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).

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).

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

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 2004-2006. 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 spermic individuals have been affected by GST polymorphism.

Analysis of p53 codon 72 gene polymorphism in Brazilian patients with endometriosis.

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.