RESUMO
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.
Assuntos
Citocromo P-450 CYP1A1/genética , Desoxirribonuclease HpaII/química , Endometriose/genética , Infertilidade Feminina/genética , Polimorfismo de Fragmento de Restrição , Adulto , Alelos , Estudos de Casos e Controles , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/patologia , Feminino , Expressão Gênica , Frequência do Gene , Genótipo , Humanos , Infertilidade Feminina/complicações , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/patologia , Leucócitos Mononucleares/metabolismo , Leucócitos Mononucleares/patologia , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
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.
Assuntos
Citocromo P-450 CYP1A1/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Glaucoma/genética , Brasil , Genótipo , Glaucoma/patologia , Humanos , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
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.
Assuntos
Endometriose/genética , Glutationa Transferase/genética , Polimorfismo de Nucleotídeo Único , Adulto , Brasil , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Humanos , Proteína Supressora de Tumor p53/genéticaRESUMO
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.
Assuntos
Glaucoma de Ângulo Aberto/enzimologia , Glaucoma de Ângulo Aberto/genética , Glutationa Transferase/genética , Polimorfismo Genético , Consumo de Bebidas Alcoólicas/genética , Estudos de Casos e Controles , Humanos , Fumar/genéticaRESUMO
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.
Assuntos
Endometriose/genética , Receptores de Progesterona/genética , Adulto , Elementos Alu/genética , Brasil , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Pessoa de Meia-Idade , Polimorfismo Genético , Receptores de Progesterona/sangue , Fatores de RiscoRESUMO
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).
