Polymorphism Rs4680 Research Articles

BDNF gene RS6265 polymorphism in patients with multiple sclerosis of Tomsk region

To study the effect of the RS6265 polymorphism of BDNF gene on the risk of development, main clinical characteristics and DMT response in MS patients in Tomsk region. The study group included 321 patients, the control group consisted of 266 healthy volunteers. Deoxyribonucleic acid (DNA) was isolated from venous blood using the standard phenol-chloroform method. Genotyping was carried out by real-time polymerase chain reaction (PCR) using competing TaqMan probes complementary to the polymorphic nucleotide sequence. Carriage of the C allele and CC genotype of the RS6265 polymorphism of the BDNF gene was found to be a factor determining a more favorable MS course. Carriers of the indicated genotype had a low rate of MS progression, a lower frequency of relapses and a less pronounced degree of disability with a comparable MS duration, and significantly more often demonstrated a more optimal response to first and second line of DMT.

ASSOCIATION OF THE <i>ZNF804A rs1344706</i> GENE POLYMORPHISM WITH THE INDUCED EEG RHYTHMS IN VISUAL PERCEPTION OF THE VERBAL STIMULI IN HEALTHY SUBJECTS AND IN SCHIZOPHRENIA

We studied the relationship between the ZNF804A rs1344706 gene polymorphism and the parameters of event-related synchronization/desynchronization of EEG rhythms in visual perception of semantic and meaningless verbal information in patients with schizophrenia and schizophrenia spectrum disorders (n = 93) and mentally healthy subjects (n = 93). When reading verbal information regardless of psychiatric status, the theta rhythm synchronization was less pronounced in subjects with the AA genotype than in carriers of allele C. In healthy subjects, the carriers of the AA genotype, in comparison with carriers of allele C, the synchronization of theta rhythm in the posterior cortical areas of the left hemisphere was reduced, and there were no differences in the synchronization of gamma and desynchronization of mu rhythms when perceiving semantic and nonsensical verbal information. In patients with genotype AA, compared with carriers of allele C, the desynchronization of mu rhythm was smaller, which correlated with the severity of poverty of speech on the PANSS scale. The study results indicate a modulating effect of the rs1344706 polymorphism of the ZNF804A gene on the neurophysiological characteristics of the reading process and its contribution to the variability of clinically expressed language disorders.

Peer victimization, depression, and non-suicidal self-injury among Chinese adolescents: the moderating role of the 5-HTR2A gene rs6313 polymorphism

BackgroundPeer victimization is a crucial risk predictor for adolescent non-suicidal self-injury (NSSI). However, adolescent NSSI reactions to peer victimization exhibit large individual differences. This study explored whether depression mediated the association between peer victimization and adolescent NSSI, and whether this mediating path was moderated by the 5-HTR2A gene rs6313 polymorphism.MethodsA total of 667 adolescents (Meanage = 12.81, SD = 0.48) completed questionnaires regarding peer victimization, depression, and NSSI. Genomic DNA was extracted from saliva and buccal cells from each participant.ResultsThe results showed that the positive relation between peer victimization and adolescent NSSI was mediated by depression. Moreover, the triple interaction between peer victimization, rs6313 polymorphism, and gender on adolescent depression was significant. And the triple interaction between depression, rs6313 polymorphism, and gender on adolescent NSSI was also significant. Specifically, the risk effect of peer victimization on adolescent NSSI through increased depression was stronger for female adolescents with CC genotype than for female adolescents with CT or TT genotype, and male adolescents with CT or TT genotype. However, the indirect effect was nonsignificant for male adolescents with CC genotype.ConclusionsThese findings promote the etiological understanding of adolescent NSSI, highlighting the mediating and moderating effect between peer victimization and NSSI, and adding evidence supporting the relationship between the 5-HTR2A gene rs6313 polymorphism, depression and adolescent NSSI.

Generation of three induced pluripotent stem cell lines carrying different variants of the BDNF (Val66Met) polymorphism

Brain-derived neurotrophic factor (BDNF) has been implicated in a multitude of neurodevelopmental processes including neuronal differentiation, axonal outgrowth, synaptic plasticity, or survival. One human-specific single nucleotide polymorphism (rs6265) in the BDNF gene causes a substitution of valine (Val) to methionine (Met) at codon 66 in the pro domain of the protein (Val66Met). This substitution is associated to reduced hippocampal volumes, poor performance on hippocampal-dependent memory tasks, and some mental disorders such as schizophrenia, depression or Alzheimer’s disease. Here we generated three iPSC lines from healthy donors, either homozygous (Val/Val and Met/Met) or heterozygous (Val/Met) for the polymorphism.

Serotonin Receptor Gene Polymorphisms Are Associated with Cerebrospinal Fluid, Genetic, and Neuropsychological Biomarkers of Alzheimer's Disease.

A decrease in serotonergic transmission throughout the brain is among the earliest pathological changes in Alzheimer's disease (AD). Serotonergic receptors are also affected in AD. Polymorphisms in genes of serotonin (5HT) receptors have been mostly associated with behavioral and psychological symptoms of dementia (BPSD). In this study, we examined if AD patients carrying different genotypes in 5HTR1B rs13212041, 5HTR2A rs6313 (T102C), 5HTR2C rs3813929 (-759C/T), and 5HTR6 rs1805054 (C267T) polymorphisms have a higher risk of faster disease progression (assessed by neuropsychological testing), are more prone to develop AD-related pathology (reflected by levels of cerebrospinal fluid [CSF] AD biomarkers), or have an association with an apolipoprotein E (APOE) haplotype. This study included 115 patients with AD, 53 patients with mild cognitive impairment (MCI), and 2701 healthy controls. AD biomarkers were determined in the CSF of AD and MCI patients using enzyme-linked immunosorbent assays (ELISA), while polymorphisms were determined using either TaqMan SNP Genotyping Assays or Illumina genotyping platforms. We detected a significant decrease in the CSF amyloid β1-42 (Aβ1-42) and an increase in p-tau181/Aβ1-42 ratio in carriers of the T allele in the 5HTR2C rs3813929 (-759C/T) polymorphism. A significantly higher number of APOE ε4 allele carriers was observed among individuals carrying a TT genotype within the 5HTR2A T102C polymorphism, a C allele within the 5HTR1B rs13212041 polymorphism, and a T allele within the 5HTR6 rs1805054 (C267T) polymorphism. Additionally, individuals carrying the C allele within the 5HTR1B rs13212041 polymorphism were significantly more represented among AD patients and had poorer performances on the Rey-Osterrieth test. Carriers of the T allele within the 5HTR6 rs1805054 had poorer performances on the MMSE and ADAS-Cog. As all four analyzed polymorphisms of serotonin receptor genes showed an association with either genetic, CSF, or neuropsychological biomarkers of AD, they deserve further investigation as potential early genetic biomarkers of AD.

TSPO gene polymorphism in Korean population

AbstractBackground18‐kDA translocator protein (TSPO protein) expression increases in neuroinflammation. Specific ligands that binds to TSPO protein can be used to visualize neuroinflammation. Due to the reported dependency of binding properties of the second‐generation TSPO ligands on a genetic polymorphism of the TSPO gene, all individuals were genotyped and classified as low‐, medium‐, or high‐affinity binder (LAB, MAB, and HAB). The objective of this study is to investigate the rs6971 gene polymorphism in Korean population.MethodWe performed genetic testing in 109 subjects including Alzheimer’s disease, mild cognitive decline, Lewy body disease, subcortical vascular dementia, and cognitively unimpaired participants. All of them performed MRI and detailed neuropsychological test. 29 participants also took 18F‐DPA714 PET. Exon 4 of the TSPO gene containing the polymorphism rs6971 (Ala or Thr at position 147) as well as exon/intron junctions were PCR amplified and sequenced using Sanger method. The identified rs6971 genotypes (C/C, C/T, or T/T) code for the amino acids Ala/ Ala, Ala/Thr, or Thr/Thr at position 147 of the TSPO protein and were considered to generate a high‐, medium‐, or low‐affinity binding phenotype, respectively.ResultWe found 96.3% of the study subjects were HAB (105 out of 109 subjects), and 3.7% of the subjects were MAB (4 out of 109 subjects). There was no participant who was LAB. From HapMap data allele frequency, American group had 69.2%of HABs, 28% of MABs, and 2.8% of LABs. In African group, 67.4% was HABs, 29.4% was MABs, and 3.2% was LABs. In Asian group, 96.9% was HABs, 6.1% was MABs, and 0.1% was LABs. In Europe group, 45.7% was HABs, 43.8% was MABs, and 10.5% was LABs.ConclusionKorean population had lesser frequency of MABs and LABs like other Asian population. Therefore, availability of second‐generation TSPO PET related to rs6971 gene polymorphism would be lesser affected.

Gender divergent effect of COMT gene rs4680 polymorphism on the association between executive dysfunction and psychotic-like experiences

AimPremorbid cognitive impairments are observed prior to the onset of schizophrenia. Catechol-O-methyltransferase (COMT) rs4680 is associated with psychosis and plays a crucial role in the development of the executive function. In addition, genetic COMT variations and gender affect its enzymatic activity. Therefore, the aim of this study was to evaluate the impact of COMT rs4680 on the relationship between executive dysfunction and psychotic-like experiences (PLEs) in college students, with the additional investigation of the gender difference. MethodsA total of 463 students provided biological samples for DNA analysis and the COMT gene rs4680 polymorphism was discriminated by the improved multiplex ligase detection reaction method. They also completed the Prodromal Questionnaire and the Dysexecutive Questionnaire. ResultsExecutive dysfunction significantly predicted positive PLEs in the total, male and female population (β = 0.515, 0.508 and 0.512, p < 0.001). The results of moderated analysis revealed that COMT rs4680 recessive genetic model (‘AA genotype’ versus ‘G carrier’) moderated the relationship between executive dysfunction and psychotic-like experience in the total and females (p = 0.002 and p <0.001, respectively), but not in males. ConclusionThese findings revealed a female-specific effect of COMT rs4680 on the relationship between executive dysfunction and PLEs in young adults.

Висока частота гомозиготного генотипу 472АА COMT (Val158) гена катехол-О-метилтрансферази (COMT) у дітей із синдромом подразненого кишечника

Following the biopsychosocial model of medicine, the pathophysiological basis of irritable bowel syndrome (IBS) is a combination of biological, psychoemotional, and psychosocial factors, the contribution of each of them to the development of this disorder remains unclear. Psychoemotinal factors, which are involved in the pathogenesis of IBS, are caused not only by the environment but also by the metabolism of catecholamines, particularly by the functional activity of catechol-O-methyltransferase (COMT). Purpose - to determine the role of Val158Met COMT polymorphism in development of IBS in children; to identify associations between genotype and clinical variant of the disorder and the nature of the provoking factor. Materials and methods. The material for the molecular genetic study were DNA samples obtained from nuclear cells of venous blood of 54 patients aged 6-12 years with diagnosed IBS. In 48 practically healthy children of the same age DNA samples were isolated from buccal epithelial cells. Molecular genetic study of single nucleotide polymorphism rs4680 of COMT gene was performed by polymerase chain reaction followed by analysis of restriction fragment length polymorphism. Microsoft Excel 2016 and GraphPad Prism 5 software were used for statistical analysis. Results. We have revealed significant differences in the distribution of Val158Met COMT genotypes in children with IBS in comparison with the control group. There was established that the 472GА COMT is more prevalent in healthy children and has a protective role in the development of IBS. In contrast, homozygous genotypes 472GG and 472AA, which are associated with changes in functional activity of enzyme COMT, may be considered as the risk factors for IBS (p≤0.0001). Conclusions. Genotype 472АА COMT was mostly detected in сhildren with stress-associated IBS, which is more related to dysnociception, disorders of cognition, and emotional disturbances. The higher prevalence of 472GA COMT heterozygotes among children with postinfectious IBS and IBS associated with antibiotic therapy indicates a less important role for the psychoemotional component and nociceptive disorders in the onset of this disorder (p=0.03). The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Investigation of the Relationship between Anxiety Disorder and Time Perception with DRD2 rs1800497 Polymorphism

Investigation of the Relationship between Anxiety Disorder and Time Perception with DRD2 rs1800497 Polymorphism

Association between the HTR1A rs6295 gene polymorphism and suicidal behavior: an updated meta-analysis.

Several association studies have indicated that the HTR1A gene is associated with suicidal behavior (SB). Thus, a systematic assessment of the association of HTR1A was performed based on a literature review and pooled analysis. Four electronic databases were comprehensively searched to find and pinpoint all case-control articles related to this study. When analyzing the genetic association with SB, data were divided into: (A) SB cases vs. healthy controls and (B) SB cases vs. psychiatric controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were assessed as measures of association. Heterogeneity among included studies was analyzed using sensitivity test and Q statistics. Publication bias was also explored by Egger and rank correlation test. Thirteen case-control studies were selected in this meta-analysis, involving 2817 SB patients, 2563 healthy controls and 545 psychiatric controls. In the overall comparison between SB cases and healthy controls, result showed that the rs6295 polymorphisms of HTR1A gene was associated with SB, but only when using the recessive model (OR = 2.21, 95% CI = 1.80-2.71, P < 0.001). In the smaller sample size comparison between SB and psychiatric controls, no significant association was detected with rs6295 in any of the five genetics models tested. The present meta-analysis suggests that rs6295 polymorphism of HTR1A gene could increase the risk for SB. Well-designed studies with more patients will be required to validate these results.

Associations between the COMT rs4680 Gene Polymorphism and Personality Dimensions and Anxiety in Patients with a Diagnosis of Other Stimulants Dependence.

Background: Research on the hypodopaminergic hypothesis of addictions showed that hypodopaminergic activity in males predicted the number of drugs used and is associated with drug-seeking behavior. Variant alleles may cause hypodopaminergic functioning as a result of the reduced density of dopamine receptors, decreased response to dopamine, increased dopamine clearance or metabolism in the reward system. The catechol-O-methyltransferase (COMT) is involved in the metabolism of dopamine. Personality traits may mediate the genetic predisposition to substance use disorders additively by various motivations associated with reward-seeking and regulating negative emotions, and also relate to self-control and environment selection. The aim of the study: The aim of this study was to investigate the association of the rs4680 polymorphism of COMT with personality dimensions and anxiety in patients addicted to stimulants other than cocaine (F15 according to WHO ICD-10 nomenclature) in the case of examined patients amphetamine. Methods: The study was conducted among patients addicted to stimulants other than cocaine (amphetamine). The study group included 247 patients addicted to stimulants (amphetamine) and the control group comprised 280 healthy male volunteers. The real-time PCR method was used to carry out genetic tests; personality dimensions were assessed using the standardized NEO-FFI and state and trait anxiety were assessed with STAI. All analyses were performed using STATISTICA 13. Results: The results of the 2 × 3 factorial ANOVA showed a statistically significant effect of the combined factor COMT rs4680 genotype on the group of patients diagnosed with other stimulants dependence/control (F2,252 = 3.11, p = 0.0465, η2 = 0.024). Additionally, we observed that the results of the 2 × 3 factorial ANOVA showed a statistically significant influence of the combined factor COMT rs4680 on the genotype in the group of patients diagnosis with other stimulants dependence/control (F2,252 = 6.16, p = 0.0024, η2 = 0.047). Conclusions: In our research, the polymorphism G/G COMT rs4680 genotype was associated with higher scores of STAI traits and STAI states in the patients dependent on amphetamine. In the control group we observed no such interactions.

Are COMT Val158Met (rs4680), DRD2 TaqIA (rs1800497), and BDNF Val66Met (rs6265) polymorphisms associated with executive functions performance at rest and during physical exercise?

Executive functions (EFs) encompass a wide array of cognitive processes, which appear to be influenced by genetic variants of the COMT, DRD2/ANKK1, and BDNF polymorphisms. The present study aimed to investigate whether COMT Val158Met (rs4680), DRD2/ANKK1 (rs1800497), and BDNF Val66Met (rs6265) polymorphisms were associated with EFs assessed at rest and during moderate acute physical exercise. Sixty physically active individuals underwent four laboratory visits. First, they filled out the pre-exercise survey, researchers collected their anthropometric data, and then performed a maximal cardiopulmonary exercise test. In the second and third sessions, participants performed EFs test in a randomized order: while the individual was seated on a cycle ergometer without pedaling (i.e., rest condition); and during physical exercise (pedaling for 30 minutes at moderate intensity before starting the EFs test during exercising). On the fourth day, blood samples were drawn. Our results showed that the response time of the COMT Val homozygotes group was significantly shorter than the COMT Met-carrier group [t(39.78) = 2.13, p = .039,d = 0.56] at rest condition. No significant association was found for the other analyses (DRD2/ANKK1 and BDNF). In conclusion, the present study suggests that COMT Val158Met (rs4680) polymorphisms may be associated with EFs at rest condition. However, further studies are needed to validate this association.

The inconsistent mediating effect of catechol O methyl transferase Val158Met polymorphism on the sex difference of cognitive impairment in schizophrenia patients.

ObjectiveSchizophrenia is a multifaceted mental disorder characterized by heterogeneous positive/negative symptoms and cognitive deficits. Sex differences have been reported in various aspects of the disease. However, the underlying genetic reasons remain unelucidated. Recent studies show that the influence of COMT Val158Met (rs4680) variation is sexually dimorphic. Thus, this study aims to explore whether there is an effect of the interaction between COMT Val158Met (rs4680) polymorphism and sex on patients’ clinical characteristics and cognitive function.Materials and methodsWe recruited 367 in patients with chronic schizophrenia (246 males and 121 females) and 419 healthy controls (172 males and 247 females). The cognitive performance was assessed by Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), and the COMT Val158Met (rs4680) polymorphism is genotyped. The psychopathological symptoms of the patients were assessed by the Positive and Negative Syndrome Scale (PANSS).ResultsWe find that male patients had a significantly higher proportion of carrying the Val allele and Val/Val carriers exhibited more severe positive symptoms and cognitive impairment than Met carriers. COMT Val158Met (rs4680) polymorphism inconsistently mediated the relationship between sex and cognitive performance in schizophrenia patients.ConclusionThese findings suggest that COMT Val158Met (rs4680) polymorphism is associated with the risk and severity of schizophrenia in a sexually dimorphic way and contributes more to the clinical symptoms and cognitive impairment in male patients with schizophrenia.

Contributing Factors to Sensorimotor Adaptability in Reactive Agility Performance in Youth Athletes.

Sensorimotor adaptability facilitates adjusting behaviour for changing environmental stimuli to maintain appropriate goal-directed motor performance. Its effectiveness is associated with perceptual-cognitive modulation. As the factors affecting it are still not completely known, the aim of our study was therefore to analyse the association between selected variables (demographic, training, anthropometric, genetic) and sensorimotor adaptation in reactive agility tasks in youth team-sport athletes. The study group consisted of 85 youth athletes (aged 12.61 ± 0.98 years). Based on an initial evaluation, participants were divided into faster and slower agility groups. The resultant differences between change of direction speed tests and reactive agility tests provided the REAC-INDEX as a dependent variable. The independent variables were as follows: gender, calendar age, body mass, height, BMI, maturity offset, training status and the BDNF rs6265 polymorphism. Multiple linear regression showed that the maturity offset (ß = 0.269; p = 0.012) and calendar age (ß = -0.411; p < 0.001) significantly contributed to the REAC-INDEX of all participants (R2 = 0.13). In the slower group, the c.196G BDNF allele had a significant influence (ß = -0.140; p = 0.044) on the REAC-INDEX. The best predictive model comprised female gender (ß = 0.799; p < 0.001), maturity offset (ß = -0.586; p < 0.001) and training experience (ß = -0.225; p = 0.009), contributing to 49% of RA variance. Sensorimotor adaptability is mainly dependent on gender and age, and can be improved through systematic sports training. The BDNF rs6265 polymorphism may be considered a contributing factor to SA variability in the initial stages of training, although polymorphism-related differences blurred as the effect of participation in sports training increased.

Parent-Adolescent Conflict, Depressive Symptoms, and Non-Suicidal Self-Injury among Chinese Adolescents: The Moderating Effect of the COMT Gene rs4680 Polymorphism.

Existing research suggests that parent-adolescent conflict is associated with increased risk for adolescent non-suicidal self-injury (NSSI). However, adolescent NSSI reactions to parent-adolescent conflicts exhibit large individual differences. This study sought to explore whether depressive symptoms mediates the relationship between parent-adolescent conflict and adolescent NSSI, and whether this mediating process is moderated by the COMT gene rs4680 polymorphism. A total of 673 adolescents (364 males, 309 females) in the age range of 12 to 15 years (Meanage = 12.81 years, SD = 0.48) completed questionnaires regarding parent-adolescent conflict, depressive symptoms, and NSSI. Genomic DNA was extracted from saliva and buccal cells from each participant. Bootstrapping techniques displayed statistically significant moderated mediation. The results showed that the positive association between parent-adolescent conflict and adolescent NSSI was in fact mediated by depressive symptoms. Moreover, this indirect link was moderated by the COMT gene rs4680 polymorphism. Specifically, the risk effect of parent-adolescent conflict on adolescent NSSI via depressive symptoms was stronger for adolescents with Val/Val genotype than for those with Met/Met or Val/Met genotype. These findings underscore the importance of examining the interaction between genes and the environment to understand how and when parent-adolescent conflict impacts adolescent NSSI.

Associations of air PM2.5 level with gut microbiota in Chinese Han preschoolers and effect modification by oxytocin receptor gene polymorphism

Variations in the single nucleotide polymorphisms (SNPs) of the oxytocin receptors (OXTR) indicate individual differences in stress response, social behavior, and psychopathology, but very few paper mentioned OXTR as part of the mechanism linking exposure to air pollution and poor social interactions. The authors investigated the moderating role of Oxytocin receptor (OXTR) rs53576 polymorphism in the relationship between PM2.5 level and gut microbiota in children, in an attempt to provide some reference for the evidence linking biological and environmental factors to children brain development. The study included 86 healthy Chinese preschoolers (50 males, 36 females) from two campuses of a kindergarten with different air PM2.5 levels. Atmospheric PM2.5 values released by air quality monitoring stations where the two campuses are located were collected for 30 days. The genotypes of OXTR rs53576 were determined by PCR and restriction fragment length polymorphism. The gut microbiota situation was evaluated by determining urinary concentrations of short-chain fatty acids. Urinary levels of cortisone and cortisol were determined to assess the impact of air pollution on the HPA axis. Urinary 2′-Deoxy-7,8-dihydro-8-oxoguanosine and 8-oxo-7,8-dihydroguanosine were measured to evaluate the oxidative stress state. The genotype distribution frequency of rs53576 polymorphism was consistent with Hardy-Weinberg equilibrium. The average urinary concentrations of cortisone, cortisol and 8-OHdG in high pollution campus preschoolers were significantly higher than those in low pollution campus preschoolers, while situations were opposite for acetic acid, propionic acid, isobutyric acid, butyric acid and valeric acid. The interaction between OXTR rs53576 and air pollution had a significant effect on urinary acetic acid. Allele G of rs53576 may be a risk factor for gut microbiota disorder caused by air pollution, and children with GA/GG genotype may be more susceptible than those with AA genotype.

Associations of Brain-Derived Neurotropic Factor rs6265 Gene Polymorphism with Personality Dimensions among Athletes.

Brain-Derived Neurotropic Factor (BDNF) is one of the essential mediating factors of exercise-induced neuroplasticity, but the underlying molecular mechanisms of exercise-induced neuroplasticity are still largely unknown. Personality dimensions differentiate individuals and depend on genes and environmental factors. The dimensions of openness to experience, emotional stability, extraversion and conscientiousness have been reported to be positively related to performance; considering agreeableness, a negative relation with sports performance was emphasized. However, not enough effort has been put into investigating the relationship between genetic polymorphisms affecting psychological abilities and competitive power sports. The aim of this study was to investigate the association of the rs6265 polymorphism of BDNF with personality dimensions in martial arts athletes. The study was conducted among martial arts athletes. The study group included 258 volunteers (martial arts athletes (n = 106) and controls (n = 152). BDNF polymorphism testing was performed using the real-time PCR method; personality dimensions were assessed using standardized NEO-FFI questionnaires. All analyses were performed using STATISTICA 13. We observed that martial arts athletes’ G/G genotypes compared to the control group G/G genotypes presented significantly higher severity of personality dimension “conscientiousness”. In comparison with the controls, the case group subjects had significantly higher scores in the dimension extraversion (M 6.89 vs. M 6.43, p = 0.0405) and conscientiousness/scale (M 7.23 vs. M 5.89, p < 0.0001). The results of 2 × 3 factorial ANOVA noticed a statistically significant effect of combined factor BDNF rs6265 genotype of martial arts/control (F2,252 = 3.11, p = 0.0465, η2 = 0.024). Additionally, we observed that the results of 2 × 3 factorial ANOVA showed a statistically significant influence of combined factor BDNF rs6265 of genotype martial arts/ control (F2,252 = 6.16, p = 0.0024, η2 = 0.047). The combination of the analysis of personality dimensions with genetics—as in the case of the polymorphism of the BDNF gene related to neuroplasticity—indicates that neurobiology cannot be ignored in educating sports champions. We already know that this is related to genetics. However, little is still known about the influence of personality traits on sports performance. We observed that martial arts athletes’ G/G genotypes, in comparison to the control group’s G/G genotypes, presented significantly higher severity of personality dimension “conscientiousness”. This is worthy of further analysis and probably longitudinal studies on a more numerous group of athletes.

Single nucleotide polymorphisms in 5-HT receptors in the etiology of premature ejaculation

Introduction and objectivesPremature ejaculation (PE) is characterized by shorter intravaginal ejaculation latency time than it is acceptable for the patient or partner. It is thought that lifelong PE is a neurobiological dysfunction associated with genetic predisposition and with central serotonin neurotransmission dysfunction in receptors. To contribute to the understanding the genetic etiology of lifelong PE, it was planned to compare the 5-HT2C receptor gene rs3813929, rs518147, 5-HT1A receptor gene rs6295, 5-HT1B receptor gene rs11568817 of lifelong PE patients to healthy controls. Materials and methodsFor this purpose, 100 patients with premature ejaculation and 100 healthy controls were included in the study. Blood samples for DNA extraction were obtained. Appropriate procedures were applied to the probes (rs3813929, rs518147, rs6295, rs11568817) suitable for the DNA studied. ResultsA statistically significant relationship was found between the rs11568817 polymorphism (p=0.019) in the 5-HT1B receptor gene and the rs518147 polymorphism (p=0.016) in the 5-HT2C receptor gene. Also, no statistically significant relationship was found between 5-HT1A receptor gene rs6295 polymorphism and 5-HT2C receptor gene rs3813929 polymorphism and lifelong PE. ConclusionsThe relationship between rs3813929 and rs11568817 polymorphisms with lifelong PE was confirmed. Repeating the study in larger sample groups could be useful in determining the genetic etiology of PE.

Exploration of the Moderating Effects of Physical Activity and Early Life Stress on the Relation between Brain-Derived Neurotrophic Factor (BDNF) rs6265 Variants and Depressive Symptoms among Adolescents.

Depression affects one in five persons at 18 years of age. Allele A of the brain-derived neurotrophic factor (BDNF) rs6265 is considered to be a risk factor for depression. Previous studies of the interaction between BDNF rs6265, early adversity, and/or physical activity have shown mixed results. In this study, we explored the relation between BDNF rs6265 polymorphism and childhood stress, as well as the moderating effect of physical activity in relation to depressive symptoms using binary logistic regressions and process models 1, 2 and 3 applied to data obtained at three times (waves 1, 2 and 3) from the Survey of Adolescent Life in Västmanland cohort study (SALVe). Results revealed that both childhood stress and physical activity had a moderation effect; physical activity in wave 1 with an R2 change = 0.006, p = 0.013, and the Johnson–Neyman regions of significance (RoS) below 1.259, p = 0.05 for 11.97%; childhood stress in wave 2 with the R2 change = 0.008, p = 0 002, and RoS below 1.561 with 26.71% and >4.515 with 18.20%; and a three-way interaction in wave 1 in genotype AA carriers. These results suggest that allele A is susceptible to physical activity (positive environment) and childhood stress (negative environment).

Anxiety Disorders and Prediction of Their Development in Patients with Hypothyroidism and Autoimmune Thyroiditis

Objective: Since the association between thyroid dysfunction and neuropsychiatric disorders has been known for many years, it is important to analyze the associations of the BDNF gene polymorphism (rs6265), the VDR gene polymorphism (rs2228570), and the NMDA gene polymorphism (rs4880213) with the anxiety in patients with autoimmune thyroiditis and hypothyroidism in the Western Ukrainian population and predict the development of anxiety disorders in these patients.&#x0D; Methods: The study involved a total of 153 patients with various forms of thyroid pathology. BDNF levels in the sera of the patients and healthy individuals were quantified using an enzyme-linked immunosorbent assay with a highly sensitive Human BDNF ELISA Kit (Elabscience®, United States, Catalog No: E-EL-H0010) on E.I.A. Reader Sirio S (Seac, Italy). Genotyping of the VDR (rs2228570), BDNF (rs6265), and NMDA (rs4880213) gene polymorphism using TaqMan probes and TaqMan Genotyping Master Mix (4371355) on CFX96™Real-Time PCR Detection System (Bio-Rad Laboratories, Inc., USA). Polymerase chain reaction (PCR) for TaqMan genotyping was carried out according to the kit instructions (Applied Biosystems, USA).&#x0D; Results: According to the data obtained when comparing the presence of anxiety on the Hamilton scale on SNP statistically significant differences were revealed depending on BDNF gene polymorphism (rs6265) (p &lt; 0.001). When comparing the presence of anxiety on the Hamilton scale on SNP depending on VDR gene polymorphism (rs2228570), NMDA gene polymorphism (rs4880213) no statistically significant differences were revealed (p = 0.782, p = 0.677 respectively) We identified an inverse strong correlation between the presence of anxiety on Hamilton scale and BDNF, 25-OH Vitamin D levels, and fT4 in the blood (p &lt;0.001) and a direct moderate correlation between the presence of anxiety on Hamilton scale and TSH, GRIN2B, and anti-TPO (p &lt;0.001).&#x0D; Conclusion: Indicators such as BDNF, GRIN2B, fT4, anti-TG, and 25-OH levels of vitamin D are prognostically significant risk criteria for anxiety.