Polymorphism Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2006;28(5):278-284
DOI 10.1590/S0100-72032006000500003
PURPOSE: to analyze race, parity and presence of the progesterone receptor polymorphism, named PROGINS, as factors related to uterine leiomyoma occurrence in Brazilian women. METHODS: we carried out a case-control study, composed of 122 patients with the diagnosis of uterine fibroid and 125 women without the disease. After recording the clinical data, we collected biological material for DNA extraction, polymerase chain reaction and agarose gel electrophoresis in order to identify the presence of PROGINS polymorphism. Statistical analysis was performed using the non-parametric Mann-Whitney test or the chi2 test, depending on the studied variable. The risk for the occurrence of the disease was calculated by the logistic regression model, providing the odds ratio (OR). The adopted significance level was 5% (p<0.05) and the confidence interval was 95% (95% CI). RESULTS: we observed a higher prevalence of "non-white"women - mulatto and black - (50 vs 22.4%) and nulliparas (23.8 vs 11.2%) in the cases, while the progesterone receptor genotype was more often PROGINS positive - heterozygous or mutant homozygous - among the controls (21.6 vs 10.7%). The OR indicated an elevated risk for leiomyoma related to the "non-white"race (OR=3.46; 95% CI: 2.0-6.0) and the nulliparity (OR=3.30; 95% CI: 1.9-5.6), with reduction in the presence of PROGINS-positive genotypes (OR=0.43; 95% CI: 0.2-0.9). CONCLUSIONS: the "non-white"race and nulliparity were considered risk factors for the occurrence of uterine fibroid in the studied population, while PROGINS polymorphism showed to be a protective factor.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2006;28(5):278-284
DOI 10.1590/S0100-72032006000500003
PURPOSE: to analyze race, parity and presence of the progesterone receptor polymorphism, named PROGINS, as factors related to uterine leiomyoma occurrence in Brazilian women. METHODS: we carried out a case-control study, composed of 122 patients with the diagnosis of uterine fibroid and 125 women without the disease. After recording the clinical data, we collected biological material for DNA extraction, polymerase chain reaction and agarose gel electrophoresis in order to identify the presence of PROGINS polymorphism. Statistical analysis was performed using the non-parametric Mann-Whitney test or the chi2 test, depending on the studied variable. The risk for the occurrence of the disease was calculated by the logistic regression model, providing the odds ratio (OR). The adopted significance level was 5% (p<0.05) and the confidence interval was 95% (95% CI). RESULTS: we observed a higher prevalence of "non-white"women - mulatto and black - (50 vs 22.4%) and nulliparas (23.8 vs 11.2%) in the cases, while the progesterone receptor genotype was more often PROGINS positive - heterozygous or mutant homozygous - among the controls (21.6 vs 10.7%). The OR indicated an elevated risk for leiomyoma related to the "non-white"race (OR=3.46; 95% CI: 2.0-6.0) and the nulliparity (OR=3.30; 95% CI: 1.9-5.6), with reduction in the presence of PROGINS-positive genotypes (OR=0.43; 95% CI: 0.2-0.9). CONCLUSIONS: the "non-white"race and nulliparity were considered risk factors for the occurrence of uterine fibroid in the studied population, while PROGINS polymorphism showed to be a protective factor.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2005;27(10):607-612
DOI 10.1590/S0100-72032005001000007
PURPOSE: to test the hypothesis that gene TP53 codon 72 polymorphism is a risk factor for premalignant and malignant cervical lesions associated or not with human papillomavirus (HPV). METHODS: uterine cervical samples were collected for HPV DNA and TP53 codon 72 polymorphism tests from 155 patients who underwent cervical biopsy. Three groups were formed according to histological diagnosis: low-grade squamous intraepithelial lesion (LSIL), high-grade squamous intraepithelial lesion (HSIL) and cervical carcinoma. Subjects without cytological and histological displasic changes were considered controls. To verify the association between the gene TP53 codon 72 polymorphism and the groups, the chi2 test was applied. Confidence interval was considered significant at 95% (alpha=0.05). RESULTS: forty subjects were found to present cervical carcinoma, 18 had HSIL, 24 had LSIL and 73 were grouped as controls. The genotype Arg/Arg p53 was found in 60% of the patients with cancer, in 50.0% of the cases with HSIL, 45.8% with LSIL, and in 45.2% of the controls. No significant differences were identified in the frequencies of p53 genotype between all groups, independently of the presence of HPV (chi2: 3.7; p=0.716). CONCLUSIONS: our data do not support hypothesis that the gene TP53 codon 72 polymorphism is important for the development of pre-malignant and malignant cervical lesions associated or not with HPV.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2005;27(10):607-612
DOI 10.1590/S0100-72032005001000007
PURPOSE: to test the hypothesis that gene TP53 codon 72 polymorphism is a risk factor for premalignant and malignant cervical lesions associated or not with human papillomavirus (HPV). METHODS: uterine cervical samples were collected for HPV DNA and TP53 codon 72 polymorphism tests from 155 patients who underwent cervical biopsy. Three groups were formed according to histological diagnosis: low-grade squamous intraepithelial lesion (LSIL), high-grade squamous intraepithelial lesion (HSIL) and cervical carcinoma. Subjects without cytological and histological displasic changes were considered controls. To verify the association between the gene TP53 codon 72 polymorphism and the groups, the chi2 test was applied. Confidence interval was considered significant at 95% (alpha=0.05). RESULTS: forty subjects were found to present cervical carcinoma, 18 had HSIL, 24 had LSIL and 73 were grouped as controls. The genotype Arg/Arg p53 was found in 60% of the patients with cancer, in 50.0% of the cases with HSIL, 45.8% with LSIL, and in 45.2% of the controls. No significant differences were identified in the frequencies of p53 genotype between all groups, independently of the presence of HPV (chi2: 3.7; p=0.716). CONCLUSIONS: our data do not support hypothesis that the gene TP53 codon 72 polymorphism is important for the development of pre-malignant and malignant cervical lesions associated or not with HPV.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2005;27(8):473-478
DOI 10.1590/S0100-72032005000800007
PURPOSE: to analyze the correlation between PROGINS polymorphism and breast cancer. METHODS: a case-control study was carried out from April to October 2004. The genotypes of 50 women with breast cancer and 49 healthy women were analyzed. The 306-base pair Alu insertion polymorphism in the G intron of progesterone receptor gene was detected by polymerase chain reaction and analyzed on 2% agarose gel stained with ethidium bromide. The control and experimental groups were compared regarding genotypes using the statistical Epi-Info 6.0 program and for frequencies the exact Fisher test or chi2 test were used. p value smaller p than 5% was considered to be significant. RESULTS: in relation to PROGINS we found in the studied population a prevalence of 62 (62.6%) wild homozygous, 35 (35.3%) heterozygous individuals and two (2.1%) cases with the presence of the mutation. Regarding PROGINS polymorphism, significance was not evidenced when cases and controls were compared, as related to homozygosis (62 vs 65.3%), heterozygosis (36 vs 34,6%) or the mutation (2.0 vs 2.1%), with p=0.920 (OR=1.01), 0.891 (OR=1.06), and 0.988 (OR=1.10), respectively. CONCLUSIONS: the results show that single-gene PROGINS polymorphism does not confer a substantial risk of breast cancer to its carriers.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2005;27(8):473-478
DOI 10.1590/S0100-72032005000800007
PURPOSE: to analyze the correlation between PROGINS polymorphism and breast cancer. METHODS: a case-control study was carried out from April to October 2004. The genotypes of 50 women with breast cancer and 49 healthy women were analyzed. The 306-base pair Alu insertion polymorphism in the G intron of progesterone receptor gene was detected by polymerase chain reaction and analyzed on 2% agarose gel stained with ethidium bromide. The control and experimental groups were compared regarding genotypes using the statistical Epi-Info 6.0 program and for frequencies the exact Fisher test or chi2 test were used. p value smaller p than 5% was considered to be significant. RESULTS: in relation to PROGINS we found in the studied population a prevalence of 62 (62.6%) wild homozygous, 35 (35.3%) heterozygous individuals and two (2.1%) cases with the presence of the mutation. Regarding PROGINS polymorphism, significance was not evidenced when cases and controls were compared, as related to homozygosis (62 vs 65.3%), heterozygosis (36 vs 34,6%) or the mutation (2.0 vs 2.1%), with p=0.920 (OR=1.01), 0.891 (OR=1.06), and 0.988 (OR=1.10), respectively. CONCLUSIONS: the results show that single-gene PROGINS polymorphism does not confer a substantial risk of breast cancer to its carriers.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2004;26(8):613-617
DOI 10.1590/S0100-72032004000800004
OBJECTIVE: the aim of the present study was to verify whether there is a correlation between the prevalence of the polymorphism in the progesterone receptor gene named PROGINS and pelvic endometriosis at different stages. METHODS: a case-control study carried out from November 2003 to May 2004. The genotypes of 104 women were analyzed 66 women had had surgically confirmed endometriosis (26 women at stages I-II and 40 at stages III-IV), and 38 were healthy women. The 306-base pair Alu insertion polymorphism in the intron G of the progesterone receptor gene was detected by polymerase chain reaction and analyzed on 2% agarose gel stained with ethidium bromide. ANOVA analysis was performed in order to make comparisons between among the studied groups. RESULTS: the groups of women with endometriosis stages I-II (EndoI group) and stages III-IV (EndoII group) showed statistically significant increased incidence of PROGINS polymorphic allele as compared with the control group: 27% in the EndoI group, 38% in EndoII and 18% in the control group (p < 0.001. In the analyses, a high frequency of the PROGINS insertion was observed in women with endometriosis as compared to healthy women, disregarding the clinical stage of the disease (p = 0.0385). CONCLUSION: there is a significant statistical association between the PROGINS polymorphism and pelvic endometriosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2004;26(8):613-617
DOI 10.1590/S0100-72032004000800004
OBJECTIVE: the aim of the present study was to verify whether there is a correlation between the prevalence of the polymorphism in the progesterone receptor gene named PROGINS and pelvic endometriosis at different stages. METHODS: a case-control study carried out from November 2003 to May 2004. The genotypes of 104 women were analyzed 66 women had had surgically confirmed endometriosis (26 women at stages I-II and 40 at stages III-IV), and 38 were healthy women. The 306-base pair Alu insertion polymorphism in the intron G of the progesterone receptor gene was detected by polymerase chain reaction and analyzed on 2% agarose gel stained with ethidium bromide. ANOVA analysis was performed in order to make comparisons between among the studied groups. RESULTS: the groups of women with endometriosis stages I-II (EndoI group) and stages III-IV (EndoII group) showed statistically significant increased incidence of PROGINS polymorphic allele as compared with the control group: 27% in the EndoI group, 38% in EndoII and 18% in the control group (p < 0.001. In the analyses, a high frequency of the PROGINS insertion was observed in women with endometriosis as compared to healthy women, disregarding the clinical stage of the disease (p = 0.0385). CONCLUSION: there is a significant statistical association between the PROGINS polymorphism and pelvic endometriosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2004;26(4):299-304
DOI 10.1590/S0100-72032004000400006
OBJECTIVE: to determine GSTT1 and GSTM1 null genotype frequencies as well as CYP1A1 polymorphic allele frequencies in a group of women with endometriosis, and to compare these frequencies with those observed in a group without endometriosis (control), aiming at a possible identification of biomarkers of susceptibility to endometriosis. METHODS: a total of 50 women with suggestive clinical signs of endometriosis underwent videolaparoscopy and biopsies were evaluated histologically. Endometriosis was present in 25 women (case group). Negative results were found in 25 women (control group). GSTT1 and GSTM1 null genotypes were assessed by multiplex polymerase chain reaction (PCR). The investigation of the polymorphic allele of the gene CYP1A1 was performed by PCR-RFLP (restriction fragment length polymorphism). For statistical analysis, the Fisher exact test was used. RESULTS: in both groups, the deletion polymorphism frequencies presented values of 16% for the gene GSTT1 and of 44% for the gene GSTM1; therefore, the results did not show differences in the distribution of the GSTT1 and GSTM1 null genotypes among the studied groups. The allelic frequency for the m1 allele of the gene CYP1A1 was higher in the women with endometriosis (0.22), although not statistically significant, when compared to the control group (0.14). CONCLUSION: the results did not show an association between the evaluated polymorphisms and the endometriosis diagnosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2004;26(4):299-304
DOI 10.1590/S0100-72032004000400006
OBJECTIVE: to determine GSTT1 and GSTM1 null genotype frequencies as well as CYP1A1 polymorphic allele frequencies in a group of women with endometriosis, and to compare these frequencies with those observed in a group without endometriosis (control), aiming at a possible identification of biomarkers of susceptibility to endometriosis. METHODS: a total of 50 women with suggestive clinical signs of endometriosis underwent videolaparoscopy and biopsies were evaluated histologically. Endometriosis was present in 25 women (case group). Negative results were found in 25 women (control group). GSTT1 and GSTM1 null genotypes were assessed by multiplex polymerase chain reaction (PCR). The investigation of the polymorphic allele of the gene CYP1A1 was performed by PCR-RFLP (restriction fragment length polymorphism). For statistical analysis, the Fisher exact test was used. RESULTS: in both groups, the deletion polymorphism frequencies presented values of 16% for the gene GSTT1 and of 44% for the gene GSTM1; therefore, the results did not show differences in the distribution of the GSTT1 and GSTM1 null genotypes among the studied groups. The allelic frequency for the m1 allele of the gene CYP1A1 was higher in the women with endometriosis (0.22), although not statistically significant, when compared to the control group (0.14). CONCLUSION: the results did not show an association between the evaluated polymorphisms and the endometriosis diagnosis.
