Introduction: Gene polymorphisms have a broad range of analysis, but are of particular use in molecular medicine due to their potential in revealing the genetic tendency in diseases such as cancer, heart attack etc. These studies basically depend on mutations that can be detected by proper techniques. The genes coding the insulin receptor substrate (IRS) proteins are among the most widely analysed polymorphisms in various cancer types, in which a G1057D mutation is seen.
View Article and Find Full Text PDFThis study evaluated for the first time the relationship between interleukin-18 (IL-18) C607A genotypes and endometriosis in 135 women with endometriosis and 84 controls. In the study population, IL-18 -607∗A homozygote and A allele were positively correlated with the risk of developing endometriosis or the stage of endometriosis.
View Article and Find Full Text PDFObjective: The G1057D polymorphism in the insulin receptor substrate-2 (IRS-2) gene has been reported to be associated with insulin resistance, obesity and type 2 diabetes. However little is known about its possible association with cancer. To investigate this association, we determined the distribution of its genotypes and frequency of alleles in endometrial cancer patients.
View Article and Find Full Text PDFObjective: To investigate whether the insulin receptor substrate (IRS)-2 G1057D polymorphism is associated with the risk of endometriosis, and to evaluate potential correlation of IRS2 gene polymorphism with the stages of endometriosis.
Design: Case-control study.
Setting: Gynecology clinics in university hospital.
Int J Gynecol Cancer
October 2009
The aim of the study was to evaluate the role of N-acetyltransferase 2 (NAT2) gene polymorphism in the development of cervical cancer by comparing patients having invasive cervical squamous cell carcinoma (SCC) with healthy control subjects. The study group consisted of 42 women with invasive cervical SCC and 50 control subjects. All of the patients were primarily treated with surgical intervention.
View Article and Find Full Text PDFThere is an ongoing dilemma about the pathogenesis of nasal polyp (NP). The etiology of NP is multifactorial. Reactive oxygen species and oxidative stress are also suggested to be among the possible factors in NP development.
View Article and Find Full Text PDFAtaxia-telangiectasia (A-T) is an autosomal recessive condition presented by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiencies and a predisposition to malignancy. We report on a 13 years old male patient with the diagnosis of A-T associated with uncommon clinical features; optic disc drusen and vitiligo. To our knowledge, this is the first report of A-T associated with these findings.
View Article and Find Full Text PDFCell Biochem Funct
October 2008
The aim of this study was to investigate associations between genetic variability in specific Glutathione S-transferases (GST) genes (GSTM1, GSTT1 and GSTP1) and susceptibility to breast cancer. Genotypes of blood specimen DNA were determined for 65 women with incident cases of breast cancer and 108 control subjects. Associations between specific genotypes and the development of breast cancer were examined by the use of logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs).
View Article and Find Full Text PDFGlutathione S-transferases (GSTs) are enzymes involved in the metabolism of many disease-causing electrophilic substrates and protect the cells against oxidative stress. In the present study, we investigated the GSTM1, GSTT1 and GSTP1 gene polymorphisms in diabetic patients and healthy individuals and searched whether polymorphisms in GST genes are associated with diabetes mellitus (DM) in the Turkish population. The study population consisted of 98 unrelated healthy individuals and 98 patients with DM.
View Article and Find Full Text PDFThere are still uncertainties as to the mechanism of many pathological conditions, among them allergic diseases. It has been suggest that acetylation rate may be a factor that influences the development of allergic diseases. The aim of the present study was to investigate further whether the genetic polymorphism of the NAT2 plays a role in susceptibility to bronchial asthma disease.
View Article and Find Full Text PDF5-Nitroimidazoles are a group of antiprotozoal and antibacterial agents. Thanks to their antimicrobial activity, these chemotherapeutic agents inhibit the growth of both anaerobic bacteria and certain anaerobic protozoa. One of the useful drugs used in the treatment of infections caused by Trichomonas vaginalis, Entamoeba histolytica, and Giardia lamblia is metronidazole (MTZ).
View Article and Find Full Text PDFCell Biochem Funct
August 2007
The arylamine N-acetyltransferases (NATs) are a unique family of enzymes that catalyse the transfer of an acetyl group from acetyl-CoA to the terminal nitrogen of hydrazine and arylamine drugs and carcinogens. Human arylamine NATs are known to exist as two isoenzymes, NAT1 and NAT2. The objective of this study was to identify whether the genetic polymorphism of NAT2 plays a role in susceptibility to Diabetes Mellitus (DM).
View Article and Find Full Text PDFFree radicals and oxidative damage play roles in aging and age-related ocular diseases such as cataracts, so defensive mechanisms become important factors for protection. Because N-acetylation is involved in a wide variety of detoxification processes, this study was conducted to examine the relationship between the acetylator phenotypes and genotypes in a group of patients with age-related cataract. Sixty-one cases of age-related cataract and 104 controls were included in this study.
View Article and Find Full Text PDFObjective: The exact mechanism of the increased cardiovascular morbidity and mortality in type-2 diabetes is still undefined. The aim of our study was to assess the impact of apolipoprotein E (apo E) polymorphism and other factors on atherosclerotic vascular disease in type-2 diabetic patients. We also examined the association between apo E polymorphism and lipid profile in diabetic patients.
View Article and Find Full Text PDFPurpose: To evaluate the distribution of GSTM1, GSTP1, and GSTT1 gene polymorphisms in exfoliation syndrome (XFS) and the possible associations between the presence of exfoliation syndrome and glutathione S-transferase (GST) gene polymorphisms.
Methods: Using a real-time polymerase chain reaction, GSTM1, GSTP1, and GSTT1 gene polymorphisms were detected in 60 patients with exfoliation syndrome, among which 71.7% had exfoliative glaucoma (43 patients), 16.
Apolipoprotein E (apo E) is directly involved in the amyloid deposition and fibril formation and is present in many cerebral and systemic amyloidoses immunologically. It is encoded by a polymorphic gene and it has three common alleles-epsilon2, epsilon3, and epsilon4. Exfoliation syndrome (XFS) is characterized by the deposition throughout the body of focal fibrillogranular aggregates in which there have been some reports of amyloid or amyloid-like features.
View Article and Find Full Text PDFThe glutathione S-transferase (GST) supergene family is an important part of cellular enzyme defense against endogenous and exogenous chemicals, many of which have carcinogenic potential. The present investigation was conducted to detect a possible association between polymorphisms at the GSTM1, GSTT1, and GSTP1 genes and the interaction with cigarette smoking and colorectal cancer incidence. We examined 181 patients with colorectal cancer and 204 controls.
View Article and Find Full Text PDFHypothesis: Glutathione and glutathione-related antioxidant enzymes are involved in the metabolism and detoxification of cytotoxic and carcinogenic compounds as well as reactive oxygen species. Reactive oxygen species generation occurs in prolonged relative hypoperfusion conditions such as in aging. The etiology of presbycusis is much less certain; however, a complex genetic cause is most likely.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
November 2005
Objective: To investigate the possible harmful cytogenetic effects associated with chronic tonsillitis by analyzing the micronucleus frequency and other nuclear abnormalities in exfoliated buccal epithelial cells.
Materials And Methods: The study consisted of 20 children with chronic tonsillitis, and 20 control subjects with similar age and sex. The ages ranged between 5 and 12 years old (mean age: 7.
Graefes Arch Clin Exp Ophthalmol
April 2005
Purpose: To find out whether the polymorphism at GSTM1, GSTT1 and GSTP1 loci is associated with increased susceptibility to glaucoma.
Methods: We genotyped 153 primary open angle patients and 159 healthy controls. Genomic DNA from peripheral blood was examined using polymerase chain reaction and defined for the genetic polymorphisms of glutathione S-transferase.
The acetylation polymorphism is a common inherited variation in human drug and carcinogen metabolism. Because N- acetyltransferase (NAT2) is important for the detoxification and/or bioactivation of drugs and carcinogens, polymorphisms of this gene have important implications in therapeutics of and susceptibility to cancer. In this study, NAT2 genotype (NAT2*5A (C(481)T), NAT2*6A (G(590)A), NAT2*7A/B (G(857)A)) and NAT2*14A (G(191)A) and phenotype were determined in 125 patients with colorectal carcinoma and 82 healthy control in Mersin, a city located in the southern region of Turkey.
View Article and Find Full Text PDFObjectives: Asthma is a complex multifactorial disease with an obvious genetic predisposition, immunological aberration, and involvement of noxious environmental factors. Polymorphisms of the glutathione-S-transferase (GST) genes are known risk factors for some environmentally-related diseases. In the present study, the hypothesis that polymorphisms in the GSTT1, GSTM1 and GSTP1 genes are associated with atopic and nonatopic asthma was examined.
View Article and Find Full Text PDFGlutathione S-transferases (GSTs) belong to a superfamily of detoxification enzymes that provide critical defences against a large variety of chemical carcinogens and environmental toxicants. GSTs are present in most epithelial tissues of the human gastrointestinal tract. We investigated associations between genetic variability in specific GST genes (GSTM1, GSTT1 and GSTP1), the interaction with cigarette smoking and susceptibility to gastric cancer.
View Article and Find Full Text PDFPurpose: To investigate the influence of the glutathione S-transferase (GST) M1, T1, and P1 genotypes on the laryngeal squamous cell carcinoma risk.
Material And Methods: The study group consisted of 42 white patients with laryngeal squamous cell carcinoma (39 of them were male, mean age: 53, range: 37-67 and 3 of them were female, mean age: 47, range: 32-55) and 89 control subjects (nonsmokers = 47, smokers = 42) (58 male and 31 female, mean age: 51, range: 30-72). DNA samples were isolated from blood samples using high pure polymerase chain reaction (PCR) Template Preparation Kit.