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
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
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 p53 codon 72 polymorphism in 38 patients with endometriosis whose diagnosis was confirmed using videolaparoscopy. Half of the women were infertile. There were no significant differences in the genotype (P = 0.0927) or allele frequencies (P = 0.1430) for p53 Arg72Pro polymorphism between the two groups. We found a significant association between the heterozygous and homozygous proline genotypes and intense pain in the patients. Sixty-four percent of the patients were homozygous or heterozygous for proline in patients with degree III or IV endometriosis, but there was no significant difference compared to homozygous arginine genotype (P = 0.6115). We found that the proline allele is associated with substantial complaints (infertility associated with pain), when compared to the homozygous arginine genotype; we also found that the proline allele was more frequent in endometriosis patients.
