Biomarcadores de suscetibilidade à endometriose

Nakata, Liliane Cristina; Goloni-Bertollo, Eny Maria; Santos, Izaura dos; Oliani, António Hélio; Vaz, Denise Cristina Mós; Oliveira, Gustavo Henrique de Medeiros; Pavarino, Érika Cristina

doi:10.1590/s0100-72032004000400006

Cited by 9 publications

(11 citation statements)

References 20 publications

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“…Studies revealed a significant decline in human semen quality and quantity over the past decades, and the increasing occurrence of disorders of the male reproductive tract is yet unknown. Environmental factors have been suggested to be implicated in the conditions of poor sperm function and infertility (Nakata et al, 2004;Rubes et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

“…They include naturally occurring compounds, drugs, environmental agents, and carcinogens. Adverse effects of xenobiotics are exerted via covalent interactions between intermediate metabolites and genetic components or proteins and their related metabolites (Nakata et al, 2004;Rubes et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

“…Genes encoding the GST Mu-1 and Theta-1 (GSTM1 and GSTT1, respectively) isoforms are polymorphic (Chen et al, 2002;Nakata et al, 2004). Homozygotes for the mutated inactive alleles of each gene are devoid of any specific enzymatic activity of GSTM1 or T1 (null genotypes) (Schuppe et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

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Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility

Finotti

Silva²,

Bordin³

et al. 2009

Genet. Mol. Res.

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ABSTRACT. Male infertility is a heterogeneous disorder, with various genetic and environmental factors that contribute to the impairment of spermatogenesis. Genetic causes are responsible for 60% of cases of idiopathic infertility. Polymorphisms of genes that encode detoxifying enzymes of phase II drug metabolism can modify their expression or function, affecting the biotransformation of toxic compounds to which the male reproductive system is exposed. GSTM1 and GSTT1 encode enzymes that are essential in the process of detoxification of endogenous and exogenous xenobiotics, facilitating their excretion. We examined GSTM1 and GSTT1 polymorphism in 233 men with idiopathic infertility seen at the Human Reproduction Service of the Federal University of Goiás from [2004][2005][2006]. Genotype GSTM1/T1 (null) was found in 30/105 normal individuals and in 64/128 abnormal individuals, indicating a significant association with idiopathic male infertility. The sperm alteration associated with greater GSTM1/T1 (null) frequency was decreased sperm count (oligozoospermy), which was more frequent in patients with GSTM1 (78.9%) as well as in those who had GSTT1 (73.7%), although the difference was not significant. Individuals polymorphic for genes GSTM1 and GSTT1 are susceptible to reduction in sperm quality and infertility, possibly because oligozoo-

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility

Finotti

Silva²,

Bordin³

et al. 2009

Genet. Mol. Res.

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“…Results from this study revealed an association between endometriosis and the m1 allele; two patients with endometriosis were demonstrated to have the homozygous mutant genotype. Nakata et al (2004) analyzed 25 patients with endometriosis and 25 without the disease (control group). The allele frequencies obtained from the two groups indicated no association between the polymorphic CYP1A1m1 allele and endometriosis.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

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ABSTRACT. 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.

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“…One of the single nucleotide polymorphisms (SNPs) of the CYP1A1 gene most widely studied is the MspI restriction site (CYP1A1m1) in the 3'-non-coding region, a T→C transition that promotes an increase in the expression of the gene (Nakata et al, 2004). The high activity of this gene can be deleterious and contribute to the susceptibility to some diseases, including endometriosis (Nakata et al, 2004), cancers associated with tobacco (Cha et al, 2007), cardiovascular diseases, type 2 diabetes mellitus (Wang et al, 2002), and leukemia (Vineis and Perera, 2007).…”

Section: Introductionmentioning

confidence: 99%

Lack of association of CYP1A1-MspI SNP and GSTM1 null genotypes with cancer in a Brazilian family with unusually high cancer incidence

Moraes

Borges²,

Sousa³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Research has shown that genetic polymorphisms in biotransformation enzymes, such as CYP1A1 and GSTM1, are related to a greater or lesser susceptibility to various cancers. We made an analysis of CYP1A1m1 SNP and GSTM1 null genotypes in a family group (71 members) related by consanguinity who had an unusually high incidence of cancer and a high frequency of smokers. There were no significant differences in genotype frequencies in this family when compared to data for Brazilian populations. Possibly, the high incidence of cancer in this sample is associated with smoking and/or other factors not detected in this survey.

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Biomarcadores de suscetibilidade à endometriose

Cited by 9 publications

References 20 publications

Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility

Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility

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

Lack of association of CYP1A1-MspI SNP and GSTM1 null genotypes with cancer in a Brazilian family with unusually high cancer incidence

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