Suicide is a significant public health issue and a major cause of death throughout the world. Acc... more Suicide is a significant public health issue and a major cause of death throughout the world. According to WHO it accounts for almost 2 % of deaths worldwide. The etiology of suicidal behavior is complex but the results of many studies suggest that genetic determinants are of significant importance. In our study,- we have analyzed selected SNPs polymorphisms in the DRD2 and ANKK1 genes in patients with alcohol dependence syndrome (169 Caucasian subjects) including a subgroup of individuals (n561) who have experienced at least one suicide attempt. The aim of the study was to verify if various haplotypes of selected genes, comprising Taq1A, Taq1B, and Taq1D single nucleotide polymorphisms (SNP), play any role in the development of alcohol dependence and suicidal behavior. The control group comprised 157 unrelated individuals matched for ethnicity, gender,- and age and included no individuals with mental disorders. All subjects were recruited in the North West region of Poland. The stu...
Cel pracyCelem przedstawionego badania było wykazanie związku pomiędzy wybranymi polimorfizmami g... more Cel pracyCelem przedstawionego badania było wykazanie związku pomiędzy wybranymi polimorfizmami genu receptora dopaminy DRD2 a uzależnieniem od narkotyków.MetodaW badaniu zrekrutowano 100 osób uzależnionych od narkotyków, leczonych w stacjonarnych ośrodkach leczenia uzależnień na terenie Polski. Uczestnicy zostali przebadani z zastosowaniem ustrukturyzowanego wywiadu klinicznego SSAGA celem opisania obrazu klinicznego. W drugiej części, przebadano uczestników z zastosowaniem narzędzi psychometrycznych oceniających wybrane cechy psychopatologiczne. Od każdego z uczestników pobrano krew celem izolacji DNA, z którego oznaczono następujące polimorfizmy SNP genu DRD2: Tag 1D (rs1800498), Tag 1B (rs 1079597), rs 1076560.WynikiW badaniu asocjacyjnym wykazano związek polimorfizmu Tag D1 z uzależnieniem od narkotyków, gdzie wariant alleliczny T pojawiał się częściej w grupie badanej w stosunku do grupy kontrolnej. Związek ten okazał się jeszcze silniejszy w podgrupach pacjentów uzależnionych...
Introduction: Studies aimed at the identification of potential risk factors of the alcohol depend... more Introduction: Studies aimed at the identification of potential risk factors of the alcohol dependence syndrome (ADS) and, consequently, of risk groups of this condition that should be subjected to preventive programs, are being undertaken since many years. The aims of this study were (1) to analyze the effects of polymorphisms in the GABRA2 gene on the risk of alcoholism; (2) to determine associations between some genetic markers basing on haplotype analysis; Material and methods: The study included 305 Caucasian males, among them 156 patients with ADS and 149 controls. These two groups, were compared as to the frequencies of haplotypes of the following polymorphisms: rs 279826, rs 279871, 279845 of the GABRA2 gene. All subjects were recruited in the North West region of Poland. Alcohol use and family history of alcoholism were assessed by means of a structured interview, based on the Polish version of Semi-Structured Assessment on Genetics in Alcoholism (SSAGA). Genomic DNA was extracted from venous blood. Polymorphisms were detected using PCR real time method. Conclusions: Significant relationships documented by the haplotype analysis of ADS patients point to the usefulness of haplotype constructions in etiopathogenetic studies of ADS. The protective haplotype was G-G-A (p=0,01). In conclusion, larger – possibly multicentre – studies are needed to finally uncover the role of GABRA2 gene in determining ADS. Moreover, other candidate genes with a possible impact on the phenotype of alcohol-dependent individuals should be sought. Supported by grant of Ministry of Science and Higher Education (MNiSW no.: NN 402466540).
The dopaminergic system plays a crucial role in the development of alcohol dependence. Regulation... more The dopaminergic system plays a crucial role in the development of alcohol dependence. Regulation of the extracellular dopamine concentration is driven by dopamine transporter. Both, the expression and function of dopamine transporter, are influenced by chronic alcohol intake. Dopamine transporter (DAT) gene is also supposed to be differentially methylated in alcohol-dependent patients than in controls. DNA was extracted from peripheral blood leukocytes. We analyzed the methylation status in 23 CpG islands of DAT gene promoter in alcohol dependent subjects (n = 171) and control (n = 160) group. No statistical differences in the general frequency of DAT CpG islands was revealed between patients (altogether 175 methylated islands) and control subjects (170 methylated islands (p = 0.86). However it was revealed that one of analyzed positions is significantly more often methylated in control subjects than in alcohol dependent individuals (p = 0.0296). Further subsequent studies are necessary to determine whether the methylation change of one (out of 23) CpG site results in DAT expression changes.
The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs ... more The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs 6276) in the promoter region -141 C Ins/Del (rs1799732) and the influence of ANKK-1 gene Taq-1A polymorphism (rs 1800497) on the preference of increasing sucrose concentrations in men with alcohol dependence. 63 male patients with alcohol dependence were genotyped for the above polymorphisms. Their preference for increasing sucrose concentrations was tested and their taste intensity perception of sucrose solutions was assessed. The patients were tested with the 'Sniffin' Sticks' olfactory test. We found a statistically significant association between some alleles of ANKK 1 gene Taq 1A polymorphisms and sucrose preference in the subjects. The A1 Taq 1A allele determined hedonistic response to the two highest concentrations of sucrose. No association was found regarding the other two polymorphisms (in the promoter region and in the exon 8 of the DRD2 gene). Study results sugges...
ABSTRACT Lithium treatment history goes far back before it was thoroughly described in the litera... more ABSTRACT Lithium treatment history goes far back before it was thoroughly described in the literature which is now available to us. However, disorders that were initially treated with lithium salts were completely unrelated to psychiatry. The article “Lithium salts in the treatment of psychotic excitement” from 1949 written by John Cade is considered to be the introduction of lithium to modern psychiatric therapy and the beginning of modern clinical psychopharmacology. In the present treatment guidelines for bipolar disorders lithium is recommended as a first-line maintenance therapy. What is worth mentioning is that the number of indications, including major depressive disorder, for instance, is growing. In addition, numerous meta-analyses focused on antisuicidal effect of lithium therapy were also performed. On the basis of the most recent literature available in this paper we presented indications for the preventive use of lithium for such disorders as mania, bipolar disorder as well as the occurrence of depressive episodes in major depressive disorder. It is worth pointing out that some studies indicate lithium to be the only medicine proved to be effective for mood stabilization. Interactions between lithium and other medicines were described in detail. In this paper we also described and discussed possible side effects of lithium therapy, including renal failure, hypothyroidism, hyperparathyroidism, weight gain and teratogenicity.
Suicide is a significant public health issue and a major cause of death throughout the world. Acc... more Suicide is a significant public health issue and a major cause of death throughout the world. According to WHO it accounts for almost 2 % of deaths worldwide. The etiology of suicidal behavior is complex but the results of many studies suggest that genetic determinants are of significant importance. In our study,- we have analyzed selected SNPs polymorphisms in the DRD2 and ANKK1 genes in patients with alcohol dependence syndrome (169 Caucasian subjects) including a subgroup of individuals (n561) who have experienced at least one suicide attempt. The aim of the study was to verify if various haplotypes of selected genes, comprising Taq1A, Taq1B, and Taq1D single nucleotide polymorphisms (SNP), play any role in the development of alcohol dependence and suicidal behavior. The control group comprised 157 unrelated individuals matched for ethnicity, gender,- and age and included no individuals with mental disorders. All subjects were recruited in the North West region of Poland. The stu...
Cel pracyCelem przedstawionego badania było wykazanie związku pomiędzy wybranymi polimorfizmami g... more Cel pracyCelem przedstawionego badania było wykazanie związku pomiędzy wybranymi polimorfizmami genu receptora dopaminy DRD2 a uzależnieniem od narkotyków.MetodaW badaniu zrekrutowano 100 osób uzależnionych od narkotyków, leczonych w stacjonarnych ośrodkach leczenia uzależnień na terenie Polski. Uczestnicy zostali przebadani z zastosowaniem ustrukturyzowanego wywiadu klinicznego SSAGA celem opisania obrazu klinicznego. W drugiej części, przebadano uczestników z zastosowaniem narzędzi psychometrycznych oceniających wybrane cechy psychopatologiczne. Od każdego z uczestników pobrano krew celem izolacji DNA, z którego oznaczono następujące polimorfizmy SNP genu DRD2: Tag 1D (rs1800498), Tag 1B (rs 1079597), rs 1076560.WynikiW badaniu asocjacyjnym wykazano związek polimorfizmu Tag D1 z uzależnieniem od narkotyków, gdzie wariant alleliczny T pojawiał się częściej w grupie badanej w stosunku do grupy kontrolnej. Związek ten okazał się jeszcze silniejszy w podgrupach pacjentów uzależnionych...
Introduction: Studies aimed at the identification of potential risk factors of the alcohol depend... more Introduction: Studies aimed at the identification of potential risk factors of the alcohol dependence syndrome (ADS) and, consequently, of risk groups of this condition that should be subjected to preventive programs, are being undertaken since many years. The aims of this study were (1) to analyze the effects of polymorphisms in the GABRA2 gene on the risk of alcoholism; (2) to determine associations between some genetic markers basing on haplotype analysis; Material and methods: The study included 305 Caucasian males, among them 156 patients with ADS and 149 controls. These two groups, were compared as to the frequencies of haplotypes of the following polymorphisms: rs 279826, rs 279871, 279845 of the GABRA2 gene. All subjects were recruited in the North West region of Poland. Alcohol use and family history of alcoholism were assessed by means of a structured interview, based on the Polish version of Semi-Structured Assessment on Genetics in Alcoholism (SSAGA). Genomic DNA was extracted from venous blood. Polymorphisms were detected using PCR real time method. Conclusions: Significant relationships documented by the haplotype analysis of ADS patients point to the usefulness of haplotype constructions in etiopathogenetic studies of ADS. The protective haplotype was G-G-A (p=0,01). In conclusion, larger – possibly multicentre – studies are needed to finally uncover the role of GABRA2 gene in determining ADS. Moreover, other candidate genes with a possible impact on the phenotype of alcohol-dependent individuals should be sought. Supported by grant of Ministry of Science and Higher Education (MNiSW no.: NN 402466540).
The dopaminergic system plays a crucial role in the development of alcohol dependence. Regulation... more The dopaminergic system plays a crucial role in the development of alcohol dependence. Regulation of the extracellular dopamine concentration is driven by dopamine transporter. Both, the expression and function of dopamine transporter, are influenced by chronic alcohol intake. Dopamine transporter (DAT) gene is also supposed to be differentially methylated in alcohol-dependent patients than in controls. DNA was extracted from peripheral blood leukocytes. We analyzed the methylation status in 23 CpG islands of DAT gene promoter in alcohol dependent subjects (n = 171) and control (n = 160) group. No statistical differences in the general frequency of DAT CpG islands was revealed between patients (altogether 175 methylated islands) and control subjects (170 methylated islands (p = 0.86). However it was revealed that one of analyzed positions is significantly more often methylated in control subjects than in alcohol dependent individuals (p = 0.0296). Further subsequent studies are necessary to determine whether the methylation change of one (out of 23) CpG site results in DAT expression changes.
The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs ... more The aim of the study was to determine the influence of DRD2 gene polymorphisms in exon 8 G/A (rs 6276) in the promoter region -141 C Ins/Del (rs1799732) and the influence of ANKK-1 gene Taq-1A polymorphism (rs 1800497) on the preference of increasing sucrose concentrations in men with alcohol dependence. 63 male patients with alcohol dependence were genotyped for the above polymorphisms. Their preference for increasing sucrose concentrations was tested and their taste intensity perception of sucrose solutions was assessed. The patients were tested with the 'Sniffin' Sticks' olfactory test. We found a statistically significant association between some alleles of ANKK 1 gene Taq 1A polymorphisms and sucrose preference in the subjects. The A1 Taq 1A allele determined hedonistic response to the two highest concentrations of sucrose. No association was found regarding the other two polymorphisms (in the promoter region and in the exon 8 of the DRD2 gene). Study results sugges...
ABSTRACT Lithium treatment history goes far back before it was thoroughly described in the litera... more ABSTRACT Lithium treatment history goes far back before it was thoroughly described in the literature which is now available to us. However, disorders that were initially treated with lithium salts were completely unrelated to psychiatry. The article “Lithium salts in the treatment of psychotic excitement” from 1949 written by John Cade is considered to be the introduction of lithium to modern psychiatric therapy and the beginning of modern clinical psychopharmacology. In the present treatment guidelines for bipolar disorders lithium is recommended as a first-line maintenance therapy. What is worth mentioning is that the number of indications, including major depressive disorder, for instance, is growing. In addition, numerous meta-analyses focused on antisuicidal effect of lithium therapy were also performed. On the basis of the most recent literature available in this paper we presented indications for the preventive use of lithium for such disorders as mania, bipolar disorder as well as the occurrence of depressive episodes in major depressive disorder. It is worth pointing out that some studies indicate lithium to be the only medicine proved to be effective for mood stabilization. Interactions between lithium and other medicines were described in detail. In this paper we also described and discussed possible side effects of lithium therapy, including renal failure, hypothyroidism, hyperparathyroidism, weight gain and teratogenicity.
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