Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis

Zhao ZZ, Zhiyun Zhao, Zhen Zhen Zhao, Dale R. Nyholt, Thomas S, Shane Thomas, Treloar SA, Susan A. Treloar, Grant W. Montgomery
Molecular human reproduction · 2008 · vol. 14(9) , pp. 531–538 · doi:10.1093/molehr/gan043 · PMID:18650217 · W2106464504
article OA: bronze CC0 ⤵ 28 in-corpus citations
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This study genotyped four VEGF polymorphisms in Australian familial endometriosis cases and controls and found no association, with meta-analysis suggesting prior associations may be due to assay problems.

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Abstract

Vascular endothelial growth factor (VEGF) is an endothelial cell-specific angiogenic protein suspected to be involved in the pathogenesis of endometriosis by establishing a new blood supply to the human exfoliated endometrium. Several transcription factor-binding sites are found in the VEGF 5 0 -untranslated region and variation within the region increases the transcriptional activity. Six previous studies which tested between one and three single nucleotide polymorphisms (SNPs) in samples comprising 105 -215 cases and 100 -219 controls have produced conflicting evidence for association between the SNPs in the VEGF region and endometriosis. To further investigate the reported association between VEGF variants and endometriosis, we tested the four VEGF polymorphisms (22578 A/C, rs699947; 2460 T/C, rs833061; 1405 G/C, rs2010963 and 1936 C/T, rs3025039) in a large Australian sample of 958 familial endometriosis cases and 959 controls. We also conducted a literature-based review of all relevant association studies of these VEGF SNPs in endometriosis and performed a meta-analysis. There was no evidence for association between endometriosis and the VEGF polymorphisms genotyped in our study. Combined association results from a meta-analysis did not provide any evidence for either genotypic or allelic association with endometriosis. Our detailed review and meta-analysis of the VEGF polymorphisms suggests that genotyping assay problems may underlie the previously reported associations between VEGF variants and endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Polymorphism, Genetic Vascular Endothelial Growth Factor A 5' Untranslated Regions 5' Untranslated Regions Alleles Australia Endometriosis Endometriosis Family Health Female Gene Frequency Genotype Haplotypes Humans Meta-Analysis as Topic Models, Genetic Polymorphism, Single Nucleotide Review Literature as Topic Vascular Endothelial Growth Factor A

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