scholarly journals Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1482
Author(s):  
Line K. M. Lybech ◽  
Marco Calabró ◽  
Silvana Briuglia ◽  
Antonio Drago ◽  
Concetta Crisafulli
Keyword(s):  
Pathway Analysis ◽  
Individual Risk ◽  
Worth Living ◽  
Present Contribution ◽  
Molecular Pathway ◽  
Molecular Events ◽  
Genome Wide ◽  
Significant Enrichment ◽  
The Individual ◽  
Suicide Behaviors

Suicide in Bipolar Disorder (BD) is a relevant clinical concern. Genetics may shape the individual risk for suicide behavior in BD, together with known clinical factors. The lack of consistent replication in BD may be associated with its multigenetic component. In the present contribution we analyzed a sample of BD individuals (from STEP-BD database) to identify the genetic variants potentially associated with three different suicide-related phenotypes: 1) a feeling that the life was not worth living; 2) fantasies about committing a violent suicide; 3) previous attempted suicide. The sample under analysis included 1115 BD individuals. None of the SNPs reached genome-wide significance. However, a trend of association was evidenced for rs2767403, an intron variant of AOPEP gene, in association with phenotype #1 (p = 5.977 × 10−6). The molecular pathway analysis showed a significant enrichment in all the investigated phenotypes on pathways related to post synaptic signaling, neurotransmission and neurodevelopment. Further, NOTCH signaling or the γ-aminobutyric acid (GABA) -ergic signaling were found to be associated with specific suicide-related phenotypes. The present investigation contributes to the hypothesis that the genetic architecture of suicide behaviors in BD is related to alteration of entire pathways rather than single genes. In particular, our molecular pathway analysis points on some specific molecular events that could be the focus of further research in this field.

Insight Gained from Genome-wide Interaction and Enrichment Analysis on Weight Gain During Citalopram Treatment

2017 ◽  
Vol 41 (S1) ◽  
pp. S163-S163
Author(s):  
H. Corfitsen ◽  
A. Drago
Keyword(s):  
Weight Gain ◽  
Myogenic Differentiation ◽  
Antidepressant Treatment ◽  
Enrichment Analysis ◽  
Molecular Pathways ◽  
Present Contribution ◽  
White Adipocyte ◽  
Antidepressant Treatments ◽  
Molecular Events ◽  
Genome Wide

IntroductionWeight gain is a side effect of pharmacological antidepressant treatments, causing a poorer compliance, increasing the risk of metabolic syndrome and periods of untreated disease.ObjectivesThe ability to precisely prescribe pharmacological treatments based on personal genetic makeups would increase the quality of the current antidepressant treatments.AimsThe molecular pathways enriched during citalopram induced weight gain are identified.Methods643 depressed citalopram treated individuals with available clinical and genome-wide genetic information were investigated in the present contribution in order to identify the molecular pathways that holds the key to weight gain. Statistics were conducted in R environment (Bioconductor and Reactome packages), ANOVA and MANCOVA served when appropriate. Plink was used for genetic analysis in a linux environment.ResultsOne hundred and eleven individuals had their weight increased after treatment with citalopram. The axon guidance (P. adjust = 0.005) and the developmental biology pathway (P. adjust = 0.01) were found to be enriched in genetic variations associated with weight gain.ConclusionsThe development biology pathway includes molecular cascades involved in the regulation of beta-cell development, and the transcriptional regulation of white adipocyte differentiation. A number of variations were harboured by genes whose products are involved in the synthesis of collagen (COL4A3, COL5A1 and ITGA1), activity of the thyroid-hormones (NCOR1 and NCOR2), energy metabolism (ADIPOQ, PPARGC1A) and myogenic differentiation (CDON). A molecular pathway analysis conducted in a sample of depressed patients identifies new candidate genes whose future investigation may grant relevant insights in the molecular events that drive weight gain during antidepressant treatment.

scholarly journals The Aggregate Claims Distribution in the Individual Model with Arbitrary Positive Claims

1989 ◽  
Vol 19 (1) ◽  
pp. 9-24 ◽  
Author(s):  
Nelson De Pril
Keyword(s):  
Computing Time ◽  
Recursion Formula ◽  
Theory Model ◽  
Risk Theory ◽  
Individual Risk ◽  
Present Contribution ◽  
Individual Model ◽  
Life Model ◽  
Aggregate Claims ◽  
The Individual

AbstractIn an earlier paper the author derived a recursion formula which permits the exact computation of the aggregate claims distribution in the individual life model. To save computing time he also proposed an approximative procedure based on the exact recursion.In the present contribution the exact recursion formula and the related approximations are generalized to the individual risk theory model with arbitrary positive claims. Error bounds for the approximations are given and it is shown that they are smaller than those of the Kornya-type approximations.

The importance and significance of gene polymorphisms in preeclampsia

2016 ◽  
pp. 45-49
Author(s):  
P.N. Veropotvelyan ◽  
◽  
I.S. Tsehmistrenko ◽  
N.P. Veropotvelyan ◽  
N.S. Rusak ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Systematic Review ◽  
Early Diagnosis ◽  
Gene Polymorphisms ◽  
Individual Risk ◽  
Extended Study ◽  
Stress Genes ◽  
Detoxification System ◽  
The Individual ◽  
The Relationship

Was to conduct a systematic review of data on the relationship between polymorphisms genes of detoxification system and development of preeclampsia (РЕ). Рresents the main genes of detoxification system (GSTPI, GSTМI, GSTТI, GРХI, ЕРНХI, SOD-2, SOD-3, CYPIAL, MTHЕR, MTR) and their functions. Of interest is the possibility of calculating the individual risk of PE based on the results about the presence of a combination of different polymorphisms in the genotype of the female. Question about early diagnosis of РЕ remains controversial and not fully understood. It is necessary to conduct further in-depth, extended study of this problem. Key words: preeclampsia, oxidative stress, genes of the detoxification system.

Differentiation of endemic areas by incidence rates of tick-borne infectious diseases as the basis for choosing prevention strategy and tactics

2019 ◽  
pp. 56-61
Author(s):  
N.V. Rudakov ◽  
N.A. Penyevskaya ◽  
D.A. Saveliev ◽  
S.A. Rudakova ◽  
C.V. Shtrek ◽  
...  
Keyword(s):  
High Risk ◽  
Infectious Diseases ◽  
Population Based ◽  
Preventive Therapy ◽  
Incidence Rates ◽  
Prevention Strategy ◽  
Individual Risk ◽  
The Individual ◽  
Integral Assessment ◽  
Very High

Research objective. Differentiation of natural focal areas of Western Siberia by integral incidence rates of tick-borne infectious diseases for determination of the strategy and tactics of their comprehensive prevention. Materials and methods. A retrospective analysis of official statistics for the period 2002-2018 for eight sub-federal units in the context of administrative territories was carried out. The criteria of differentiation were determined by means of three evaluation scales, including long-term mean rates of tick-borne encephalitis, tick-borne borreliosis, and Siberian tick-borne typhus. As a scale gradation tool, we used the number of sample elements between the confidence boundaries of the median. The integral assessment was carried out by the sum of points corresponding to the incidence rates for each of the analyzed infections. Results. The areas of low, medium, above average, high and very high risk of tick-borne infectious diseases were determined. Recommendations on the choice of prevention strategy and tactics were given. In areas of very high and high incidence rates, a combination of population-based and individual prevention strategies is preferable while in other areas a combination of high-risk and individual strategies is recommended. Discussion. Epidemiologic zoning should be the basis of a risk-based approach to determining optimal volumes and directions of preventive measures against natural focal infections. It is necessary to improve the means and methods of determining the individual risk of getting infected and developing tick-borne infectious diseases in case of bites, in view of mixed infection of vectors, as well as methods of post-exposure disease prevention (preventive therapy).

scholarly journals A New Medical Record Proposal to the Prognostic Risk Assessment for MRONJ in Oncologic Patients: “Sapienza Head and Neck Unit” Proposal

2021 ◽  
Vol 18 (4) ◽  
pp. 1851
Author(s):  
Edoardo Brauner ◽  
Silvia Mezi ◽  
Alessandro Ciolfi ◽  
Chiara Ciolfi ◽  
Resi Pucci ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Bone Cancer ◽  
Osteonecrosis Of The Jaw ◽  
Individual Risk ◽  
Medical Report ◽  
Oncologic Patients ◽  
Antiangiogenic Drugs ◽  
Dental Screening ◽  
The Individual

Medication-related osteonecrosis of the jaw (MRONJ) is an adverse event associated with antiresorptive and antiangiogenic drugs. The use of these drugs in the treatment of cancer patients with bone metastasis is necessary and standardized in the literature. A multidisciplinary approach for the patient’s management is strongly recommended. Therefore, it should be necessary to integrate the path of these subjects with a dedicated dental screening in order to first assess the individual risk of developing a MRONJ, and then to plan dental treatments and oral hygiene sessions, and finally to schedule a follow-up to intercept and treat early osteonecrosis. The aim of this manuscript is to propose a new simple medical report to evaluate patients affected by metastatic bone cancer in order to reduce the risk of developing MRONJ.

scholarly journals Alu RNA Modulates the Expression of Cell Cycle Genes in Human Fibroblasts

2019 ◽  
Vol 20 (13) ◽  
pp. 3315 ◽  
Author(s):  
Simona Cantarella ◽  
Davide Carnevali ◽  
Marco Morselli ◽  
Anastasia Conti ◽  
Matteo Pellegrini ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Cell Cycle Progression ◽  
Human Fibroblasts ◽  
Rna Polymerase Iii ◽  
Protein Coding ◽  
Non Coding Rna ◽  
Genome Wide ◽  
Hela Cell Lines ◽  
Significant Enrichment ◽  
Alu Rna

Alu retroelements, whose retrotransposition requires prior transcription by RNA polymerase III to generate Alu RNAs, represent the most numerous non-coding RNA (ncRNA) gene family in the human genome. Alu transcription is generally kept to extremely low levels by tight epigenetic silencing, but it has been reported to increase under different types of cell perturbation, such as viral infection and cancer. Alu RNAs, being able to act as gene expression modulators, may be directly involved in the mechanisms determining cellular behavior in such perturbed states. To directly address the regulatory potential of Alu RNAs, we generated IMR90 fibroblasts and HeLa cell lines stably overexpressing two slightly different Alu RNAs, and analyzed genome-wide the expression changes of protein-coding genes through RNA-sequencing. Among the genes that were upregulated or downregulated in response to Alu overexpression in IMR90, but not in HeLa cells, we found a highly significant enrichment of pathways involved in cell cycle progression and mitotic entry. Accordingly, Alu overexpression was found to promote transition from G1 to S phase, as revealed by flow cytometry. Therefore, increased Alu RNA may contribute to sustained cell proliferation, which is an important factor of cancer development and progression.

Genome‐Wide DNA (hydroxy)methylation reveals the individual epigenetic landscape importance on osteogenic phenotype acquisition in periodontal ligament cells

2021 ◽  
Author(s):  
Rogério S. Ferreira ◽  
Rahyza I. F. Assis ◽  
Geórgia da S. Feltran ◽  
Iasmin Caroline do Rosário Palma ◽  
Beatriz G. Françoso ◽  
...  
Keyword(s):  
Periodontal Ligament ◽  
Periodontal Ligament Cells ◽  
Epigenetic Landscape ◽  
Genome Wide ◽  
The Individual
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