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Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(2):65-69
DOI 10.1590/S0100-72032011000200002
PURPOSE: to evaluate the frequency of VDR gene polymorphism Fok1 in infertile women with endometriosis and Control and its relation to the disease. METHODS: a case-control study that included 147 infertile women with endometriosis and 154 fertile women without endometriosis as Control. Fok1 polymorphism (rs10735810, T2C), which promotes a T/C exchange in exon 2 of the VDR gene, was identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), that involves the combination of amplification by PCR and digestion with restriction endonuclease. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value < 0.05 was considered statistically significant. RESULTS: the TT, TC and CC genotype frequencies of VDR Fok1 polymorphism were 44.2%, 46.9% and 8.9% in infertile women with endometriosis and 41.6%, 50% and 8.4% in the Control Group. No significant difference was found (p=0.8), even when the patients were subdivided according to the stage of endometriosis (p=0.3 for minimal and mild endometriosis and p=0.2 for moderate and severe endometriosis). Alleles T and C were present, respectively, in 67.6% and 32.3% of infertile women with endometriosis (p=0.8), in 63.5% and 36.5% of women with minimal/mild endometriosis (p=0.5), in 72.5% and 27.5% of women with moderate/severe endometriosis (p=0.2), and in 66.6% and 33.4% of the Control Group. No statistically significant difference was found among any groups and the Control. CONCLUSION: the results suggest that VDR gene polymorphism Fok1 does not confer genetic susceptibility to endometriosis-associated infertility in the Brazilian population.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(2):65-69
DOI 10.1590/S0100-72032011000200002
PURPOSE: to evaluate the frequency of VDR gene polymorphism Fok1 in infertile women with endometriosis and Control and its relation to the disease. METHODS: a case-control study that included 147 infertile women with endometriosis and 154 fertile women without endometriosis as Control. Fok1 polymorphism (rs10735810, T2C), which promotes a T/C exchange in exon 2 of the VDR gene, was identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), that involves the combination of amplification by PCR and digestion with restriction endonuclease. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value < 0.05 was considered statistically significant. RESULTS: the TT, TC and CC genotype frequencies of VDR Fok1 polymorphism were 44.2%, 46.9% and 8.9% in infertile women with endometriosis and 41.6%, 50% and 8.4% in the Control Group. No significant difference was found (p=0.8), even when the patients were subdivided according to the stage of endometriosis (p=0.3 for minimal and mild endometriosis and p=0.2 for moderate and severe endometriosis). Alleles T and C were present, respectively, in 67.6% and 32.3% of infertile women with endometriosis (p=0.8), in 63.5% and 36.5% of women with minimal/mild endometriosis (p=0.5), in 72.5% and 27.5% of women with moderate/severe endometriosis (p=0.2), and in 66.6% and 33.4% of the Control Group. No statistically significant difference was found among any groups and the Control. CONCLUSION: the results suggest that VDR gene polymorphism Fok1 does not confer genetic susceptibility to endometriosis-associated infertility in the Brazilian population.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(1):37-42
DOI 10.1590/S0100-72032011000100006
PURPOSE: to evaluate the frequency of TP53 codon 72 polymorphism in infertile women with endometriosis, women with idiopathic infertility, controls and its relation to the disease. METHODS: a case-control study that included 198 infertile women with endometriosis, 70 women with idiopathic infertility and 169 fertile women without endometriosis as control. Detection of TP53 codon 72 gene polymorphism (rs1042522, Arg/C:Pro/G), that promotes a C/G exchange in the coding region of the gene, was performed by real time Polymerase Chain Reaction (PCR), using the TaqMan system of primers, that flank the implicated region and probes labeled with different fluorescent dyes, one for allele C and other for allele G. When two dyes were observed, the patient was considered to be heterozygous CG. In the presence of only one dye, the individual was considered to be homozygous CC or GG. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value <0.05 was considered to be statistically significant. RESULTS: we found no statistically significant difference in the distribution of TP53 codon 72 polymorphism genotypes CC, CG or GG (p=0.7) and alleles C or G (p=0.4) between infertile patients with endometriosis and controls (p=0.4), regardless of the stage of the disease. In relation to infertility, no statistically significant difference in the genotype or allele distribution (p=1.0 and p=0.9, respectively) was observed between idiopathic infertile women and controls. Considering the dominant inheritance model, again, no statistically significant difference was found even in the endometriosis (p=0.5) or the idiopathic infertility group (p=0.9) when compared to controls. Regarding the recessive inheritance model no statistically significant difference was found, with p=0.6 and p=1.0, respectively, for the endometriosis and idiopathic infertility groups. CONCLUSION: the results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis and/or infertility in the Brazilian population, not even the severe form of the disease.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(1):37-42
DOI 10.1590/S0100-72032011000100006
PURPOSE: to evaluate the frequency of TP53 codon 72 polymorphism in infertile women with endometriosis, women with idiopathic infertility, controls and its relation to the disease. METHODS: a case-control study that included 198 infertile women with endometriosis, 70 women with idiopathic infertility and 169 fertile women without endometriosis as control. Detection of TP53 codon 72 gene polymorphism (rs1042522, Arg/C:Pro/G), that promotes a C/G exchange in the coding region of the gene, was performed by real time Polymerase Chain Reaction (PCR), using the TaqMan system of primers, that flank the implicated region and probes labeled with different fluorescent dyes, one for allele C and other for allele G. When two dyes were observed, the patient was considered to be heterozygous CG. In the presence of only one dye, the individual was considered to be homozygous CC or GG. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value <0.05 was considered to be statistically significant. RESULTS: we found no statistically significant difference in the distribution of TP53 codon 72 polymorphism genotypes CC, CG or GG (p=0.7) and alleles C or G (p=0.4) between infertile patients with endometriosis and controls (p=0.4), regardless of the stage of the disease. In relation to infertility, no statistically significant difference in the genotype or allele distribution (p=1.0 and p=0.9, respectively) was observed between idiopathic infertile women and controls. Considering the dominant inheritance model, again, no statistically significant difference was found even in the endometriosis (p=0.5) or the idiopathic infertility group (p=0.9) when compared to controls. Regarding the recessive inheritance model no statistically significant difference was found, with p=0.6 and p=1.0, respectively, for the endometriosis and idiopathic infertility groups. CONCLUSION: the results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis and/or infertility in the Brazilian population, not even the severe form of the disease.
