Polymorphism, genetic Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(5):229-233
DOI 10.1590/S0100-72032010000500005
PURPOSE: to assess a possible association between polymorphism of the progesterone receptor gene (PROGINS) and recurrent spontaneous abortion (RSA). METHODS: in this case-control study, 85 women with at least three previous spontaneous abortions without an identifiable cause (RSA Group) and 157 women with at least two previous term pregnancies without pathologies and no previous miscarriage (Control Group) were selected. An amount of 10 mL of peripheral blood was collected by venipuncture and genomic DNA was extracted by the DTAB/CTAB method, followed by the polymerase chain reaction (PCR) under specific conditions for this polymorphism and by amplification by 2% agarose gel electrophoresis. The bands were visualized with an ultraviolet light transilluminator and the gels were photographed. Differences in the PROGINS genotype and allele frequencies between groups were analyzed by the χ2 test, with the level of significance set at p<0.05. The Odds Ratio (OR) was also used, with 95% confidence intervals 95%CI. RESULTS: PROGINS genotypic frequencies were 72.3% T1T1 and 27.7% T1T2 for the RSA group and 764% T1T1, 22.3% T1T2 and 1.3% T2T2 for the control group. There were no differecnes between groups when the genotype and allele frequencies were analyzed: respectively p=0.48 (OR: 0.8) and p=0.65 (OR: 0.9). CONCLUSIONS: our results suggest that PROGINS polymorphism is not associated with RSA.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(5):229-233
DOI 10.1590/S0100-72032010000500005
PURPOSE: to assess a possible association between polymorphism of the progesterone receptor gene (PROGINS) and recurrent spontaneous abortion (RSA). METHODS: in this case-control study, 85 women with at least three previous spontaneous abortions without an identifiable cause (RSA Group) and 157 women with at least two previous term pregnancies without pathologies and no previous miscarriage (Control Group) were selected. An amount of 10 mL of peripheral blood was collected by venipuncture and genomic DNA was extracted by the DTAB/CTAB method, followed by the polymerase chain reaction (PCR) under specific conditions for this polymorphism and by amplification by 2% agarose gel electrophoresis. The bands were visualized with an ultraviolet light transilluminator and the gels were photographed. Differences in the PROGINS genotype and allele frequencies between groups were analyzed by the χ2 test, with the level of significance set at p<0.05. The Odds Ratio (OR) was also used, with 95% confidence intervals 95%CI. RESULTS: PROGINS genotypic frequencies were 72.3% T1T1 and 27.7% T1T2 for the RSA group and 764% T1T1, 22.3% T1T2 and 1.3% T2T2 for the control group. There were no differecnes between groups when the genotype and allele frequencies were analyzed: respectively p=0.48 (OR: 0.8) and p=0.65 (OR: 0.9). CONCLUSIONS: our results suggest that PROGINS polymorphism is not associated with RSA.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2006;28(10):581-589
DOI 10.1590/S0100-72032006001000003
PURPOSE: To assess the presence of estrogen receptor gene polymorphisms HaeIII and MspI as well as clinical factors, and their possible associations with high mammographic density in post-menopausal women. METHODS: One hundred and fifteen post-menopausal women, not in use of hormonal therapy and without clinical or mammographic lesions were evaluated. Three independent observers have determined the mammographic density pattern based on the ACR-BIRADS® 2003 (two subjective and one objective evaluations - Adobe Photoshop 7.0 software). Oral swabs (Cytobrush) were obtained to extract DNA and the polymerase chain reaction - restriction fragment length polymorphism) was performed to assess the presence of polymorphisms in intron 1 and exon 1 from estrogen receptor gene (HaeIII and MspI). RESULTS: The HaeIII polymorphism was found in 43 (37.4%) of the 115 women, while MspI was found in 96 (83.5%) of them. There was a good agreement among determinations of the three observers with regard to mammographic density. Thirty-four (29.6%) women had dense breasts and eighty-one (70.4%) had non-dense breasts. CONCLUSION: The estrogen receptor gene polymorphism Haelll showed no association with mammographic density (Fisher = 0.712), while the association between estrogen receptor gene polymorphism Mspl and mammographic density was near significance (Fisher = 0.098). The associations among age, parity and body mass index revealed statistical significance.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2006;28(10):581-589
DOI 10.1590/S0100-72032006001000003
PURPOSE: To assess the presence of estrogen receptor gene polymorphisms HaeIII and MspI as well as clinical factors, and their possible associations with high mammographic density in post-menopausal women. METHODS: One hundred and fifteen post-menopausal women, not in use of hormonal therapy and without clinical or mammographic lesions were evaluated. Three independent observers have determined the mammographic density pattern based on the ACR-BIRADS® 2003 (two subjective and one objective evaluations - Adobe Photoshop 7.0 software). Oral swabs (Cytobrush) were obtained to extract DNA and the polymerase chain reaction - restriction fragment length polymorphism) was performed to assess the presence of polymorphisms in intron 1 and exon 1 from estrogen receptor gene (HaeIII and MspI). RESULTS: The HaeIII polymorphism was found in 43 (37.4%) of the 115 women, while MspI was found in 96 (83.5%) of them. There was a good agreement among determinations of the three observers with regard to mammographic density. Thirty-four (29.6%) women had dense breasts and eighty-one (70.4%) had non-dense breasts. CONCLUSION: The estrogen receptor gene polymorphism Haelll showed no association with mammographic density (Fisher = 0.712), while the association between estrogen receptor gene polymorphism Mspl and mammographic density was near significance (Fisher = 0.098). The associations among age, parity and body mass index revealed statistical significance.
