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Journal Article 2006; 27(1-2): 236-240 PubMed PMID: 16648784 Citation  Keywords:  Adolescent, Alleles, Attention Deficit Disorder with Hyperactivity:epidemiology, Child, Czech Republic:epidemiology, DNA:genetics, Gene Frequency, Humans, Male, Polymorphism, Genetic, Psychiatric Status Rating Scales, Receptors, Dopamine D2:genetics, Reve.   

OBJECTIVES: Attention deficit hyperactivity disorder (ADHD) is a prevalent childhood disorder. Evidence from the family and twin studies suggest that ADHD is familiar and highly heritable. Association studies are frequently used for the searching of markers responsible for genetic basis of ADHD. We investigated TaqI polymorphism of the dopamine receptor D2 (DRD2) in relationship with ADHD. The association between TaqI A polymorphism of DRD2 gene and ADHD has previously been published.

DESIGN: We used the association study to test the relationship between TaqI A polymorphism of DRD2 gene and ADHD on groups of ADHD boys and control boys.

SETTING: For DNA isolation, buccal tissue was used. PCR with restriction analysis of PCR products was used for genotyping.

RESULTS: We found statistically different genotypic and allelic frequencies (p < 0.008, p < 0.002, respectively) of DRD2 polymorphism between two studied groups of boys.

MAIN FINDINGS: According to our results we suppose that polymorphism TaqI A of DRD2 gene is involved in the pathogenesis of childhood ADHD in male subjects. Allele A1 and genotype A1A1 in male subjects is associated with ADHD.

CONCLUSIONS: Our study confirmed the relationship between TaqI A polymorphism of DRD2 gene and ADHD published previously....

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Journal Article 2006; 27(1-2): 231-235 PubMed PMID: 16648777 Citation  Keywords:  Adult, Alcoholism:enzymology, Alleles, Amino Acid Substitution, Catechol O-Methyltransferase:genetics, DNA:genetics, Female, Gene Frequency, Humans, Japan:epidemiology, Male, Middle Aged, Mutation:physiology, Polymorphism, Genetic:genetics, Polymorphism, .   

OBJECTIVES: The catechol-O-methyltransferase (COMT) is an enzyme involved in the metabolism of dopamine, adrenaline and noradrenaline. The Val158Met polymorphism of the COMT gene has been previously associated with a variability of the COMT activity, and alcoholism. The aim of the present association study was to examine the relationship between the Val158Met polymorphism of the COMT gene and dispositions to alcoholism.

METHODS: In our case control study we analyzed DNA samples from 799 subjects in total (279 male alcoholics and 120 female alcoholics, 151 male controls and 249 female controls). The restriction analysis for the detection of the Val158Met polymorphism was used.

RESULTS: We found a relationship between the Val158Met polymorphism of the COMT gene and alcoholism in male subjects. We found the significant difference between male alcoholics and male controls in allele and genotype frequencies (p<0,007; and p<0,04 respectively).

CONCLUSIONS: Our study confirmed the relationship between the COMT polymorphism and alcoholism in the Czech male population....

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Journal Article 2005; 26(6): 699-703 PubMed PMID: 16380677 Citation  Keywords:  Adenoma:diagnosis, Adolescent, Adult, Biomarkers, Tumor:genetics, Carcinoma:diagnosis, Female, Goiter:diagnosis, Humans, Insulin-Like Growth Factor I:genetics, Male, Middle Aged, Polymorphism, Genetic:genetics, Promoter Regions, Genetic:genetics, Risk Ass.   

OBJECTIVES: Due to the recent increase of incidence of thyroid nodules and the known risk of malignant transformation, there is an elevated risk of thyroid cancer in Poland. Several approaches, including molecular, have been proposed to support fine needle aspiration biopsy in the early detection of malignant lesions. Although the IGF-I system in thyroid cancer has been studied, little is known about the gene and its promoter structure changes. Our aim was to assess, whether the analysis of the IGF-I gene promoter region and 5'UTR exon 1 structure may be useful in assessing the risk of thyroid carcinoma.

MATERIAL: Our study included 46 patients that underwent strumectomy due to a presence of thyroid nodules.

METHODS: All patients underwent clinical examination and laboratory investigations to assess their thyroid structure and function. Tissues obtained during the surgery were used for DNA extraction, PCR, SSCP and direct sequencing.

RESULTS: Among 46 patients, 14 had a nucleotide difference in one of the examined regions. In our study we revealed no significant difference between carcinomatous and non-carcinomatous groups of patients in terms of presence of nucleotide change, but Fisher's exact test gave a significant result in terms of the efficacy of detecting follicular adenoma. Moreover, the patients with nucleotide change had thyroid glands significantly smaller in volume.

CONCLUSIONS: We conclude that the molecular analysis of the IGF-I gene promoter is thought to be of a functional significance, but probably could not be considered useful in the assessment of risk of thyroid cancer in thyroid nodules....

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Journal Article 2005; 26(6): 789-794 PubMed PMID: 16380674 Citation  Keywords:  Adult, Case-Control Studies, Female, Genetic Predisposition to Disease:epidemiology, Genetics, Population, Humans, Integrin alpha2:genetics, Integrin beta3:genetics, Labor, Obstetric:blood, Polymorphism, Genetic, Pregnancy, Pregnancy Complications, Hemato.   

OBJECTIVE: The aim of the study was to evaluate the prevalence of the GP Ia and GP IIIa polymorphisms in the group of women in labor, and to assess the risk of thrombosis associated with their occurrence.

DESIGN AND SETTINGS: 245 women in labor hospitalized between 1.01.2001 and 31.12.2003 r. were enrolled in the study. Patients were qualified for the study if detailed physical exam and past medical history excluded existence of known risk factors predisposing to thrombosis. Study group was composed of 72 women in childbirth, which at some point during current pregnancy or in early labor were diagnosed with thrombosis, and control group included 173 women in labor randomly picked from the group of patients with uncomplicated pregnancies. Polymorphic regions of platelets glycoprotein were detected using genotyping methods based on polymerase chain reactions (PCR).

RESULTS: 1.72% of patients were found to have thrombosis. The thrombosis was located in the venous system in 97.2% of cases. Arteries were affected in two patients (2.7%). Prevalence of individual platelets glycoprotein mutations did not differ between controls and study group. In both groups platelets glycoprotein polymorphisms moderately pro-thrombotic A1/A2 and C/T dominated, and the least numerous were strongly pro-thrombotic A2/A2 and T/T.

CONCLUSIONS: Our results did not show the causative relationship between the existence of platelets GP IIIa/GP Ia mutations and venous system thrombosis in the women in labor. Probably presence of pro-thrombotic mutations of platelets glycoprotein in this group of patients does not represent the increased risk of thrombosis....

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Journal Article 2005; 26(4): 393-396 PubMed PMID: 16136003 Citation  Keywords:  Adult, Aged, Case-Control Studies, Female, Haplotypes, Humans, Hypertrophy, Left Ventricular:genetics, Linkage Disequilibrium, Logistic Models, Male, Middle Aged, Peptidyl-Dipeptidase A:genetics, Polymorphism, Genetic, Retrospective Studies,.   

: The angiotensin converting enzyme gene (ACE) is a candidate gene for an individual's genetic susceptibility to left ventricular hypertrophy (LVH). LVH has long been thought to be an end point of essential hypertension (EH), rather than a separate entity, though it is influenced by a unique set of hormonal, vascular and genetic factors. In this study, we attempted to determine whether two representative polymorphisms of the ACE gene, ACE I/D and 2350 G>A, known to be associated with EH and to influence plasma ACE levels most significantly, could implicate ACE as a quantitative trait locus (QTL) for LVH. We carried out a retrospective, case-control study of the two ACE polymorphisms amongst 180 nationals (50 LVH patients and 130 controls) from the United Arab Emirates--an ethnic group characterized by no alcohol intake and no cigarette smoking--for correlations with LVH. Clinical diagnosis of LVH was based on echocardiographic and ECG criteria. ACE I/D and 2350 G>A genotypes were determined by PCR and restriction digestion. Univariate and multivariate logistic regression analyses revealed an association between ACE polymorphisms and LVH. Haplotype analysis further supported this finding. ACE I/D and ACE 2350 G>A polymorphisms are in strong linkage disequilibrium and are associated with LVH, suggesting that ACE is likely to be a QTL for LVH....

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Journal Article 2003; 24(5): 325-328 PubMed PMID: 14647005 Citation  Keywords:  Aldosterone:urine, Blood Pressure:genetics, Genetic Markers, Humans, Hypertension, Renal:genetics, Insulin:genetics, Middle Aged, Minisatellite Repeats, Phenotype, Pilot Projects, Polymorphism, Restriction Fragment Length, Potassium:urine, Quantitative Tr.   

BACKGROUND: Blood pressure regulation is a complex process influenced by numerous environmental and genetic factors. Consequently, there's no cookie-cutter approach for the elucidation of of the genetic mechanism involved. One of the goals of molecular geneticists in the field of hypertension is to unravel the genetic architecture of blood pressure regulation.

METHODS: With the aim of identifying quantitative trait loci participating in the control of blood pressure, we carried out a pilot study on a sample population of middle-aged, U.S. Caucasians (44 subjects). The design of the study was to search for associations between clinical variables of blood pressure regulation pertaining to the renin-angiotensin-aldosterone system (systolic and diastolic blood pressures, urinary excretion of sodium, potassium and aldosterone, plasma renin activity) and a genetic marker at a candidate gene locus - the human insulin gene (INS) RESULTS: We observed significant associations between a variable number of tandem repeats (VNTR) marker (visualized as a biallelic, class I/class III marker system) localized at the 5' end of the human INS gene, and plasma renin activity and urinary sodium, potassium and aldosterone.

CONCLUSION: Our results indicate that between 6 and 10 QTLs with comparable effects could be involved in blood pressure regulation via the rennin angiotensin system....

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