Genetic polymorphism Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(7):425-431
To evaluate the relationship between vitamin D receptor (VDR) gene polymorphism (FokI [rs10735810]) and serum vitamin D concentration in gestational diabetes mellitus (GDM).
A prospective case-control study that recruited healthy pregnant women (control group) (n = 78) and women with GDM (GDM group) (n = 79), with no other comorbidities. Peripheral blood samples were collected in the 3rd trimester of gestation, and all of the pregnant women were followed-up until the end of the pregnancy and the postpartum period. Serum vitamin D concentrations were measured by high-performance liquid chromatography (HPLC). For genomic polymorphism analysis, the genomic DNA was extracted by the dodecyltrimethylammonium bromide/ cetyltrimethylammonium bromide (DTAB/CTAB) method, and genotyping was performed by the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique, using the restriction enzyme FokI. The Student-t, Mann- Whitney, chi-squared, and Fischer exact tests were used for the analysis of the results.
There was no significant difference between the pregnant women in the control and GDM groups regarding serumvitamin D levels (17.60 ± 8.89 ng/mL versus 23.60 ± 10.68 ng/mL; p = 0.1). Also, no significant difference was detected between the FokI genotypic frequency when the 2 groups were compared with each other (p = 0.41).
There was no association between the FokI polymorphism and the development of GDM, nor was there any change in serum vitamin D levels in patients with GDM.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(7):425-431
To evaluate the relationship between vitamin D receptor (VDR) gene polymorphism (FokI [rs10735810]) and serum vitamin D concentration in gestational diabetes mellitus (GDM).
A prospective case-control study that recruited healthy pregnant women (control group) (n = 78) and women with GDM (GDM group) (n = 79), with no other comorbidities. Peripheral blood samples were collected in the 3rd trimester of gestation, and all of the pregnant women were followed-up until the end of the pregnancy and the postpartum period. Serum vitamin D concentrations were measured by high-performance liquid chromatography (HPLC). For genomic polymorphism analysis, the genomic DNA was extracted by the dodecyltrimethylammonium bromide/ cetyltrimethylammonium bromide (DTAB/CTAB) method, and genotyping was performed by the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique, using the restriction enzyme FokI. The Student-t, Mann- Whitney, chi-squared, and Fischer exact tests were used for the analysis of the results.
There was no significant difference between the pregnant women in the control and GDM groups regarding serumvitamin D levels (17.60 ± 8.89 ng/mL versus 23.60 ± 10.68 ng/mL; p = 0.1). Also, no significant difference was detected between the FokI genotypic frequency when the 2 groups were compared with each other (p = 0.41).
There was no association between the FokI polymorphism and the development of GDM, nor was there any change in serum vitamin D levels in patients with GDM.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2018;40(10):620-624
Epidemiological studies have shown evidence of the effect of genetic variations in the pathogenesis of breast cancer and have suggested a relationship of the disease with genetic polymorphisms. Matrix metallopeptidase 9 (MMP-9) is a collagenase responsible for the degradation of type IV collagen, the major component of the basement membrane, and other essential extra cellular matrix components, being involved in the tumor cell invasion and metastasis. Our objective was to evaluate the relationship between the MMP-9-1562 C/T polymorphism (rs 3918242) and the risk of developing breast cancer.
In this case-control study, the frequency of the MMP-9-1562 C/T polymorphism (rs 3918242) was determined in 148 women with breast cancer and 245 women without the disease. The DNA was extracted from plasma samples, and the gene was amplified by polymerase chain reaction (PCR); the presence of the polymorphism was determined using restriction enzymes.
After adjusting for confounding variables, we found that the polymorphism was not associated with the occurrence of breast cancer (odds ratio [OR] = 1.159, 95% confidence interval [CI]: 0.6625-1.997, p = 0.5964). We also found no association with more advanced disease, the presence of hormone receptors, human epidermal growth factor receptor 2 (HER2) overexpression, or rate of tumor cell proliferation.
We did not observe a relationship between MMP-9-1562 C/T polymorphism (rs 3918242) and the occurrence of breast cancer.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2018;40(10):620-624
Epidemiological studies have shown evidence of the effect of genetic variations in the pathogenesis of breast cancer and have suggested a relationship of the disease with genetic polymorphisms. Matrix metallopeptidase 9 (MMP-9) is a collagenase responsible for the degradation of type IV collagen, the major component of the basement membrane, and other essential extra cellular matrix components, being involved in the tumor cell invasion and metastasis. Our objective was to evaluate the relationship between the MMP-9-1562 C/T polymorphism (rs 3918242) and the risk of developing breast cancer.
In this case-control study, the frequency of the MMP-9-1562 C/T polymorphism (rs 3918242) was determined in 148 women with breast cancer and 245 women without the disease. The DNA was extracted from plasma samples, and the gene was amplified by polymerase chain reaction (PCR); the presence of the polymorphism was determined using restriction enzymes.
After adjusting for confounding variables, we found that the polymorphism was not associated with the occurrence of breast cancer (odds ratio [OR] = 1.159, 95% confidence interval [CI]: 0.6625-1.997, p = 0.5964). We also found no association with more advanced disease, the presence of hormone receptors, human epidermal growth factor receptor 2 (HER2) overexpression, or rate of tumor cell proliferation.
We did not observe a relationship between MMP-9-1562 C/T polymorphism (rs 3918242) and the occurrence of breast cancer.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2018;40(8):450-457
The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women.
In the present case-control study, 45 women with a diagnosis of endometriosis and 78 normal healthy women as a control group were included. The genotyping was determined by real-time polymerase chain reaction (PCR) with Taqman hydrolysis probes (Thermo Fisher Scientific, Darmstadt, Germany). Genotypic and allelic frequencies were analyzed using Chi-squared (χ2) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d’Oncologia, Barcelona, Spain) was used. Levels of 5% (p = 0.05) were considered statistically significant.
No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs13416436 and rs2037815 (CASP8 gene). On the other hand, a significant difference between rs3740286 and rs4064 (FAS gene) was found. Regarding polymorphisms in the FAS gene, a statistically significant differencewas found in co-dominant and dominantmodels. Only the haplotype containing the rs3740286A and rs4064G alleles in the FAS gene were statistically significant.
The polymorphisms in the CASP8 gene were not associated with endometriosis. The results indicate an association between FAS gene polymorphisms and the risk of developing endometriosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2018;40(8):450-457
The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women.
In the present case-control study, 45 women with a diagnosis of endometriosis and 78 normal healthy women as a control group were included. The genotyping was determined by real-time polymerase chain reaction (PCR) with Taqman hydrolysis probes (Thermo Fisher Scientific, Darmstadt, Germany). Genotypic and allelic frequencies were analyzed using Chi-squared (χ2) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d’Oncologia, Barcelona, Spain) was used. Levels of 5% (p = 0.05) were considered statistically significant.
No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs13416436 and rs2037815 (CASP8 gene). On the other hand, a significant difference between rs3740286 and rs4064 (FAS gene) was found. Regarding polymorphisms in the FAS gene, a statistically significant differencewas found in co-dominant and dominantmodels. Only the haplotype containing the rs3740286A and rs4064G alleles in the FAS gene were statistically significant.
The polymorphisms in the CASP8 gene were not associated with endometriosis. The results indicate an association between FAS gene polymorphisms and the risk of developing endometriosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2014;36(10):456-460
DOI 10.1590/SO100-720320140005075
To identify the frequency of polymorphism in the IL-10 gene, rs1800896 (-1082 A/G), in women with preeclampsia (PE) and in women in a control group and to associate the presence of this polymorphism with protection against the development of PE.
This was a case-control study conducted on 54 women with PE, classified according to the criteria of the National High Blood Pressure Education Program, and on 172 control women with at least two healthy pregnancies. The proposed polymorphism was studied by the technique of real time polymerase chain reaction (qPCR), with hydrolysis probes. Statistical analysis was performed using the χ2 test. Odds ratio and confidence interval of 95% were used to measure the strength of association between the studied polymorphism and the development of PE.
Statistically increased frequency of the AG genotype was observed among control women (85 versus 15% in women with PE). The G allele was significantly more frequent among control women than PE women (χ2test, p = 0.01). The odds ratio for carriers of the G allele was 2.13, indicating a lower risk of developing PE compared to non-carriers.
Thus, an association is suggested to occur between the presence of the G allele of the polymorphism in the IL-10 rs1800896 (-1082 A/G) gene and protection against the development of PE. More studies investigating the contribution of these variations and the mechanisms by which they affect the risk of developing PE still need to be undertaken.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2014;36(10):456-460
DOI 10.1590/SO100-720320140005075
To identify the frequency of polymorphism in the IL-10 gene, rs1800896 (-1082 A/G), in women with preeclampsia (PE) and in women in a control group and to associate the presence of this polymorphism with protection against the development of PE.
This was a case-control study conducted on 54 women with PE, classified according to the criteria of the National High Blood Pressure Education Program, and on 172 control women with at least two healthy pregnancies. The proposed polymorphism was studied by the technique of real time polymerase chain reaction (qPCR), with hydrolysis probes. Statistical analysis was performed using the χ2 test. Odds ratio and confidence interval of 95% were used to measure the strength of association between the studied polymorphism and the development of PE.
Statistically increased frequency of the AG genotype was observed among control women (85 versus 15% in women with PE). The G allele was significantly more frequent among control women than PE women (χ2test, p = 0.01). The odds ratio for carriers of the G allele was 2.13, indicating a lower risk of developing PE compared to non-carriers.
Thus, an association is suggested to occur between the presence of the G allele of the polymorphism in the IL-10 rs1800896 (-1082 A/G) gene and protection against the development of PE. More studies investigating the contribution of these variations and the mechanisms by which they affect the risk of developing PE still need to be undertaken.
