The role of genetic variants in genes regulating the oxytocin–vasopressin neurohumoral system in childhood-onset aggression

2014 ◽  
pp. 1 ◽  
Author(s):  
Ayesha I. Malik ◽  
Clement C. Zai ◽  
Laura Berall ◽  
Zihad Abu ◽  
Farah Din ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Childhood Onset ◽  
Neurohumoral System

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

2020 ◽  
Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein
Keyword(s):  
Young Child ◽  
Genetic Basis ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Childhood Onset

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.

The role of cytochrome P450 enzyme genetic variants in cannabis hyperemesis syndrome—A case report

2021 ◽  
Author(s):  
Maxim Kuzin ◽  
Franziskos Xepapadakos ◽  
Isabel Scharrer ◽  
Marc Augsburger ◽  
Chin‐Bin Eap ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Case Report ◽  
Genetic Variants ◽  
Cytochrome P450 Enzyme ◽  
P450 Enzyme ◽  
Cannabis Hyperemesis Syndrome

Role of miR-146a rs2910164 and UTS2 rs228648 Genetic Variants in Behçet’s Disease

2021 ◽  
pp. 1-10
Author(s):  
Asmaa Kamal ◽  
Fatema T Elgengehy ◽  
Zahraa Elawady ◽  
Nahla A. Fawzy ◽  
Ola El Sisi
Keyword(s):  
Behçet’S Disease ◽  
Genetic Variants ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Behcet's Disease

Transporters, TBC1D4, and ARID5B Variants to Explain Glycated Hemoglobin Variability in Patients with Type 2 Diabetes

Pharmacology ◽  
2021 ◽  
pp. 1-9
Author(s):  
Vanessa Gonzalez-Covarrubias ◽  
Héctor Sánchez-Ibarra ◽  
Karla Lozano-Gonzalez ◽  
Sergio Villicaña ◽  
Tomas Texis ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Glucose Control ◽  
Plasma Levels ◽  
Prediction Models ◽  
Glycated Hemoglobin ◽  
Clinical Chemistry ◽  
Diabetic Patients ◽  
Genetic Associations ◽  
Hemoglobin Variability

<b><i>Introduction:</i></b> Genetic variants could aid in predicting antidiabetic drug response by associating them with markers of glucose control, such as glycated hemoglobin (HbA1c). However, pharmacogenetic implementation for antidiabetics is still under development, as the list of actionable markers is being populated and validated. This study explores potential associations between genetic variants and plasma levels of HbA1c in 100 patients under treatment with metformin. <b><i>Methods:</i></b> HbA1c was measured in a clinical chemistry analyzer (Roche), genotyping was performed in an Illumina-GSA array and data were analyzed using PLINK. Association and prediction models were developed using R and a 10-fold cross-validation approach. <b><i>Results:</i></b> We identified genetic variants on <i>SLC47A1, SLC28A1, ABCG2, TBC1D4,</i> and <i>ARID5B</i> that can explain up to 55% of the interindividual variability of HbA1c plasma levels in diabetic patients under treatment. Variants on <i>SLC47A1</i>, <i>SLC28A1</i>, and <i>ABCG2</i> likely impact the pharmacokinetics (PK) of metformin, while the role of the two latter can be related to insulin resistance and regulation of adipogenesis. <b><i>Conclusions:</i></b> Our results confirm previous genetic associations and point to previously unassociated gene variants for metformin PK and glucose control.

scholarly journals The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment

2021 ◽  
Vol 22 (12) ◽  
pp. 6422
Author(s):  
Caroline Pham ◽  
Noelia Muñoz-Martín ◽  
Elisabeth M. Lodder
Keyword(s):  
Cardiac Disease ◽  
Genetic Variants ◽  
Ischemia Reperfusion Injury ◽  
Ischemia Reperfusion ◽  
Cardiac Regeneration ◽  
Cardiac Diseases ◽  
Supraventricular Arrhythmias ◽  
Clinical Perspective ◽  
Physiological Processes

In the two decades since the discovery of TNNI3K it has been implicated in multiple cardiac phenotypes and physiological processes. TNNI3K is an understudied kinase, which is mainly expressed in the heart. Human genetic variants in TNNI3K are associated with supraventricular arrhythmias, conduction disease, and cardiomyopathy. Furthermore, studies in mice implicate the gene in cardiac hypertrophy, cardiac regeneration, and recovery after ischemia/reperfusion injury. Several new papers on TNNI3K have been published since the last overview, broadening the clinical perspective of TNNI3K variants and our understanding of the underlying molecular biology. We here provide an overview of the role of TNNI3K in cardiomyopathy and arrhythmia covering both a clinical perspective and basic science advancements. In addition, we review the potential of TNNI3K as a target for clinical treatments in different cardiac diseases.

The interplay of genotype and environment in the development of fear and anxiety

e-Neuroforum ◽  
2013 ◽  
Vol 19 (3) ◽  
Author(s):  
N. Sachser ◽  
K.-P. Lesch
Keyword(s):  
Individual Differences ◽  
Environmental Factors ◽  
Anxiety Disorders ◽  
Candidate Gene ◽  
Early Development ◽  
Genetic Variants ◽  
External Influences ◽  
Postnatal Environment ◽  
Fear And Anxiety

AbstractIndividual differences in fear, anxiety, and the etiology of anxiety disorders develop dur­ing ontogeny. They are due to both genet­ic and environmental factors. With regard to the role of the environment, the organism is most susceptible to external influences dur­ing early development. Accordingly, stressors that impinge on the maternal organism dur­ing pregnancy evoke high levels of anxiety in the offspring later in life, as does an adverse early postnatal environment. However, anxi­ety-related circuits in the central nervous sys­tem retain their plasticity in adulthood, i.e., levels of anxiety can also be modified by ex­perience across the entire successive lifespan. Notably, the effects of external stressors on the individual’s level of anxiety are modulat­ed by genotype. Such genotype-by-environ­ment interactions are particularly well stud­ied in relation to genetic variants that modu­late the function of the serotonin transport­er. Thus, this review focuses on this candidate gene to elucidate the interplay of genotype and environment in the development of fear and anxiety.

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