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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Analysis of VDR gene polymorphism Fok1 in infertile women with endometriosis

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Author(s):
Fábia Lima Vilarino [1] ; Bianca Bianco [2] ; Denise Maria Christofolini [3] ; Tatiana Goberstein Lerner [4] ; Caio Parente Barbosa [5]
Total Authors: 5
Affiliation:
[1] Faculdade de Medicina do ABC. Centro de Reprodução Humana e Genética. Programa de Pós-Graduação (Doutorado) - Brasil
[2] Faculdade de Medicina do ABC. Departamento de Ginecologia e Obstetrícia - Brasil
[3] Faculdade de Medicina do ABC. Departamento de Ginecologia e Obstetrícia - Brasil
[4] Faculdade de Medicina do ABC. Centro de Reprodução Humana e Genética - Brasil
[5] Faculdade de Medicina do ABC. Centro de Reprodução Humana e Genética - Brasil
Total Affiliations: 5
Document type: Journal article
Source: Revista Brasileira de Ginecologia e Obstetrícia; v. 33, n. 2, p. 65-69, 2011-02-00.
Abstract

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. (AU)

FAPESP's process: 10/00459-5 - Evaluation of VDR polymorphism in women with endometriosis
Grantee:Caio Parente Barbosa
Support type: Regular Research Grants
FAPESP's process: 10/01104-6 - Study of Fok1 polymorphism of VDR gene in women with endometriosis
Grantee:Tatiana Goberstein Lerner
Support type: Scholarships in Brazil - Scientific Initiation