Hum. Reprod. Advance Access published online on October 30, 2007
Human Reproduction, doi:10.1093/humrep/dem341
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The vascular endothelial growth factor +405G>C polymorphism in endometriosis
1 Molecular Biology Laboratory, Istituto Auxologico Italiano, Cusano Milanino, Milan, Italy 2 Università degli Studi di Milano, Milan, Italy 3 Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy 4 Ospedale Macedonio Melloni, Milan, Italy
5 Correspondence address. Tel: +39-02-619112576; Fax: +39-02-619113033; E-mail: a.diblasio{at}auxologico.it
BACKGROUND: Vascular endothelial growth factor (VEGF) is a potent stimulus of angiogenesis potentially contributing to the pathogenesis of endometriosis. The aim of this study was to investigate the potential association between the single nucleotide polymorphism +405G>C of the VEGF gene with the risk of endometriosis, for the first time in the Caucasian population.
METHODS: The polymorphism +405G>C of the VEGF gene was examined in n = 203 Italian women affected by endometriosis and in n = 140 women without laparoscopic evidence of the disease. All the women were genotyped by PCR-restriction fragment length polymorphism from venous blood samples. We then performed a meta-analysis including results from the present study and from the two previously published studies on this topic.
RESULTS: The distribution of the three different genotypes significantly differed between women with and without the disease (P = 0.03). The odds ratio (95% confidence interval) for endometriosis in women carrying the C allele was 1.8 (1.2–2.8). The Breslow–Day test revealed statistically significant heterogeneity among the studies performed so far thus indicating inconsistency among studies and excluding the possibility of obtaining a common estimation of the effect.
CONCLUSIONS: Results obtained herein are in keeping with those obtained previously and support a role for the +405G>C VEGF polymorphism in endometriosis development, although a further, larger study is required to confirm our findings. However, this effect may depend on the population studied. Ethnicity and the characteristics of endometriosis are likely to influence this association.
Key words: endometriosis/vascular endothelial growth factor/405G>C/polymorphism
Submitted on March 5, 2007; resubmitted on August 9, 2007; accepted on August 30, 2007.
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