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1.
Int J Mol Sci ; 25(10)2024 May 09.
Article in English | MEDLINE | ID: mdl-38791212

ABSTRACT

Alcohol use disorder (AUD) is a significant issue affecting women, with severe consequences for society, the economy, and most importantly, health. Both personality and alcohol use disorders are phenotypically very complex, and elucidating their shared heritability is a challenge for medical genetics. Therefore, our study investigated the correlations between the microsatellite polymorphism (AAT)n of the Cannabinoid Receptor 1 (CNR1) gene and personality traits in women with AUD. The study group included 187 female subjects. Of these, 93 were diagnosed with alcohol use disorder, and 94 were controls. Repeat length polymorphism of microsatellite regions (AAT)n in the CNR1 gene was identified with PCR. All participants were assessed with the Mini-International Neuropsychiatric Interview and completed the NEO Five-Factor and State-Trait Anxiety Inventories. In the group of AUD subjects, significantly fewer (AAT)n repeats were present when compared with controls (p = 0.0380). While comparing the alcohol use disorder subjects (AUD) and the controls, we observed significantly higher scores on the STAI trait (p < 0.00001) and state scales (p = 0.0001) and on the NEO Five-Factor Inventory Neuroticism (p < 0.00001) and Openness (p = 0.0237; insignificant after Bonferroni correction) scales. Significantly lower results were obtained on the NEO-FFI Extraversion (p = 0.00003), Agreeability (p < 0.00001) and Conscientiousness (p < 0.00001) scales by the AUD subjects when compared to controls. There was no statistically significant Pearson's linear correlation between the number of (AAT)n repeats in the CNR1 gene and the STAI and NEO Five-Factor Inventory scores in the group of AUD subjects. In contrast, Pearson's linear correlation analysis in controls showed a positive correlation between the number of the (AAT)n repeats and the STAI state scale (r = 0.184; p = 0.011; insignificant after Bonferroni correction) and a negative correlation with the NEO-FFI Openness scale (r = -0.241; p = 0.001). Interestingly, our study provided data on two separate complex issues, i.e., (1) the association of (AAT)n CNR1 repeats with the AUD in females; (2) the correlation of (AAT)n CNR1 repeats with anxiety as a state and Openness in non-alcohol dependent subjects. In conclusion, our study provided a plethora of valuable data for improving our understanding of alcohol use disorder and anxiety.


Subject(s)
Alcoholism , Personality , Receptor, Cannabinoid, CB1 , Humans , Female , Receptor, Cannabinoid, CB1/genetics , Adult , Alcoholism/genetics , Alcoholism/psychology , Personality/genetics , Middle Aged , Microsatellite Repeats/genetics , Polymorphism, Genetic , Case-Control Studies , Genetic Predisposition to Disease
2.
Int J Mol Sci ; 25(5)2024 Mar 06.
Article in English | MEDLINE | ID: mdl-38474311

ABSTRACT

The main aims of the present study were to explore the relationship of the OPRM1 gene rs1074287 polymorphism in alcohol-dependent women with their personality traits and to try to find out whether any specific features may influence alcohol cravings and be a prognostic for alcohol dependency and treatment in AUD women. Our study found a notable correlation between openness and the interaction of the ORIM1 gene and AUD. The alcohol use disorder subjects with genotype AG showed a higher level of openness compared to the control group with genotypes AG (p = 0.0001) and AA (p = 0.0125). The alcohol use disorder subjects with the AA genotype displayed higher levels of openness than the control group with genotype AG (p = 0.0271). However, the alcohol use disorder subjects with the AA genotype displayed lower levels of openness than the control group with genotype GG (p = 0.0212). Our study indicates that openness as a personality trait is correlated with the OPRM1 gene rs1074287 polymorphism in alcohol-dependent women. These are the first data and results exploring such a relationship between opioid and alcohol pathways and the mental construction of AUD women. Personality traits such as openness to experience and neuroticism might play major roles in the addiction mechanism, especially in genetically predisposed females, independent of the reward system involved in the emotional disturbances that coexist with anxiety and depression.


Subject(s)
Alcoholism , Genetic Predisposition to Disease , Personality , Receptors, Opioid, mu , Female , Humans , Alcoholism/genetics , Alcoholism/psychology , Ethanol , Genotype , Polymorphism, Single Nucleotide , Receptors, Opioid, mu/genetics
3.
Int J Mol Sci ; 25(2)2024 Jan 08.
Article in English | MEDLINE | ID: mdl-38255861

ABSTRACT

Substance addiction is a neuropsychiatric disorder characterized by a recurring desire to continue using a substance despite harmful consequences. Brain-derived neurotrophic factor (BDNF) is a protein that plays a role in the activity-dependent remodeling of neural function in adult nervous systems. This study analyzed the association of the rs6265 polymorphism of the BDNF gene in a group of patients addicted to psychoactive substances who were participating in addiction treatment for the first time, in a group of post-relapse psychoactive substance abusers and in a control group. The study also assessed personality and anxiety in all study groups. Statistically significant differences in the frequency of genotypes and alleles were found between all study groups. Compared to the control, both study groups had statistically significantly higher scores for trait and state anxiety. Addicted patients in both groups also had higher scores on the Neuroticism and Openness scales and lower scores on the Extraversion and Agreeableness scales. The results of this study provide further evidence that personality traits, anxiety and the rs6265 polymorphism of the BDNF gene may be risk factors for susceptibility to addiction to psychoactive substances. In addition, they can be a predictor of addiction relapse, but further extensive studies are required to confirm these findings.


Subject(s)
Behavior, Addictive , Substance-Related Disorders , Adult , Humans , Alleles , Brain-Derived Neurotrophic Factor/genetics , Chronic Disease , Polymorphism, Genetic , Substance-Related Disorders/genetics
4.
Int J Mol Sci ; 25(2)2024 Jan 19.
Article in English | MEDLINE | ID: mdl-38279213

ABSTRACT

The development of a substance use disorder (SUD) is a multifaceted process influenced by both genetic and environmental factors. Recent research has suggested the potential involvement of the HINT1 gene in various aspects of plasticity, mood regulation, anxiety-like behaviour, and stress-coping mechanisms. Moreover, personality traits are also recognised to be instrumental in developing substance dependency. Given these considerations, our study investigated the associations among cigarette smoking, personality traits, and the rs2526303 polymorphism. Additionally, we investigated the interactions between personality traits and rs2526303 in the HINT1 gene. The study group comprised 531 volunteers: 375 cigarette users (mean age = 29.42 ± 10.72; F = 49%, M = 51%) and 156 never-smokers (mean age = 26.93 ± 10.09; F = 79%, M = 21%). Genotyping was conducted using the real-time PCR method, and the NEO Five-Factor Personality Inventory and State-Trait Anxiety Inventory were administered. There were no statistically significant differences in the frequency of rs2526303 genotypes and alleles in the cigarette user group compared to the control group. Compared to the control group, the cigarette users obtained higher scores in the assessment of the NEO-FFI Extraversion scale and lower results for the NEO-FFI Openness, Agreeableness, and Conscientiousness scales. Additionally, there was a statistically significant effect of rs2526303 genotype interaction and cigarette-using status on the conscientiousness scale. These outcomes collectively suggest a notable association between cigarette smoking and specific dimensions of personality, particularly highlighting differences in extraversion, openness, agreeableness, and conscientiousness. Furthermore, the detected interaction effect involving rs2526303 concerning conscientiousness signifies a complex interplay between genetic factors and smoking behaviour.


Subject(s)
Substance-Related Disorders , Tobacco Products , Humans , Adolescent , Young Adult , Adult , Smokers , Polymorphism, Genetic , Personality Inventory , Personality/genetics , Substance-Related Disorders/genetics , Nerve Tissue Proteins/genetics
5.
Int J Mol Sci ; 25(12)2024 Jun 11.
Article in English | MEDLINE | ID: mdl-38928154

ABSTRACT

It seems that BDNF has a direct influence on the brain pathways and is typically engaged during the processing of rewards. A surge in BDNF levels in the ventral tegmental area (the region from which the dopaminergic neurons of the mesocorticolimbic dopamine system originate and extend to the dorsolateral and ventromedial striatum) triggers a state of reward similar to that produced by opiates in animal studies. The aims of the study were (1) to analyze the association of the BDNF gene rs6265 polymorphism with AUD (alcohol use disorder) in women, (2) analyze personality and anxiety in alcohol-dependent and control woman, and (3) conduct an interaction analysis of rs6265 on personality, anxiety, and alcohol dependence. Our study found a notable interaction between the anxiety (trait and state), neuroticism, rs6265, and AUD. The alcohol AUD G/A genotype carriers revealed higher level of the anxiety trait (p < 0.0001) and neuroticism (p < 0.0001) compared to the control group with G/A and G/G genotypes. The alcohol use disorder subjects with the G/A genotype displayed higher levels of an anxiety state than the control group with G/A (p < 0.0001) and G/G (p = 0.0014) genotypes. Additionally, the alcohol use disorder subjects with the G/G genotype obtained lower levels of agreeability compared to the controls with G/A (p < 0.0001) and G/G (p < 0.0001) genotypes. Our study indicates that anxiety (trait and state) and neuroticism are interacting with the BDNF gene rs6265 polymorphism in alcohol-dependent women. Characteristics like anxiety (both as a trait and a state) and neuroticism could have a significant impact on the mechanism of substance dependency, particularly in females who are genetically susceptible. This is regardless of the reward system that is implicated in the emotional disruptions accompanying anxiety and depression.


Subject(s)
Alcoholism , Anxiety , Brain-Derived Neurotrophic Factor , Personality , Polymorphism, Single Nucleotide , Humans , Brain-Derived Neurotrophic Factor/genetics , Female , Alcoholism/genetics , Adult , Personality/genetics , Middle Aged , Anxiety/genetics , Genetic Predisposition to Disease , Genotype , Neuroticism , Case-Control Studies
6.
Int J Mol Sci ; 25(12)2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38928270

ABSTRACT

Alcohol use disorder is considered a chronic and relapsing disorder affecting the central nervous system. The serotonergic system, mainly through its influence on the mesolimbic dopaminergic reward system, has been postulated to play a pivotal role in the underlying mechanism of alcohol dependence. The study aims to analyse the association of the rs6295 polymorphism of the 5HTR1A gene in women with alcohol use disorder and the association of personality traits with the development of alcohol dependence, as well as the interaction of the rs6295, personality traits, and anxiety with alcohol dependence in women. The study group consisted of 213 female volunteers: 101 with alcohol use disorder and 112 controls. NEO Five-Factor and State-Trait Anxiety Inventories were applied for psychometric testing. Genotyping of rs6295 was performed by real-time PCR. We did not observe significant differences in 5HTR1A rs6295 genotypes (p = 0.2709) or allele distribution (p = 0.4513). The AUD subjects scored higher on the anxiety trait (p < 0.0001) and anxiety state (p < 0.0001) scales, as well as on the neuroticism (p < 0.0001) and openness (p = 0134) scales. Significantly lower scores were obtained by the AUD subjects on the extraversion (p < 0.0001), agreeability (p < 0.0001), and conscientiousness (p < 0.0001) scales. Additionally, we observed a significant effect of 5HTR1A rs6295 genotype interaction and alcohol dependency, or lack thereof, on the openness scale (p = 0.0016). In summary, this study offers a comprehensive overview of alcohol dependence among women. It offers valuable insights into this complex topic, contributing to a more nuanced understanding of substance use among this specific demographic. Additionally, these findings may have implications for developing prevention and intervention strategies tailored to individual genetic and, most importantly, personality and anxiety differences.


Subject(s)
Alcoholism , Anxiety , Personality , Polymorphism, Single Nucleotide , Receptor, Serotonin, 5-HT1A , Humans , Female , Receptor, Serotonin, 5-HT1A/genetics , Alcoholism/genetics , Alcoholism/psychology , Personality/genetics , Adult , Anxiety/genetics , Middle Aged , Genotype , Genetic Predisposition to Disease , Alleles , Genetic Association Studies , Case-Control Studies
7.
Int J Mol Sci ; 24(12)2023 Jun 16.
Article in English | MEDLINE | ID: mdl-37373392

ABSTRACT

Nicotine is the major reinforcing component of tobacco and it is believed that the pharmacological effects of nicotine motivate the initiation and maintenance of a smoking habit. HINT1 appears to play a role in the modulation of the effects of drug abuse. Hence, the aim of this study was the analysis of the association between the rs3864283 polymorphism of the HINT1 gene and cigarette use; the analysis of personality traits assessed by the means of the NEO-FFI Inventory; the analysis of anxiety measured by the STAI questionnaire; and the analysis of the interactions between the rs3864283 and both personality traits and anxiety. The study group consisted of 522 volunteers. Of these, 371 were cigarette users and 151 were never-smokers. The genomic DNA was isolated from venous blood using standard procedures. The results of both inventories, i.e., NEO-FFI and STAI., were reported as the sten scores. Genotyping was conducted with the real-time PCR method. Statistically significant differences were found in the frequency of rs3864283 genotypes and alleles in the tested sample of Cigarette Users when compared to the control group. The Cigarette Users compared to the control group obtained higher scores in the assessment of NEO-FFI extraversion scale, and significantly lower results were obtained for the NEO-FFI openness scale, the agreeableness scale, and the conscientiousness scale. There was a statistically significant effect of rs3864283 genotype interaction and Cigarette Use or not using (control group) on the extraversion scale. There was also a statistically significant effect of Cigarette Users or the control group on the extraversion scale score. The results obtained in the presented study indicated a significant association between the HINT1 rs3864283 variant and smoking status. Moreover, this is the first study incorporating genetic association of above-mentioned polymorphic site with interaction analysis of personality traits and anxiety. Overall, the results of this study suggest that HINT1 is an important genetic component associated with nicotine usage mechanisms.


Subject(s)
Nicotine , Tobacco Products , Humans , Personality/genetics , Polymorphism, Genetic , Anxiety/genetics , Personality Inventory , Nerve Tissue Proteins/genetics
8.
Int J Mol Sci ; 24(10)2023 May 18.
Article in English | MEDLINE | ID: mdl-37240274

ABSTRACT

Human phenotypes (traits) are determined by the selective use of a person's unique genotype (DNA sequence), following exposure to environmental stimuli, such as exercise. Inducing profound changes in epigenetics may be an underlying factor of the beneficial effects of exercise. This study aimed to investigate the association between methylation in the promoter region of the DAT1 gene and personality traits measured by the NEO-FFI questionnaire in a group of athletes. The study group included 163 athletes, and the control group consisted of 232 non-athletes. The obtained results show several significant differences between the studied groups of subjects. The Extraversion scale and the Conscientiousness scale results of the NEO-FFI are significantly higher in the group of athletes compared to controls. The total methylation and the number of methylated islands in the promoter region of the DAT1 gene are higher in the study group. Pearson's linear correlation between the total methylation, the number of methylated islands and the NEO-FFI shows significant results for the Extraversion and Agreeability scales. The total methylation and the number of methylated islands in the promoter region of the DAT1 gene are higher in the study group. Pearson's linear correlation between the total methylation, the number of methylated islands and the NEO-FFI shows significant results for the Extraversion and Agreeability scales. Our analysis of the methylation status of individual CpG sites revealed a new direction of research into the biological aspects of regulating dopamine release and personality traits in people practicing sports.


Subject(s)
Dopamine Plasma Membrane Transport Proteins , Personality , Humans , Dopamine Plasma Membrane Transport Proteins/genetics , Genotype , Phenotype , Personality/genetics , Epigenesis, Genetic
9.
Postepy Hig Med Dosw (Online) ; 68: 1257-63, 2014 Nov 06.
Article in English | MEDLINE | ID: mdl-25380208

ABSTRACT

INTRODUCTION: The human dopamine receptor 2 gene DRD2 plays a central role in susceptibility to Alcohol Dependence Syndrome (ADS). The aim of this study was to evaluate 3 single nucleotide polymorphisms: D2 (rs1076560), Tag1D (rs1800498), Tag1B (rs1079597) located in dopamine receptor 2 DRD2 gene and its role in alcohol dependence. MATERIAL AND METHODS: DNA was provided from alcohol dependent (AD) patients (n=171) and healthy control subjects (n=160) all of Polish descent. The history of alcoholism was obtained using the Polish version of the SSAGA (Semi-Structured Assessment for the Genetics of Alcoholism). We conducted case-control association study and transmission disequilibrium test (TDT). Samples were genotyped using real-time PCR method. RESULTS: We did not confirm the association between studied polymorphisms and alcohol dependence syndrome. TDT reveled an adequate transmission of both alleles in the group of alcohol families. CONCLUSIONS: The lack of association of studied polymorphisms and ADS does not preclude its participation in the pathogenesis. Further research is needed to determine the actual contribution of DRD2 gene in the pathogenesis of alcoholism.


Subject(s)
Alcoholism/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Receptors, Dopamine D2/genetics , Adult , Alleles , Case-Control Studies , DNA/genetics , Disease Susceptibility , Family , Fathers , Female , Genotype , Humans , Male , Middle Aged , Mothers , Poland
10.
Psychiatr Pol ; 48(3): 541-51, 2014.
Article in Polish | MEDLINE | ID: mdl-25204099

ABSTRACT

INTRODUCTION: The combined type of ADHD and alcohol dependence are two different disorders. Research demonstrate that 45-55% of patients diagnosed with ADHD also suffer from comorbid substance abuse, and 11-55% of patients diagnosed with substance abuse suffer from undiagnosed ADHD. Alcohol is by far the most widely used psychoactive substance in the European culture. The serotonin transporter (5HHT) gene has been implicated as one of the candidate genes in both disorders in recent molecular genetic research. AIM: The aim of the present study was to seek a common clinical and biological marker for hyperkinetic disorder and youth drinking. METHODS: The study was conducted between 2008 and 2012. The sample consisted of 100 combined type ADHD patients: 51 adolescents youth drinking and 100 individuals without mental disorders or addiction in a population-based group. The 5HHT gene polymorphism was examined using PCR (Polymerase Chain Reaction). Statistical analysis was conducted with STATISTICA.PL software (version 5.0.97) licensed by StatSoft, Inc. USA. RESULTS: A preferential trend for the "s" short allele of the investigated 5HHT gene polymorphism was observed in all the groups of adolescents compared to the population-based group of adults without alcohol dependence (p = 0.01). CONCLUSION: Based on the conducted study a provisional conclusion may be drawn that the presence of the short "s" allele of the 5HTTgene polymorphism may be a prognostic factor of impulsivity in ADHD and of predisposition to alcohol dependence.


Subject(s)
Alcoholism/genetics , Attention Deficit Disorder with Hyperactivity/genetics , Personality/genetics , Polymorphism, Genetic , Serotonin Plasma Membrane Transport Proteins/genetics , Adolescent , Adult , Alcoholism/metabolism , Attention Deficit Disorder with Hyperactivity/metabolism , Female , Genetic Predisposition to Disease/genetics , Humans , Linkage Disequilibrium , Male , Serotonin Plasma Membrane Transport Proteins/metabolism , Severity of Illness Index , White People/genetics , Young Adult
11.
Genes (Basel) ; 15(3)2024 02 26.
Article in English | MEDLINE | ID: mdl-38540358

ABSTRACT

Gambling Disorder (GD) is characterised by a harmful, enduring, and recurrent involvement in betting-related behaviours. Therefore, GD shares similar biological mechanisms and symptoms to substance use disorders (SUD). Therefore, in this study, we chose the behavioural addictions group. During the examination and recruitment to the study, it turned out that all the people undergoing treatment for gambling addiction were also addicted to amphetamines, which is consistent with the biological mechanism related to cerebral neurotransmission. The aim of the study was to investigate the association of the COMT gene polymorphism with behavioral addiction. The study group consisted of 307 participants: 107 men with gambling disorder and amphetamine dependency (mean age = 27.51, SD = 5.25) and 200 non-addicted, nor dependent, free from neuro-psychiatric disorders control group men (mean age = 20.20, SD = 4.51). Both groups were subjected to psychometric evaluation using the State-Trait Anxiety Inventory and the NEO Five-Factor Personality Inventory. Genomic DNA was extracted from venous blood following standard protocols. Determination of the rs4680 polymorphism in the COMT gene was performed using the real-time PCR technique. Statistically significant differences in the frequency of rs4680 genotypes were found in the tested sample of subjects compared with the control group (p = 0.03543). Subjects with gambling disorder and amphetamine use disorder compared to the control group obtained higher scores in the assessment of the STAI trait scale (p = 0.0019), state scale (p < 0.0000), and NEO-FFI Neuroticism scale (p < 0.0000). Significantly lower results were obtained for the NEO-FFI Agreeability scale (p < 0.0000). Additionally, a significant statistical impact of gambling disorder and amphetamine use disorder, and the COMT rs4680 genotype was demonstrated for the score of the STAI trait (p = 0.0351) and state (p = 0.0343) and the NEO-FFI Conscientiousness scale (p = 0.0018). We conclude that COMT and its polymorphic variant influence the development of addiction. Still, considering its multifactorial and polygenic nature, it should be combined with other factors such as personality.


Subject(s)
Behavior, Addictive , Substance-Related Disorders , Adult , Humans , Male , Young Adult , Amphetamine , Behavior, Addictive/diagnosis , Behavior, Addictive/genetics , Catechol O-Methyltransferase/genetics , Personality/genetics , Polymorphism, Genetic/genetics , Female
12.
Article in English | MEDLINE | ID: mdl-35457612

ABSTRACT

We nowadays record growing numbers of e-cigarette users. The development of nicotine dependence is a result of many factors, including genetics and personality. In this study we analyzed two polymorphisms-rs1985242 and rs1062613-in the serotonin receptor HTR3A gene in a group of e-cigarette users (n = 135) and controls (n = 106). Personality traits were measured using the NEO Five-Factor Inventory. The comparison of e-cigarette users with the control group indicates that the former showed significantly higher scores on the neuroticism scale and lower scores on the scales of extraversion and conscientiousness of the NEO-FFI. Homozygote variants of rs1985242 were more frequent in the study group. The results of the 2 × 3 factorial ANOVA for e-cigarette users and the control group as well as interaction between the HTR3A rs1985242 variants were found for the NEO-FFI conscientiousness scale. These results allow us to conclude that the combination of psychological factors and genetic data creates a possibility for making more complete models of substance use disorders.


Subject(s)
Electronic Nicotine Delivery Systems , Vaping , Personality/genetics , Personality Inventory , Polymorphism, Genetic , Receptors, Serotonin/genetics
13.
Article in English | MEDLINE | ID: mdl-35886451

ABSTRACT

The dopaminergic system is a crucial element of the addiction processes. The dopamine transporter modulates the dynamics and levels of released dopamine in the synaptic cleft. Therefore, regulation of dopamine transporter (DAT1) gene expression is critical for maintaining homeostasis in the dopaminergic system. The aim of our study is evaluation of the methylation status of 33 CpG islands located in the DAT1 gene promoter region related to nicotine dependency. We investigated 142 nicotine-dependent subjects and 238 controls. Our results show that as many as 14 of the 33 CpG islands tested had statistically significantly higher methylation in the nicotine-dependent group compared to the control group. After applying Bonferroni correction, the total number of methylation sites was also significantly higher in the dependent subjects group. The analysis of the methylation status of particular CpG sites revealed a new direction of research regarding the biological aspects of nicotine addiction.


Subject(s)
Dopamine Plasma Membrane Transport Proteins , Tobacco Use Disorder , CpG Islands , DNA Methylation , Dopamine Plasma Membrane Transport Proteins/genetics , Humans , Nicotine , Promoter Regions, Genetic , Tobacco Use Disorder/genetics
14.
Article in English | MEDLINE | ID: mdl-36078193

ABSTRACT

Smoking is a chronic and relapsing addictive trait that harms public health. Among the many identified genetic variants of nicotine dependence, the variants in the CHRNA5/A3/B4 gene cluster on chromosome 15 that encode the α5, α3, and ß4 subunits have recently received a lot of attention. Importantly, variants in this gene cluster have been associated with nicotine addiction. Among the many significant variants in this cluster, the polymorphism SNP rs16969968 seems to be the most interesting factor in nicotine addiction. This polymorphism causes an amino acid change from aspartate to asparagine at position 398 of the α5 nicotinic receptor protein sequence. Our study aimed to analyze three polymorphic variants: the rs16969968 located in the CHRNA5 gene, the rs578776 and rs1051730 located in the CHRNA3 gene in nicotine-addicted subjects, and in controls. Our study encompasses an association analysis of genotypes and haplotypes. A group of 401 volunteers was recruited for the study and divided into two groups: the study group consisted of addicted smokers and a control group of 200 unrelated non-smokers who were not dependent on any substance and healthy. A statistically significant difference was observed in the frequency of genotypes of the rs1051730 polymorphism of the CHRNA3 gene (χ2 = 6.704 p = 0.035). The T/T genotype was statistically significantly more frequent in the group of nicotine-dependent subjects. The haplotypes rs16969968, rs578776, and rs1051730 were distinguished, of which the G-T-T and G-C-T haplotypes were present only in the study group. With differences in frequencies, statistical significance was noted-for the G-T-T haplotype p = 0.01284 and the G-C-T haplotype p = 0.00775. The research stated that novel haplotypes G-T-T and G-C-T, though with very low-frequency variants in CHRNA3, were associated with nicotine addiction.


Subject(s)
Receptors, Nicotinic , Tobacco Use Disorder , Genetic Predisposition to Disease , Humans , Nerve Tissue Proteins/genetics , Nicotine , Polymorphism, Single Nucleotide , Receptors, Nicotinic/genetics , Tobacco Use Disorder/epidemiology , Tobacco Use Disorder/genetics
15.
Psychiatr Pol ; 45(3): 349-56, 2011.
Article in Polish | MEDLINE | ID: mdl-22232965

ABSTRACT

According to last findings, one of the most commonly studied polymorphisms in psychiatry-Taq1A is located in the ANNK1 (Ankyrin Repeat and Kinase Domain containing 1) gene, not in the dopamine receptor 2 (DRD2) gene. This polymorphism has been extensively studied in relation to alcohol, nicotine and drugs addiction, eating disorders, ADHD, schizophrenia and pharmacogenetics. The ANKK1 gene contains single serine/threonine kinase domain and 11 ankyrin repeats. ANKK1 belongs to RIP (Receptor-Interacting Protein) serine/threonine kinase family. These kinases are important in cell proliferation, differentiation and activate transcription factors. DRD2 gene is probably regulated by ANKK1 through NF-kappaB (Nuclear Factor-kappaB). ANKK1 is activated by apomorphine-dopaminergic agonist, which indicates another link with the dopaminergic system. It seems accurate to search for associations of polymorphisms in ANKK1 gene with dopaminergic system disorders.


Subject(s)
Ankyrin Repeat/genetics , Mental Disorders/genetics , Polymorphism, Genetic , Protein Serine-Threonine Kinases/genetics , Signal Transduction/genetics , Gene Frequency , Humans , Mental Disorders/classification , Psychiatry
16.
Article in English | MEDLINE | ID: mdl-32375337

ABSTRACT

Periodontal diseases are multiperspective problems resulting from numerous and diverse exposures that influence the process of initiation or progression of disease. The negative influence of tobacco smoking on oral health is well documented. The aim of the study was to analyze three SNPs in vitamin D receptor gene-rs7975232 (ApaI), rs2228570 (FokI) and rs1544410 (BsmI)-combined with oral health assessment-pH, gingival index, dry mouth, periodontitis, dry socket, redness of oral cavity mucosa, leukoplakia-in a group of cigarette smokers and in non-smokers. Moreover, the possibility of interactions between these polymorphisms and smoking was examined. When comparing the smokers and non-smokers groups, we noticed that rs1544410 heterozygotes were significantly more frequent in the first group, and for the second, both homozygotes were more frequent. Additionally, we observed the impact of interaction between the rs7975232 genotype and smoking status on gingival index. Current smoking was also associated with all analyzed oral health measures except for leucoplakia. Correlation between pH and age in both smokers and non-smokers was also present. Results of our analysis indicate that in our study group lifestyle and aging were leading factors associated with worse oral health status. However, the impact of genetic variants, and also the impact of their interaction with smoking on analyzed parameters was also visible. These results show great possibilities for all levels of prevention of oral diseases by means of education based on evidence-based medicine, but also for incorporating genetic testing and early interventions into this process for predisposed individuals.


Subject(s)
Cigarette Smoking , Oral Health , Receptors, Calcitriol , Case-Control Studies , Genetic Predisposition to Disease , Humans , Polymorphism, Single Nucleotide , Receptors, Calcitriol/genetics
17.
J Hum Kinet ; 72: 79-89, 2020 Mar.
Article in English | MEDLINE | ID: mdl-32269650

ABSTRACT

Personality traits, especially in sport are modulatory factors of athletes' behavior - his/ her conscientiousness, the will to achieve an aim, perseverance and motivation of activity. Not only are biological predispositions related to anatomical or biochemical traits of success, but they are also largely determined by personality traits that result from genetic factors. In our research we joined tests of athlete's personality in correlation with genotypes of the dopamine transporter (DAT1) gene polymorphism. The selection of this polymorphism was based on previous reports connecting the influence of dopamine with motivation and numerous arguments supporting its correlation with human behavior. We observed significant differences among polymorphisms DAT 9/9, 9/10, 10/10 in terms of proportion of particular genotypes between athletes and the control group. We also found significant differences in the NEO FFI sten scale for conscientiousness. We noticed that anxiety was related with genotypic variants of DAT1, specifically the 9/10 VNTR variant, which conditioned lower levels of anxiety in the group of tested athletes. By contrast, the lower sten value of agreeability was statistically significant for the group of athletes that were carriers of the 10/10 VNTR genotype. Heterozygous 9/10 VNTR among athletes showed lower levels of anxiety in comparison with the control group, whereas agreeability determined using the NEO FFI scale represented a lower value among athletes that had the 10/10 polymorphism. We may thus conclude that the presence of polymorphic variants of the dopamine transporter gene corresponds to athletes' personality traits.

18.
Ann Agric Environ Med ; 27(2): 260-268, 2020 Jun 19.
Article in English | MEDLINE | ID: mdl-32588603

ABSTRACT

INTRODUCTION: Marijuana is one of the most widely used psychoactive substance. There is evidence of genetic predisposition for addiction. OBJECTIVE: The aim of the study is to evaluate personality traits measured by the NEO Five-Factor Inventory and State-Trait Anxiety Inventory, combined with analysis of Tag1B rs1079597 and Tag1D rs1800498 located in the DRD2 gene. MATERIAL AND METHODS: The study group consisted of 214 rural cannabinoid users and 301 controls. The same psychometric test and real-time PCR genotyping were performed in both studied groups. RESULTS: The values of Anxiety state, Anxiety trait, NEO FFI: Neuroticism and Openness in the rural cannabis using group were significantly higher than in the control group. On the other hand, lower values were observed among rural people using cannabis compared to the control group for NEO FFI: Extraversion, Agreeability and Conscientiousness. In the Anxiety trait subscale, a 2% association with the polymorphism DRD2 Tag1B rs1079597 was detected in subjects using cannabis. However, for the DRD2 Tag1D rs1800498, there was no effect on the differences in personality traits between rural cannabis users and the control group. CONCLUSIONS: The study shows differences in personality traits between the cannabis using group and controls. Interaction between genetic factors and personality traits was also detected. The association showing the combination of psychological characteristics and genetic variants can bring us closer to the overall picture of the issue of marijuana addiction.


Subject(s)
Cannabis , Drug Users/psychology , Personality/genetics , Polymorphism, Genetic , Receptors, Dopamine D2/genetics , Rural Population/statistics & numerical data , Adult , Humans , Male , Personality Tests , Poland , Receptors, Dopamine D2/metabolism , Young Adult
19.
Ann Agric Environ Med ; 27(2): 269-273, 2020 Jun 19.
Article in English | MEDLINE | ID: mdl-32588604

ABSTRACT

INTRODUCTION: Substance abuse significantly influences human health and may induce problems with social functioning worldwide. Numerous genetic and environmental risk factors, as well as their interactions, accelerate the development of drug addiction. Etiologically, the dopaminergic mesocorticolimbic reward pathways are related to psychoactive substance addiction, and the reward properties of heroin are connected with changes in the mesolimbic dopaminergic system. OBJECTIVE: The aim of this study is a haplotypic analysis of subjects addicted to polysubstance. However, with the knowledge that this is not a homogenous subgroup, it was decided to separate and analyze homogenous subgroups of subjects in order to find specific haplotypic variants among them. The subjects in the subgroups were addicted to heroin, and subjects with more than two relapses in the past two years. MATERIAL AND METHODS: The study group comprised of 301 polysubstance addicted rural male subjects. From this group, 2 homogenous subgroups of subjects were isolated and additionally analyzed: (1) a group of heroin addicted subjects (n=61), and (2) a group of heroin-addicted subjects with at least two relapses in the last two years (n=21). The group consisting of all polysubstance addicted rural subjects and both homogenous subgroups were analyzed against a control group of non-addicted subjects (n=300), matching gender and age. Five polymorphisms in the DRD2/ANKK1 region were analyzed: rs1076560, rs1800498, rs1079597, rs6276 in the DRD2 gene, and rs1800497 in the ANKK1 gene. RESULTS: A statistically significant haplotype association was found in analysis of the heroin addicted subjects, compared to controls, and two possible trends - when comparing the whole group of addicted subjects to controls, and in relapse subgroups, compared to the controls. CONCLUSIONS: The results obtained showed that haplotypes indicate a part of the biological component of addiction.


Subject(s)
Heroin Dependence/genetics , Protein Serine-Threonine Kinases/genetics , Receptors, Dopamine D2/genetics , Rural Population/statistics & numerical data , Adult , Heroin Dependence/etiology , Heroin Dependence/psychology , Humans , Male , Middle Aged , Poland , Recurrence
20.
Article in English | MEDLINE | ID: mdl-31948125

ABSTRACT

Presently, a growing popularity of electronic cigarettes may be observed. Used as a means of obtaining nicotine they allow to substitute traditional cigarettes. The origins of substance use disorders are conditioned by dopaminergic signaling which influences motivational processes being elementary factors conditioning the process of learning and exhibiting goal-directed behaviors. The study concentrated on analysis of three polymorphisms located in the dopamine receptor 2 (DRD2) gene-rs1076560, rs1799732 and rs1079597 using the PCR method, personality traits determined with the Big Five Questionnaire, and anxiety measured with the State Trait Anxiety Inventory. The study was conducted on a group of 394 volunteers, consisting e-cigarette users (n = 144) and controls (n = 250). Compared to the controls the case group subjects achieved significantly higher scores in regard to the STAI state and the trait scale, as well as the NEO-FFI Neuroticism and Openness scale. Likewise, in the case of the STAI state for DRD2 rs1076560 significant differences were found. Furthermore, while comparing the groups (e-cigarette users vs. controls) we noticed interactions for the NEO FFI Neuroticism and DRD2 rs1076560. The same was observed in the case of interactions significance while comparing groups (e-cigarette users vs. controls) for the STAI trait/scale and DRD2 rs1799732. Findings from this study demonstrate that psychological factors and genetic determinants should be analyzed simultaneously and comprehensively while considering groups of addicted patients. Since the use, and rapid increase in popularity, of electronic cigarettes has implications for public health, e-cigarette users should be studied holistically, especially younger groups of addicted and experimenting users.


Subject(s)
Electronic Nicotine Delivery Systems , Personality , Receptors, Dopamine D2/genetics , Substance-Related Disorders/psychology , Vaping/psychology , Adolescent , Adult , Anxiety/psychology , Case-Control Studies , Female , Humans , Male , Neuroticism , Nicotine , Personality Inventory/statistics & numerical data , Phenotype , Polymorphism, Genetic , Substance-Related Disorders/genetics , Surveys and Questionnaires , Vaping/genetics , Young Adult
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