Association of VEGF +405G>C polymorphism with endometriosis

Vanaja MC, Maria Celestina Vanaja, Rozati R, Roya Rozati, Khaja Nassaruddin, Nassaruddin K, Satti Vishnupriya, Vishnupriya S
Frontiers in bioscience (Elite edition) · 2013 · doi:10.2741/e655 · PMID:23277029
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VEGF +405G>C polymorphism genotype and allele frequencies were significantly different in endometriosis patients compared to controls, suggesting an association with endometriosis risk and related conditions.

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This study investigated whether the VEGF gene SNP +405G>C is associated with risk of endometriosis, including endometriosis associated with adenomyosis and “chocolate cysts.” Genomic DNA from endometriosis patients and controls was genotyped using PCR-RFLP, and genotype (X2=21.713, 2 df, P<0.0001) and allele (X2=10.697, 1 df, P=0.0011) frequencies differed significantly between patients and control women, driven by a higher proportion of homozygous GG carriers. The genotype and allele frequencies also differed significantly across endometriosis clinical subgroups, but there were no significant subgroup differences in the VEGF +405G>C genotype or allele distributions. This paper is centrally about endometriosis — it specifically tests the association between VEGF +405G>C polymorphism and endometriosis risk, including cases linked to adenomyosis and chocolate cysts.

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Abstract

The present study was designed to explore the association between the SNP +405G>C of the VEGF gene with the risk of endometriosis, and endometriosis associated with adenomyosis and chocolate cysts. Following extraction of genomic DNA, genotyping of the +405 G>C polymorphisms of the VEGF gene was performed by PCR - RFLP analysis. The genotype (X2 =21.713, 2 df, P = < 0.0001) and allele (X2 =10.697, 1 df, P = 0.0011) frequencies of endometriosis patients were significantly different from those of the control women. The genotype and allele frequencies significantly differed in all the clinical subgroups of endometriosis patients. The significant differences in allele frequencies were the result of an increased proportion of homozygote GG genotype carriers. No significant difference was observed between the clinical subgroups with respect to the genotype and allele frequencies of the VEGF +405G>C polymorphism. These findings suggest that the VEGF +405 G>C polymorphism is associated with the risk of endometriosis, and endometriosis associated with adenomyosis and chocolate cysts.
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Abstract

The present study was designed to explore the association between the SNP +405G>C of the VEGF gene with the risk of endometriosis, and endometriosis associated with adenomyosis and chocolate cysts. Following extraction of genomic DNA, genotyping of the +405 G>C polymorphisms of the VEGF gene was performed by PCR - RFLP analysis. The genotype (X2 =21.713, 2 df, P = < 0.0001) and allele (X2 =10.697, 1 df, P = 0.0011) frequencies of endometriosis patients were significantly different from those of the control women. The genotype and allele frequencies significantly differed in all the clinical subgroups of endometriosis patients. The significant differences in allele frequencies were the result of an increased proportion of homozygote GG genotype carriers. No significant difference was observed between the clinical subgroups with respect to the genotype and allele frequencies of the VEGF +405G>C polymorphism. These findings suggest that the VEGF +405 G>C polymorphism is associated with the risk of endometriosis, and endometriosis associated with adenomyosis and chocolate cysts.

Keywords

- Angiogenesis - Endometriosis - Polymorphism - VEGF - Laparoscopy

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Condition tags

endometriosisadenomyosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Vascular Endothelial Growth Factor A Animals Case-Control Studies DNA Primers DNA Primers Endometriosis Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype India Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Prospective Studies

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pubmed
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