Atherosclerosis: analysis of the eNOS (T786C) gene polymorphism.

The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chi-square test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.

Analysis of p53 gene polymorphism (codon 72) in symptomatic patients with atherosclerosis.

Atherosclerosis is a multifactorial pathological disease that alters the morphology and function of arterial walls. The atheroma growth leads to vessel hardening and lumen narrowing, limiting the blood flow. The atheroma plaque can eventually break, expose highly thrombogenic material and lead to platelet activation and subsequent formation of a thrombus that may block blood flow in loco, or even leading to obstruction of other vessels with a smaller diameter. This process is one of the main determinants of the clinical manifestations of atherosclerosis, such as coronary artery disease, ischemic stroke, and peripheral arterial disease. Although the inflammatory theory about atherosclerosis is the most renowned one, observations point to common biological characteristics between cancer and atherosclerosis suggesting a possible association between p53 and atherosclerotic diseases. We collected peripheral blood samples from 200 individuals with clinical manifestations of atherosclerotic disease and 100 individuals without manisfestation of the disease to form the control group. DNA was subjected to molecular analysis (PCR) to identify the polymorphism of the p53 gene. We have not found any relationship between the polymorphism of the p53 gene and atherosclerosis in the population studied (P = 0.36). There was no relationship between atherosclerosis, polymorphism of p53 and the variables accounted: smoking habit (P = 0.72, 0.51 and 0.62 for smokers, non-smokers and former smokers respectively), alcohol consumption (P = 0.17 for individuals with drinking habits and 0.38 for those who do not consume alcohol beverage), systemic arterial hypertension (P = 0.60), diabetes mellitus (P = 0.34), and dyslipidemia (P = 0.89). Our population has a high rate of miscegenation and heterozygotes, and according to studies the arginine variant is more related to plaque formation because it induces apoptosis more frequently when compared to the proline variant. According to our results, there is no association between the polymorphism of the p53 gene, atherosclerosis and its risk factors in the population studied.

Molecular analysis of the GSTT1 gene polymorphism in patients with clinical manifestation of atherosclerosis.

Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of amino acids, lipids, and carbohydrates. Glutathione S-transferases (GST) are enzymes that catalyze the polymorphic detoxification of metabolites produced by oxidative stress within the cells, which is induced by reactive oxygen species. GSTs are one of the defense mechanisms against oxidative stress damage. Due to genetic, cultural, and environmental factors, the rate of atherosclerosis is higher; however, an early diagnosis is crucial for the prevention and treatment of several complications related to the disease. The present study aimed to analyze the frequency of GSTT1 genotypes regarding the presence or absence of the polymorphism in patients with clinical manifestation of atherosclerosis. We collected 200 samples of peripheral blood of patients with the previous diagnosis of atherosclerosis based on clinical examination and imaging, and 100 samples of peripheral blood to compose the control group of patients without clinical manifestation of atherosclerosis. The polymorphism was assessed by PCR and analyzed on the agarose gel stained with 2.0% ethidium bromide. The frequency of the GSTT1 gene polymorphism was compared using the chi-square test (P < 0.05) and the G-test. In the case group, we detected 85.5% of patients with the GSTT1 genotype present and 14.5% of patients with the null genotype. A significant difference was observed between groups (case vs control) for the presence of the GSTT1 polymorphism. According to the analysis of the variable alcohol consumption, we found that in the case group the presence of the GSTT1 gene was higher in individuals who reported not drinking alcohol. In this study, the presence of the GSTT1 gene polymorphism in male patients with atherosclerosis was 1.5 times higher when compared to female patients. Regarding the variable time of smoking, we found that this genotype was more frequent in smokers for both case and control groups.

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis.

Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia, and smoking are widely known. Currently, genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (an important arterial vasodilator), when presented in polymorphic variation can determine production, malfunction, and predisposition to atherosclerosis. In the present study, we analyzed the G894T polymorphism of the eNOS gene in groups of individuals diagnosed with atherosclerosis and in a control group. We collected 200 blood samples from patients previously diagnosed with atherosclerosis and 100 samples formed the control group. The genotyping analysis for polymorphism of the eNOS gene was determined by PCR. We considered variables such as gender, smoking, smoking history, and alcohol consumption; statistical differences were found in the distribution of case and control groups (P = 0.0378) and in non-smoking patients (P = 0.0263). In the other associations, no statistically significant difference was found. In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other populations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to atherosclerosis. Association of the GG genotype in non-smokers also showed greater susceptibility. Gender, alcohol consumption, smoking, and smoking history did not influence atherosclerosis.

GSTM1 polymorphism in patients with clinical manifestations of atherosclerosis.

Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol levels, sedentary lifestyle, and stress; the non-modifiable factors include diabetes mellitus, family history of hypertension and heart disease, thrombophilia, sex, age, and genetic factors. The association of polymorphisms in GST with coronary artery disease has been studied since the polymorphisms can affect enzyme activity and contribute to the onset of atherosclerosis. We analyzed polymorphisms in GSTM1 in individuals diagnosed with atherosclerosis as well as in healthy individuals (control group). The frequency of the GSTM1 present genotype in the atherosclerosis group was 1.2 times higher than that observed in the control group. We found no sex- or alcohol-consumption-dependent differences between the occurrences of the present and null genotypes. However, the GSTM1 present genotype occurred in 52.6% individuals with atherosclerosis who reported smoking 20 or more cigarettes per day and in 60% individuals who smoked 10 to 20 cigarettes per day (P = 0.0035). In addition, the GSTM1 present genotype was more frequent in individuals who reported being former smokers - 45.5% in individuals with atherosclerosis who smoked for more than 20 years and 50% each for individuals in the control group who smoked for less than 10 years or for 10 to 20 years, respectively (P = 0.0240).

Male idiopathic infertility and the TP53 polymorphism in codon 72.

Many environmental agents affect the development of male germ cells at different stages. Apoptosis is common during normal spermatogenesis; it plays an important role in controlling the number of germ cells and the disposal of defective stem cells to produce functional sperm. The presence of p53 in primary spermatocytes suggests that it plays a role in the prophase of meiosis. p53 is expressed in the testis in both spermatocytes and spermatogonia. This suggests that the p53 gene (TP53) is important for apoptosis regulation during spermatogenesis, and may be associated with male infertility. The main causes of male infertility are genetic, physical, and pathological abnormalities, intense and prolonged exercise, aging, drug use, and long periods of sexual abstinence. Approximately 20% of male infertility is idiopathic. The Trp53 gene is involved in meiosis in male rats and mice suggesting that the p53 plays a critical role in spermatogenesis. We investigated the association between the TP53 polymorphism in codon 72 and idiopathic male infertility in 208 semen samples: 106 showed abnormal semen analysis results and were from infertile men, and 102 were from fertile individuals (the control group). Changes in Trp53 expression are associated with the main phase regulating meiotic progression with a peak in the pachytene stage, and Trp53-deficient mice exhibit degenerative syndrome (giant cells). The genotypic and allelic frequencies were not significantly different among the groups in this study; the results suggest that the TP53 polymorphism in codon 72 is not associated with the pathogenesis of idiopathic male infertility or failure of spermatogenesis.

Analysis of the prevalence of polymorphisms in the glutathione S transferase gene (GST) in cataract patients from Goiânia.

The aim of this study was to determine the prevalence of polymorphisms in the glutathione S-transferase genes GSTM1 and GSTT1 in patients with lens opacity (cataract). Peripheral blood samples were obtained from male and female patients (N = 23) with cataract. The GSTM1 and GSTT1 polymorphic regions were amplified by polymerase chain reaction, and the amplification products were electrophoresed on a 2% agarose gel. The obtained bands were by staining with ethidium bromide. The results were compared by a chi-square test using the BioEstat software (v.5.0). The frequencies of the GSTM1- and GSTT1-null genotypes were higher than those of the GSTM1- and GSTT1-present genotypes. The frequency of GSTT1-null genotypes was approximately 1.7 times higher than that of GSTM1, which was a statistically significant difference (P = 0.0019). Although a consensus remains to be reached on the correlation between genetic polymorphisms in GSTs and cataract susceptibility, the observations from most scientific studies are similar to those reported in this study. Thus, we conclude that the absence of these genes, particularly GSTT1, is correlated with the development of lens opacity.

Association of CYP1A1 (cytochrome P450) MspI polymorphism in women with endometriosis.

Endometriosis is a disease that affects 10 to 15% of the women of reproductive age. It is characterized by the presence of endometrial-like tissues outside of the uterus. Some definitions claim that the functional ectopic tissue is sensitive to the action of hormones. Severity of endometriosis is defined according to a system proposed by the American Society for Reproductive Medicine, which is based on laparoscopic findings. A large number of genetic polymorphisms has been reported for CYP1A1, the gene that is responsible for enzymes involved in stage I detoxification of xenobiotics; this gene is located at 15q22-24, and encodes an isoenzyme that catalyzes the oxidation of polycyclic aromatic hydrocarbons present in phenolic compounds and epoxides. The aim of this study was to analyze the frequency of the MspI polymorphism and its relation to endometriosis. We obtained peripheral blood samples from 52 women with endometriosis (confirmed by laparoscopy) as well as 42 women without endometriosis (control group). In the case group, the women were between 25 and 35 years of age; the age range was between 25 and 57 years old in the control group. Molecular analysis was performed by polymerase chain reaction. We found a significant association (P = 0.039) between the polymorphic allele m1 and endometriosis (32.70%). In conclusion, this study showed that the m1 polymorphism is associated with endometriosis, and that W1/m1 and m1/m1 polymorphisms are more frequently observed in patients with infertility and severe endometriosis.

Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil).

In healthy women, intra- and extracellular controls prevent the attachment and proliferation of ectopic endometrial cells. During endometriosis, abnormalities in these control mechanisms permit the survival of endometrial cells, their subsequent attachment to the peritoneal cavity, and disease progression. These abnormal cells cause invasion of tissues and induce an inflammatory response. Several genetic, immunological, and environmental factors contribute to this complex process. In this study we examined 6 polymorphisms for 6 different genes (p53; estrogen receptor ß; progesterone receptor; GSTM1; GSTT1; CYP1A1). We obtained polymorphic genotype frequencies of all genes for 50 patients and analyzed them using the Fisher exact test or G test. Initially, we analyzed the genes in groups of 2, followed by 3. We found a significant association between polymorphisms in 6 pairs of genes (p53-ERßshowed 5.9-times higher frequency in the experimental group, p53-GSTM1 showed 2.39 times higher, 65.5% patients showed p53-CYP1A1 polymorphism, ERß-PROGINS showed 3.0-times higher frequency, while 31.25% patients showed GSTM1- PROGINS and GSTT1-CYP1A1 polymorphism). Positive results were found in 15 situations when genes were analyzed in groups of 3; the most significant result corresponded to polymorphisms of p53, ERßand GSTM1 seen in 20%; PROGINS, ERßand GSTM1 in 18%; and p53, ERßand PROGINS in 12% patients. The results indicate that the presence of polymorphisms in more than one endometriosis-related gene is associated with onset of disease and progression. Future studies should focus on these genes to understand their inter-relationships and explore the possibility of developing new diagnostic techniques based on molecular markers.

Association between RsaI polymorphism in estrogen receptor ß gene and male infertility.

The estrogen receptor ß (ERß) gene plays an important role in the regulation of fertility in both males and females. The RsaI polymorphism in ERß is associated with male infertility in Caucasian patients. The aim of this study was to investigate the frequency of this polymorphism in the etiology of idiopathic male infertility and its correlation with smoking habits. We analyzed 287 Brazilian men, including 161 infertile and 126 fertile men, to evaluate the association between the RsaI polymorphism and male infertility. The RsaI variant alleles of all patients were determined by allele-specific polymerase chain reaction. Compared with a control group (normozoospermic men), the frequency of the RsaI AG-genotype was four times higher in infertile men (P = 0.01), five times higher in azoospermic men (P = 0.02), and seven times higher in teratozoospermic men (P = 0.001). The frequency of the RsaI AG-genotype was three times higher in infertile smokers (P = 0.038) compared with infertile nonsmokers, and nine times higher in azoospermic smokers (P = 0.035) compared with azoospermic nonsmokers. The RsaI polymorphism in ERß may have modulating effects on human spermatogenesis. There seems to be a consistent association between RsaI polymorphism and smoking habits in infertile men.

Analysis of the GSTM1-null polymorphism in patients with pterygium from Goiânia, Goiás Brazil.

The first reports about pterygium date back to Hippocrates, and this disease still threatens vision health around the world. Pterygium is a formation of fibrous tissue consisting of highly vascularized epithelial and subepithelial tissue that grows excessively and with an abnormal shape on the cornea. Many physical and biological factors are associated with the pathogenesis of pterygium, including heat, dust, and other particles in the atmosphere, and immunological mechanisms, mechanisms involving extracellular matrix reorganization, growth factors, cytokines, apoptosis, and angiogenesis. The aim of this study was to further investigate the association between polymorphisms in GSTM1 and the formation of pterygium. We collected peripheral blood samples from 90 patients diagnosed with pterygium and from 23 subjects with-out the disease in order to perform molecular analysis of the GSTM1 gene. Subjects with one or two copies of the GSTM1 allele had a normal genotype while those without any copies of the allele had a null geno-type. The chi-square test or the Fisher exact test was performed in order to investigate possible associations between the molecular analysis and the risk of pterygium. A significant difference between the frequency of the GSTM1-null genotype in patient and control groups was identified. However, sub-group analysis found that the GSTM1-null genotype was statistically significant in men, but not in women, and in Caucasians, but not in Brown or Black groups. Furthermore, the GSTM1-null geno-type was not related to any of the risk factors analyzed: cases in family, occupational exposure, smoking, hypertension, and diabetes.

Pterygium in patients from Goiânia, Goiás, Brazil.

Pterygium is an inflammatory and degenerative ocular surface disease in which the conjunctiva on the cornea grows to form a fibrous tissue in the shape of a triangle. The disorder may be characterized by cell proliferation, inflammatory processes, fibrosis, angiogenesis, and destruction of the extracellular matrix. The anomaly is considered a degenerative eye disease and is erroneously confused with cataract. It displays similar features to those of tumors, such as local invasion, metaplasia of epithelial cells, presence of oncogenic viruses (human papilloma virus), inactivation of tumor suppressor genes (e.g., p53), and loss of heterozygosity. The treatment of pterygium is based on factors such as the evolution and progression of the disease, risk factors, symptoms, and patient age. Considerations about the best technique for the surgical removal of pterygium remain controversial, and complications and recurrence are very common. The development of new surgical techniques and adjuvant drugs is thus necessary. This study aims to analyze and compare the frequency of the GSTT1 genotypes in relation to pterygium through statistical analyzes in order to build a genotypic profile for the Replicon patients. The genotypic profile of the GSTT1-null polymorphism in Goiânia showed no significant difference when the frequency of the null genotype was compared between the control and experimental groups. The null genotype was more frequent in the population studied. Furthermore, the GSTT1 genotype was not related to the analyzed risk factors for pterygium, namely gender, ethnicity, family history, occupational exposure, smoking, hypertension, and diabetes.

Assessment of the cytotoxic, genotoxic, and antigenotoxic activities of sucupira oil (Pterodon emarginatus).

The present study aimed to assess the cytotoxic, genotoxic, and antigenotoxic activities of sucupira oil (Pterodon emarginatus), which is commonly used as an anti-rheumatic, analgesic, antimicrobial, anticercariae, and anti-inflammatory. We used the mouse bone marrow micronucleus test as an experimental model. The experimental groups, which consisted of 5 animals, was administered sucupira oil (100 mg/kg body weight) intraperitoneally and evaluated 24 h after the treatment. The negative control group was treated with sterile distilled water, and the positive control group received an intraperitoneal dose of 4 mg/kg mitomycin C, a dose that corresponds to 80% of its median lethal dose. Cytotoxicity was determined by the polychromatic to normochromatic erythrocytes ratio (PCE/NCE). Sucupira oil had no significant effects (P > 0.05) on the frequency of micronucleated polychromatic erythrocytes as compared to the negative control group. However, the difference was significant (P < 0.005) as compared to the positive control group. The PCE/NCE (100 mg/kg oil and 4 mg/kg mitomycin) ratio did not differ between the experimental group and the positive control group, but it differed significantly when compared to the negative control group (P < 0.05). Thus, these findings suggested that the P. emarginatus oil showed no cytotoxic, mutagenic, or antimutagenic activities at a dose of 100 mg/kg.

Polymorphisms of GSTM1, GSTT1, and p53 in Goiânia, Goiás.

Genetic polymorphisms are defined as changes within the DNA sequences of genes that have frequencies in the population higher than 1%. The glutathione S-transferases play an important role in the cellular detoxification systems involved in oxidative stress that can lead to accumulation of reactive oxygen species. Epidemiological studies have suggested that individuals with homozygous deletion of glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) are at higher risk of developing several types of neoplasias. The p53 protein is highly expressed in tumors and transformed cells, and the p53 is a classical tumor suppressor gene involved in regulating cell growth and development. In this study, we investigated the prevalence of polymorphisms in the p53, GSTM1, and GSTT1 genes in a population from Goiânia. We evaluated the polymorphisms of these genes in peripheral blood samples. The null or present polymorphism of GSTM1 and GSTT1 genes and Arg/Pro of the p53 gene were analyzed. Our results revealed a higher frequency of the GSTM1-null polymorphism (72.4%) than the GSTM1-present genotype (27.6%). For GSTT1, we observed higher frequency for the null genotype (65.5%) compared to the present genotype (34.5%). Analysis of p53 gene polymorphisms showed a higher frequency for the genotype Arg/Pro (66%) and a lower frequency for the Arg/Arg (23%) and Pro/Pro (11%) genotypes. It is essential to understand polymorphism frequencies in different populations and to evaluate the role of genetic polymorphisms and their effects on health.

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma.

The CYP1A1 gene is related to the generation of secondary metabolites that are capable of inducing DNA damage. The CYP1A1m1 polymorphism has been examined in many studies, and is located in a region near loci that have been linked to glaucoma, including the locus GLC1I. As a result, this polymorphism has been related to several diseases that are influenced by exposure to xenobiotic as well as primary open-angle glaucoma. We compared the prevalence of the CYP1A1m1 polymorphism in 152 Brazilian patients, 100 patients with primary open-angle glaucoma, and 52 normal controls using restriction fragment length polymorphism analysis. The frequency of the homozygous wild-type (w1/w1) CYP1A1 gene among patients with primary open-angle glaucoma (N = 100) was 16%, for genotype w1/m1, the frequency was 77%, and for m1/m1 it was 7%. Among the control group (N = 52), the frequency of the homozygous wild-type (w1/w1) CYP1A1 gene was 54%, the frequency of w1/m1 was 46%, and the frequency of m1/m1 was 0%. The presence of the CYP1A1m1 polymorphism may interfere with xenobiotic metabolism and exacerbate direct or indirect damage to the optic nerve. These CYP1A1m1 polymorphisms may be risk factors for primary open-angle glaucoma.

Association between primary open angle glaucoma and genetic polymorphisms GSTM1/GSTT1 in patients from Goiânia Central-West Region of Brazil.

In this study, we evaluated the genotype profile of GSTM1 and GSTT1 polymorphisms in patient carriers of primary open-angle glaucoma in the population of Goiânia, GO, Brazil. This case-control study included 100 Brazilian patients with glaucoma and 53 patients without glaucoma. Blood samples were genotyped for polymorphisms in GST genes using polymerase chain reaction-based methods. Polymorphism frequencies were compared using the X(2) test and odds ratio (α = 0.05). The GSTM1-present genotype was 40% in the glaucoma group and 71.6% in the control group, while the GSTM1 null genotype was 60 and 28.3% in the same groups, respectively. The GSTT1-present genotype was 52% in the primary open-angle glaucoma group and 66% in the control group; the null genotype was 48% in the case group and 34% in the control group. The GSTM1 null genotype was more frequent in the glaucoma group than in the control group (P = 0.0004; odds ratio = 6.7; 95% confidence interval = 2.7- 20.3). The combined GSTM1 null and GSTT1-present genotypes were more frequent in the primary open-angle glaucoma group compared to the control group (P = 0.02; odds ratio = 3.1; 95% confidence interval = 1.2-7.9).

GSTM1 and GSTT1 polymorphisms in endometriosis in women from Goiás, Brazil.

Endometriosis is a gynecologic pathology with a high prevalence and unknown etiology. Therefore, an increasing number of studies has been undertaken to search for associations between endometriosis and alterations or polymorphisms in candidate genes, including glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1). We analyzed the frequency of present/absent polymorphisms of GSTM1 and GSTT1 in 50 women diagnosed with endometriosis and in a control group of 46 women without complaints related to this pathology. The association of these polymorphisms with p53 gene codon 72 was also evaluated within each group, and a higher frequency of absence of GSTM1 (61%) and GSTT1 (45%) genes in the group of women studied, women with endometriosis and control group was found. The contributions of GSTM1 and GSTT1 polymorphisms to the proliferation of endometriosis were not statistically significant, but the analysis of pathology and the association of GSTM1 and GSTT1 gene polymorphisms with p53 codon 72 revealed statistical significance.

GSTM1 polymorphism in patients with primary open-angle glaucoma.

Primary open-angle glaucoma (POAG) is characterized by loss of retinal ganglion cells, optic nerve damage and irreversible loss of visual field. Glaucoma is the second leading cause of blindness worldwide. It was estimated that in 2010 there were about 60.5 million glaucoma cases worldwide; among these patients, 4.5 million will become bilaterally blind. Glutathione S-transferases (GST) are a group of drug-metabolizing enzymes of phase-II that act in the detoxification of xenobiotics and inactivate end-products formed as secondary metabolites during oxidative stress. Through PCR amplification, we analyzed the GSTM1 gene in DNA samples from 25 patients with POAG and 25 controls; 14 of the patients presented the GSTM1 gene null polymorphism while only eight of the control group had this gene.Although the POAG patients had a higher frequency of GSTM1, the difference was not significant (P = 0.0874); this lack of significance could be due to the small sample size.

Polymorphism of the progesterone receptor gene associated with endometriosis in patients from Goiás, Brazil.

We investigated a possible link between endometriosis and polymorphism of the progesterone receptor gene (PROGINS). The endometriosis group consisted of 54 patients with a diagnosis of endometriosis by laparoscopy, and the control group comprised 44 women without endometriosis. Genotypes for PROGINS polymorphisms (A1/A1, A1/A2 and A2/A2) were determined by polymerase chain reaction and analyzed on a 2% agarose gel stained with ethidium bromide. The frequency of polymorphic genotypes (A1/A2 and A2/A2) was significantly higher in patients with endometriosis (33%) than in the control group (16%). We conclude that there is a significant correlation between PROGINS polymorphism and endometriosis.

RsaI polymorphism of the ERß gene in women with endometriosis.

We examined the frequency of RsaI polymorphism of the ERß gene in 54 patients diagnosed with endometriosis and 46 controls. Peripheral blood was collected from women undergoing laparoscopy with a confirmed diagnosis of endometriosis. Polymorphisms of the ERß gene and p53 were assessed by PCR and analyzed on 2% agarose gel stained with ethidium bromide. The AG polymorphism genotype frequency in patients with endometriosis was 59.3%, with 40.7% GG. In the control group, the frequency of AG was 6.5%, with 93.5% GG. The frequency of heterozygous AG was nine times higher in patients with endometriosis than in the control group (P < 0.0001).