Elżbieta Grochans

Functional polymorphism of matrix metalloproteinase-9 (MMP-9) gene in alcohol dependence: Family and case control study

AIM Matrix metalloproteinases (MMP) are extracellularly acting endopeptidases, whose substrates are extracellular matrix and adhesion proteins. In the gene polymorphism studies MMP-9 has been suggested to be involved in the pathogenesis of heart disease, cancer, bipolar disorder, and schizophrenia. In animal models MMP-9 has been shown to play a key role in a variety of neuronal plasticity phenomena, including learning and memory as well as drug addiction. METHOD We studied 139 families, Caucasians, with no history of psychiatric disorder of ICD-10 other than alcohol or nicotine dependence. The control subjects were 136 unrelated individuals, matched for ethnicity and gender, with no mental disorder. Alcohol and family history of alcoholism were assessed by means of a structured interview, based on the Polish version of SSAGA (Semi-Structured Assessment on Genetics in Alcoholism). RESULTS We found a statistically significant preferential transmission of the T allele (known to produce higher gene transcriptional activity) from parents to alcoholics (59%, p=0.046). In a case-control study genotype TT and T alleles were significantly more frequent in the alcoholics than in the controls (OR=2.6). CONCLUSION Our results suggest that the MMP-9 gene may play a role in the pathogenesis of alcohol dependence.

Influence of DRD2 and ANKK1 polymorphisms on the manifestation of withdrawal syndrome symptoms in alcohol addiction

BACKGROUND We investigated the relationship between withdrawal syndrome symptoms and dopamine receptor 2 DRD2 gene polymorphisms-141 C I/D (rs1799732) exon 8 G/A (rs6276) and ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1) gene polymorphism Taq1A (rs1800497). MATERIAL A total number of 213 patients who met the ICD 10 criteria for given phenotypes were enrolled in the study. Those phenotypes included: dissocial personality disorder, early onset, alcohol withdrawal syndrome with seizures, alcohol withdrawal syndrome with delirium tremens, and alcohol withdrawal syndrome with seizures and delirium tremens. RESULTS Our results show statistically significant associations between SNP in exon 8 A/G in the DRD2 gene and alcohol withdrawal syndrome with seizures, and between SNP in promoter -141 C I/D in the DRD2 gene and early onset of alcohol dependence (AD). The A/A genotype in exon 8 A/G polymorphism seems to be a positive predictive factor for the presence or the lack of seizures in alcohol withdrawal syndrome. The A/G genotype is possibly a protective factor for this AD phenotype. CONCLUSIONS These results suggest that both investigated DRD2 polymorphisms have an impact on the AD phenotype. The findings of the presented study reconfirm that dopamine receptor 2 gene polymorphisms are associated with alcohol addiction and alcohol withdrawal syndrome.

Effects of Socio-Demographic, Personality and Medical Factors on Quality of Life of Postmenopausal Women

Numerous studies show that changes occurring in a woman’s organism during menopause may lower her quality of life. This study involved 630 healthy postmenopausal women from Poland. Its purpose was to assess their quality of life in relation to socio-demographic variables, medical data and personality profiles. The authors used the Short Form Health Survey (SF-36) to assess quality of life, the NEO-Five Factor Inventory to measure personality traits, and the Blatt-Kupperman Menopausal Index to estimate severity of climacteric symptoms. The study demonstrated significant relationships between quality of life and variables such as: age, education, employment status, and the use of menopausal hormone therapy. An analysis of personality traits revealed correlations between the openness to experience scores and the quality of life within physical functioning, vitality, and mental health. Neuroticism, agreeableness and extroversion significantly correlated with all quality of life domains. Conclusions: (1) Age, education and employment status have significant effects on the selected quality of life domains after menopause. (2) Quality of life within the general health domain was assessed lower by MHT-users (Menopausal hormone theraphy (MHT)). (3) Health-related quality of life is also influenced by personality traits, which are relatively stable throughout life.

Evaluation of the Relationship between 5-HTT and MAO Gene Polymorphisms, Mood and Level of Anxiety among Postmenopausal Women

Objective: The aim of this study was to analyze how mood and anxiety level are related to the functional genetic polymorphism in the promoter region of SLC6A4 (5-HTTLPR) and the 30-bp VNTR polymorphism in the MAO A promoter region. Methods: The study involved 272 postmenopausal women from Poland. The authors employed the State-Trait Anxiety Inventory for measuring levels of anxiety, the Mood Adjective Check List for measuring mood, and genetic tests. Results: Analysis did not show any statistically significant differences in the mean levels of anxiety, and mood disorders in women in relation to genotypes of the 5-HTTLPR (SLC6A4) polymorphism and the 30-bp VNTR polymorphism in the MAO A promoter region. However, these problems were more severe among women with s/s genotype. In the case of MAO A gene polymorphism, the level of anxiety was higher in women with a 4/4 genotype. Conclusions: The study did not prove the possibility of the identification of homogeneous groups of women with an elevated risk of developing anxiety and mood disorders during the post-menopausal period. Nevertheless, it showed that respondents with s/s genotype of the 44-bp polymorphism in the 5-HTT (SLC6A4) promoter region had the highest average anxiety levels both as a state and as a trait. Furthermore, the analysis of the 30-bp VNTR polymorphism in the MAO A promoter region demonstrated slight differences in anxiety levels between the women, indicating that those with a 4/4 genotype had higher severity of anxiety symptoms.

Erratum to: Analysis of Relations Between the Level of Mg, Zn, Ca, Cu, and Fe and Depressiveness in Postmenopausal Women.

In the above-mentioned article, the author namesMałgorzata Szkup, Anna Jurczak, Aleksandra Brodowska, Agnieszka Brodowska, Iwona Noceń, Dariusz Chlubek, Maria Laszczyńska, Beata Karakiewicz and Elżbieta Grochans were written incorrectly; the words in each name were out of sequence. However, these errors have been corrected already in both the referenced article and in the author listing for this article. The authors regret the oversight.

Monoamine Oxidase A Promoter Variable Number of Tandem Repeats (MAOA-uVNTR) in Alcoholics According to Lesch Typology

Background: The aim of this study was to examine the association between the MAOA-uVNTR gene polymorphism in a homogeneous subgroups of patients with alcohol dependence categorized according to Lesch’s typology. Methods: DNA was provided from alcohol dependent (AD) patients (n = 370) and healthy control subjects (n = 168) all of Polish descent. The history of alcoholism was obtained using the Polish version of the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA). Samples were genotyped using PCR methods. Results: We found no association between alcohol dependence and MAOA gene polymorphism. Conclusions: Lesch typology is a clinical consequence of the disease and its phenotypic description is too complex for a simple genetic analysis.

Serum Mg and Zn levels in postmenopausal women

Approximately 30% of a womans life is spent in the postmenopausal period. This is when steroid hormone deficiency is often accompanied by mineral homeostasis perturbations and deficiencies that could be related to the intensity of any clinical symptoms. The aim of this study was to assess how serum Mg and Zn levels in postmenopausal women correlate with climacteric symptoms, body mass index (BMI), and the time interval since the final menstruation. The study involved 171 healthy, postmenopausal women, who had had their final menstruation at least one year prior to the study and who did not use menopausal hormone therapy. Both hypomagnesaemia and hypozincaemia were detected in the postmenopausal women involved in this study. The analysis revealed statistically significant differences between serum Mg levels, depending on the time interval since the final menstruation (p<0.05). No statistically significant differences were found in serum Mg and Zn levels between women as regards the severity of the climacteric symptoms or BMI (p>0.05). In conclusion, serum Mg and Zn concentrations in postmenopausal women, not using MHT, were low. The average serum Mg levels decreased considerably with the time since the final menstruation. No correlation between BMI and worsening of climacteric symptoms and serum Mg and Zn concentrations in postmenopausal women, not using MHT was found.

Analysis of Sociodemographic, Psychological, and Genetic Factors Contributing to Depressive symptoms in Pre-, Peri- and Postmenopausal Women

Depressive symptoms that are faced by women in the pre-, peri-, and postmenopausal periods are determined by a wide array of sociodemographic, psychological, and biological variables. The aim of our study was to identify factors that contribute to depressive problems at this stage of life. The study included 815 healthy Polish women aged 45–60 years. The survey part was conducted using the Beck Depression Inventory (BDI), the State–Trait Anxiety Inventory (STAI), the Neuroticism–Extroversion–Openness Five Factor Inventory (NEO-FFI), and a self-developed questionnaire. Genetic analysis was also performed. Depressive symptoms were observed in 25.5% of participants. 70% of the women were postmenopausal. No statistically significant differences in the severity of depressive symptoms were demonstrated with regard to genetic variables (p > 0.05). Reproductive capacity (p < 0.001), employment (p < 0.001), and being married (p < 0.018) were found to reduce the incidence of depressive symptoms. The contribution of personality and anxiety as a trait to depressive symptoms varied. Conclusions: The factors predisposing pre-, peri-, and postmenopausal women to depressive symptoms include lower education, lack of a life partner, unemployment, high anxiety, and neurotic personality. No evidence was found for the contribution of genetic factors to depressive symptoms in the examined women.

Influence of cigarette smoking on hormone and lipid metabolism in women in late reproductive stage

Background The aim of the study was to analyze lipid and hormone metabolism, body mass index (BMI), and age parameters in late reproductive stage women in relation to cigarette smoking. Methods The study enrolled 345 healthy late reproductive stage women living in Poland; 13.33% were smokers. The first part of the study assessed lipid metabolism (total cholesterol, high-density lipoprotein [HDL], low-density lipoprotein [LDL], and triglycerides) and hormone metabolism (estradiol [E2], follicle-stimulating hormone [FSH], and anti-Müllerian hormone [AMH] levels) in women in the early phase of the follicular menstrual cycle. The second part of study was carried out using the diagnostic survey method, with a standardized questionnaire (Primary Care Evaluation of Mental Disorders [PRIME-MD]) and the authors’ own research tools. Results The women were aged 42.3±4.5 years (mean ± SD). The BMI (24.8±4.04 kg/m2) did not differ significantly between the groups. The women who smoked cigarettes had a statistically significantly (p<0.05) lower level of HDL as well as higher LDL and triglyceride levels (p<0.05). Differences were also shown in hormone levels: non-smoking participants had statistically significantly higher levels of E2 and FSH (p<0.05). In the group of non-smoking women, age was a predictor exerting a significant positive impact on the levels of total cholesterol, LDL, triglycerides, and AMH (p<0.05). BMI contributed to a decline in HDL and triglyceride levels. In the group of smoking women, age significantly positively influenced the level of E2, and negatively influenced AMH. BMI was associated with a significant decrease in the HDL level. Conclusion Smoking cigarettes affects the physical health of women in late reproductive stage through negative influences on lipid and hormone metabolism, among other factors. Age is an unmodifiable factor adversely affecting both lipids and hormones. Higher BMI has a negative influence on lipid metabolism in both groups of women in this study.

Searching for the relationship between the parameters of metabolic syndrome and the rs17782313 (T>C) polymorphism of the MC4R gene in postmenopausal women

Metabolic syndrome (MS) is widespread in the human population, and its incidence is continuously increasing, generating serious health problems. The purpose of this study was to find the relationship between the parameters of MS and the melanocortin type 4 receptor (MC4R) gene polymorphism in postmenopausal women. The study involved 344 healthy Polish women, who had their last menstrual cycle 1 year ago or earlier. The study included blood analysis, survey, and body measurements. The mean age was 58.5±6.6 years. An increased body mass index was observed in 65.7% and abdominal obesity in 80.3% of the study population. MS was diagnosed in 40.7% of all participants, including 39.3% of women with the T/T genotype and 44.7% of those with the C/X genotype (χ2 test; P>0.05). A logistic regression model showed that the probability of MS was higher in patients with the C/X genotype (odds ratio =1.25) (χ2 test; P>0.05). The study concluded that MS is a very common condition among postmenopausal women. The C/X genotype of the MC4R gene seems to predispose postmenopausal women to developing some MS symptoms.