberate strategy to provide a more influential position within one’s social network. As for the associations with the attachment and emotional regulation domain and subscale findings, we suggest this could be reflective of deficits or a lack of desire both in establishing and maintaining long-term relationships.

scholarly journals An open-label, pilot study of veliparib and lapatinib in patients with metastatic, triple-negative breast cancer

2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Erica M. Stringer-Reasor ◽  
Jori E. May ◽  
Eva Olariu ◽  
Valerie Caterinicchia ◽  
Yufeng Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Dna Repair ◽  
Pilot Study ◽  
Expression Analysis ◽  
Triple Negative Breast Cancer ◽  
Gene Expression Analysis ◽  
Triple Negative ◽  
Egfr Inhibition ◽  
Link Type

Abstract Background Poly (ADP-ribose)-polymerase inhibitors (PARPi) have been approved for cancer patients with germline BRCA1/2 (gBRCA1/2) mutations, and efforts to expand the utility of PARPi beyond BRCA1/2 are ongoing. In preclinical models of triple-negative breast cancer (TNBC) with intact DNA repair, we have previously shown an induced synthetic lethality with combined EGFR inhibition and PARPi. Here, we report the safety and clinical activity of lapatinib and veliparib in patients with metastatic TNBC. Methods A first-in-human, pilot study of lapatinib and veliparib was conducted in metastatic TNBC (NCT02158507). The primary endpoint was safety and tolerability. Secondary endpoints were objective response rates and pharmacokinetic evaluation. Gene expression analysis of pre-treatment tumor biopsies was performed. Key eligibility included TNBC patients with measurable disease and prior anthracycline-based and taxane chemotherapy. Patients with gBRCA1/2 mutations were excluded. Results Twenty patients were enrolled, of which 17 were evaluable for response. The median number of prior therapies in the metastatic setting was 1 (range 0–2). Fifty percent of patients were Caucasian, 45% African–American, and 5% Hispanic. Of evaluable patients, 4 demonstrated a partial response and 2 had stable disease. There were no dose-limiting toxicities. Most AEs were limited to grade 1 or 2 and no drug–drug interactions noted. Exploratory gene expression analysis suggested baseline DNA repair pathway score was lower and baseline immunogenicity was higher in the responders compared to non-responders. Conclusions Lapatinib plus veliparib therapy has a manageable safety profile and promising antitumor activity in advanced TNBC. Further investigation of dual therapy with EGFR inhibition and PARP inhibition is needed. Trial registration ClinicalTrials.gov, NCT02158507. Registered on 12 September 2014

scholarly journals The Influence of Genetics in Myopia Control: A Pilot Study

2021 ◽  
Vol 10 (4) ◽  
pp. 808
Author(s):  
Cristina Alvarez-Peregrina ◽  
Miguel Ángel Sánchez-Tena ◽  
Clara Martinez-Perez ◽  
Catalina Santiago-Dorrego ◽  
Thomas Yvert ◽  
...  
Keyword(s):  
Pilot Study ◽  
Treatment Response ◽  
Axial Length ◽  
Contact Lenses ◽  
Control Method ◽  
Saliva Sample ◽  
Experimental Studies ◽  
Strong Linkage Disequilibrium ◽  
Student’S T ◽  
Myopia Control

Background: Many epidemiological and experimental studies have established that myopia is caused by a complex interaction between common genetic and environmental factors. The objective of this study was to describe and compare the allelic and genotypic frequencies of the rs524952 (GJD2), rs8000973 (ZIC2), rs1881492 (CHRNG), rs1656404 (PRSS56), rs235770 (BMP2), and rs7744813 (KCNQ5) SNPs (single-nucleotide polymorphism) between responder and nonresponder patients who had undergone a two-year treatment with lenses for myopia control. Method: Twenty-eight participants from the MiSight Assessment Study Spain (MASS), who had received treatment for myopia control for two years with MiSight contact lenses, were examined. The criteria for better/worse treatment response was the change in the axial length (< / ≥ 0.22 mm two years after the treatment). The clinical procedure consisted of the extraction of a saliva sample, and the participants also underwent an optometric examination. Genetic data were analyzed using SNPStats software (Catalan Institute of Oncology, Barcelona, Spain), and statistical analysis was performed using SPSS v.25 (SPSS Inc., Chicago, IL, USA). Demographic variables were analyzed using the Student’s t-test. Results: The T allele, the one with the lowest frequency, of the “rs235770” SNP was associated with a better treatment response [AL/CR (axial length/corneal radius): OR = 3.37; CI = 1.079–10.886; SE (spherical equivalent): OR = 1.26; CI: = 0.519–57.169; p = 0.019). By performing haplotype analysis, significant differences were found between the rs235770…rs1881492 and rs235770–rs1656404 polymorphisms. The latter presented a strong linkage disequilibrium with each other (r2 ≥ 0.54). Conclusion: The result of lens therapies for myopia control could vary depending on genetic variants. Studies with a larger sample are needed to confirm the results presented in this pilot study.

Candidate Genes of the 5-Lipoxygenase Pathway in Acute Coronary Syndrome: A Pilot Study

2008 ◽  
Vol 9 (4) ◽  
pp. 280-292 ◽  
Author(s):  
Shu-Fen Wung ◽  
Bradley E. Aouizerat
Keyword(s):  
Acute Coronary Syndrome ◽  
Pilot Study ◽  
Nucleotide Polymorphisms ◽  
Common Allele ◽  
Lipoxygenase Pathway ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Increased Risk ◽  
Caucasian Patients ◽  
Alox5ap Gene

Purpose. The purpose of this pilot study was to examine arachidonate 5-lipoxygenase (ALOX5) and ALOX5-activating protein (ALOX5AP) gene variations in patients with and without acute coronary syndrome (ACS). Methodology. Four and six single nucleotide polymorphisms spanning the ALOX5 and ALOX5AP genes, respectively, were genotyped in 19 non-Hispanic Caucasian patients with ACS and 27 controls. Results. Presence of the common allele of rs9508835 (ALOX5AP) and the minor allele of rs2029253 (ALOX5) were associated with ACS. After adjustment for age, being a carrier of the rs9508835 common allele was associated with an increased risk of ACS (odds ratio = 2.86). Relevance for nursing practice. Through the inhibition of the ALOX5AP gene by downregulation of the leukotriene pathway, the risk of ACS may be decreased in individuals that carry susceptibility allele(s). Knowledge of the genetic basis of treatments that downregulate the leukotriene pathway may prove essential to the care of individuals with ACS.

VicRK and CovR polymorphisms in Streptococcus mutans strains associated with cardiovascular infections

2021 ◽  
Vol 70 (12) ◽  
Author(s):  
Letícia T. Oliveira ◽  
Lívia A. Alves ◽  
Erika N. Harth-Chu ◽  
Ryota Nomura ◽  
Kazuhiko Nakano ◽  
...  
Keyword(s):  
Streptococcus Mutans ◽  
Type Species ◽  
Virulence Gene ◽  
Common Species ◽  
Oral Microbiome ◽  
Nucleotide Polymorphisms ◽  
Content Type ◽  
Virulence Gene Expression ◽  
Coding Regions ◽  
Link Type

Introduction. Streptococcus mutans , a common species of the oral microbiome, expresses virulence genes promoting cariogenic dental biofilms, persistence in the bloodstream and cardiovascular infections. Gap statement. Virulence gene expression is variable among S. mutans strains and controlled by the transcription regulatory systems VicRK and CovR. Aim. This study investigates polymorphisms in the vicRK and covR loci in S. mutans strains isolated from the oral cavity or from the bloodstream, which were shown to differ in expression of covR, vicRK and downstream genes. Methodology. The transcriptional activities of covR, vicR and vicK were compared by RT-qPCR between blood and oral strains after exposure to human serum. PCR-amplified promoter and/or coding regions of covR and vicRK of 18 strains (11 oral and 7 blood) were sequenced and compared to the reference strain UA159. Results. Serum exposure significantly reduced covR and vicR/K transcript levels in most strains (P<0.05), but reductions were higher in oral than in blood strains. Single-nucleotide polymorphisms (SNPs) were detected in covR regulatory and coding regions, but SNPs affecting the CovR effector domain were only present in two blood strains. Although vicR was highly conserved, vicK showed several SNPs, and SNPs affecting VicK regions important for autokinase activity were found in three blood strains. Conclusions. This study reveals transcriptional and structural diversity in covR and vicR/K, and identifies polymorphisms of functional relevance in blood strains, indicating that covR and vicRK might be important loci for S. mutans adaptation to host selective pressures associated with virulence diversity.

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