Association between the Trp64Arg polymorphism of the ADRB3 gene and overactive bladder.

Background: The β -adrenergic receptor (ADRB3) is very important in the regulation of the human detrusor muscle function. The well-known tryptophan64arginine polymorphism of the ADRB3 gene alters the response of the receptor to various stimuli, including adrenalin and noradrenalin, and may increase the susceptibility to develop overactive bladder (OAB). Therefore, this study was performed to determine whether ADRB3 Trp64Arg polymorphism is associated with the pathophysiology of OAB syndrome.

The Possible Interactions and Therapeutic Roles of Lithium Chloride and Midkine on Cancer Treatment.

Midkine (MK) is a heparin-binding anti-apoptotic growth factor or cytokine also known as neurite growth-promoting factor 2 (NEGF2). It is developmentally an important retinoic acid-responsive gene product strongly induced during the mid-gestation stage. Midkine promotes different cellular events such as cell growth, differentiation, survival, gene expression, and drug resistence.

Inhibition of midkine by metformin can contribute to its anticancer effects in malignancies: A proposal mechanism of action of metformin in context of endometrial cancer prevention and therapy.

Metformin, a drug widely used in the treatment of type II diabetes mellitus (T2DM), has been the focus of interest as a potential therapeutic agent for certain types of malignancies, including gynaecological cancers [i.e. endometrial cancer (EC)].

Dual inhibition of P-glycoprotein and midkine may increase therapeutic effects of anticancer drugs.

Multidrug resistance (MDR) to chemotherapy may significantly affect the outcome of cancer treatment. ATP-dependent drug efflux pumps, including P-glycoprotein (P-gp), contribute to the resistance of various chemotherapeutic agents. Overexpression of P-gp in tumor cells induces chemoresistance via pumping the anticancer drugs out of the cells.

Childhood obesity and the role of dopamine D2 receptor and cannabinoid receptor-1 gene polymorphisms.

Aims: The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity.

Methods: A hundred obese children and 100 healthy controls were analyzed for DRD2 Taq1A and Taq1B and CNR1 1359G/A polymorphisms.

Association of angiotensin converting enzyme gene insertion/deletion polymorphism with lung cancer in Turkey.

Angiotensin-converting enzyme (ACE) plays an important role in the physiological control of blood pressure and inflammation. We investigated an insertion/deletion (I/D) polymorphism of the gene for ACE in relation to cardiovascular, cerebrovascular, neurodegenerative, and inflammatory diseases. The purpose of the present study was to investigate a possible association between lung cancer and insertion/deletion polymorphism of the ACE gene.

Association of insertion/deletion polymorphism of the angiotensin-converting enzyme gene with angio-oedema accompanying chronic urticaria but not chronic urticaria without angio-oedema or the autologous serum skin test response.

Background: Chronic urticaria is defined as the daily or almost daily occurrence of weals for more than 6 weeks. The underlying pathophysiology is reported to be mast cell activation, with release of mast cell mediators, predominantly histamine. Substance P is a neuropeptide and has the capacity to provoke histamine release from skin mast cells.

Neonatal jaundice and bilirubin UDP-glucuronosyl transferase 1A1 gene polymorphism in Turkish patients.

Bilirubin uridine diphosphate-glucuronosyltransferase (B-UGT) is the rate-limiting enzyme for the conjugation of bilirubin with glucuronic acid in its excretion process into the bile. Variations in B-UGT gene (UGT-1A1) have been related to disorders characterised by hyperbilirubinaemia. The aim of this study was to investigate whether the number of thymine-adenine repeats in the promoter region of UGT-1A1 was related to non-physiologic hyperbilirubinemia of unexplained aetiology in Turkish newborns.

Human arylamine N-acetyltransferase 2 polymorphism and susceptibility to allergic contact dermatitis.

Background: N-acetyltransferase 2 (NAT2) polymorphism may be involved in the pathogenesis of allergic contact dermatitis.

Objective: The present study was designed to evaluate whether acetylation polymorphism plays a role in the susceptibility to p-Phenylenediamine (PPD) sensitization.

Methods: The frequencies of seven NAT2 point mutations, namely G191A, C282T, T341C, C481T, G590A, A803G, and G857A, and genotypes were determined by PCR/RFLP in a total of 70 patients with allergic contact dermatitis to PPD and 100 control subjects with no history of allergy, atopy, lung disease, diabetes mellitus and cancer.

Association of the ABCB1 3435C>T polymorphism with antiemetic efficacy of 5-hydroxytryptamine type 3 antagonists.

Background: Resistance to antiemetic treatment with 5-hydroxytryptamine type 3 (5-HT(3)) receptor antagonists is still a major problem resulting in patient discomfort and poor compliance to chemotherapy. We hypothesized that clinical resistance to 5-HT(3) antagonists is associated with the single-nucleotide polymorphism (3435C>T) in the gene that codes for the drug efflux transporter adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1).

Methods: Patients with cancer (N = 216) treated with chemotherapeutic regimens composed of highly or moderately emetogenic agents were examined for their antiemetic responses to tropisetron, ondansetron, or granisetron.

Association of insertion/deletion polymorphism of the angiotensin-converting enzyme gene with psoriasis.

Background: Genetic factors are likely to be of fundamental importance in the pathogenesis of psoriasis. There are reports concerning the induction or/and exacerbation of psoriasis by angiotensin-converting enzyme (ACE) inhibitors, which have been attributed to the ACE inhibitor-induced augmentation of kinin levels in skin. However, to the best of our knowledge there has been no molecular genetic study investigating whether ACE insertion/deletion (I/D) polymorphism may contribute to the genetic background in psoriasis.

Protective role of glutathione S-transferase P1 (GSTP1) Val105Val genotype in patients with bronchial asthma.

Background: Glutathione S-transferase P1 (GSTP1), the abundant isoform of glutathione S-transferases (GSTs) in lung epithelium, plays an important role in cellular protection against oxidative stress and toxic foreign chemicals. It has been suggested that polymorphisms in the GSTP1 gene are associated with asthma and related phenotypes. As significant interindividual and interethnic differences exist in the distribution of xenobiotic-metabolizing enzymes, we have studied the GSTP1 Ile105Val polymorphism in patients with asthma in a Turkish sample.

Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma.

Objective: It has been shown that arginine to glycine (Arg16Gly), glutamine to glutamic acid (Gln27Glu) and threonine to isoleucine (Thr164Ile) exchanges in codons 16, 27 and 164, respectively, of the beta 2-adrenergic receptor (B2AR) gene significantly alter receptor function. As B2ARs are located on the afferent blood vessels supplying the ciliary body and trabecular meshwork cells, which control aqueous humour dynamics, polymorphisms of B2AR may be involved in the pathophysiology of certain eye diseases, such as glaucoma. Therefore, the aim of the present study was to investigate the distribution of B2AR polymorphisms in patients with primary congenital and primary open angle glaucoma.

Association between the N-acetylation genetic polymorphism and bronchial asthma.

Aims: Since polymorphic N-acetyltransferase 2 (NAT2) has been suggested as a susceptibility factor for atopic diseases, the study was undertaken to investigate whether an association exists between acetylation polymorphism and asthma patients with atopy.

Methods: The frequencies of NAT2 alleles and genotypes were determined by PCR/RFLP in a total of 210 asthma patients (extrinsic (n = 108) and intrinsic (n = 102) asthmatics) and 240 control subjects. Presence of the NAT2*4 (wild-type) allele defined a NAT2 genotype as rapid and combinations of mutant alleles NAT2*5 A, *5B, *5C, *6 A, and *7B as slow.

Diagnostic value of CRP and Lp(a) in coronary heart disease.

Objectives: Increased lipoprotein (a) [Lp(a)] concentration was reported to be an independent risk factor for coronary heart disease (CHD). Recent epidemiological studies affirmed the value of C-reactive protein (CRP) as the strongest, univariate predictor of the cardiovascular events. We decided to establish cut-off levels providing maximum diagnostic efficiency for CHD.

Association of the Gln27Glu polymorphism of the beta-2-adrenergic receptor with preterm labor.

Objectives: To investigate a potential association between the beta-2-adrenergic receptor (B2AR) polymorphisms occurring at amino acid positions 16 (Arg16Gly) and 27 (Gln27Glu) and preterm labor.

Methods: Eighty patients with preterm labor and 76 control subjects were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Results: A significant association was found between Gln27Glu substitution and preterm labor (P=0.

The impact of acute dynamic exercise on intraocular pressure: role of the beta 2-adrenergic receptor polymorphism.

Effects of mutations in the beta 2-adrenergic receptor (beta 2AR) gene on intraocular pressure (IOP), in response to acute dynamic exercise, were investigated in 19 healthy males (age 22.6 +/- 2.8 years).

The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels.

Phenytoin, an anticonvulsant, exhibits nonlinear pharmacokinetics with large interindividual differences. Because of its small therapeutic range with the risk of therapeutic failure or adverse drug effects in susceptible persons, therapeutic drug monitoring is frequently applied. The interindividual differences in dose response can partially be explained by known genetic polymorphisms in the metabolic enzyme CYP2C9 but a large deal of individual variability remains still unexplained.

Cytochrome P4502C9 genotype in Southeast Anatolia and possible relation with some serum tumour markers and cytokines.

Substrates for CYP2C9 include fluoxetine, phenytoin, warfarin, losartam and numerous nonsteroidal anti-inflammatory drugs. Polymorphisms in the coding region of the CYP2C9 gene produce variants at amino-acid residues 144 Arg/Cys and 359 Ile/Leu of the CYP2C9 protein. Individuals homozygous for Leu359 have markedly diminished metabolic capacities for most CYP2C9 substrates, the frequency of this allele is, however, rather low.

Citalopram-induced photopigmentation.

Citalopram is one of the newer and most potent selective serotonin re-uptake inhibitor (SSRI) drugs. It has a well-established antidepressive action with a favorable adverse event profile. We present a fifty-year-old woman with diffuse photopigmentation who had been diagnosed as suffering from depression.

N-acetyltransferase polymorphism in patients with Behçet's disease.

Objectives: The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease.

Methods: Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques.

The human paraoxonase Gln-Argl92 (Q/R) polymorphism in turkish patients with coronary artery disease.

It has been suggested that a Q/R (Glnl92Arg) polymorphism of paraoxonase (PON) might be associated with the predisposition to coronary artery disease (CAD). Therefore, we studied the human paraoxonase gene (PON1) polymorphism in Turkish patients with CAD by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). This polymorphism was determined in 96 CAD patients and in 105 control subjects.