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

Zhao, Zhen Zhen, Nyholt, Dale R., Thomas, Shane, Treloar, Susan A., & Montgomery, Grant W. (2008) Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis. Molecular Human Reproduction, 14(9), pp. 531-538.

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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'-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 (-2578 A/C, rs699947; -460 T/C, rs833061; +405 G/C, rs2010963 and +936 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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ID Code: 92093
Item Type: Journal Article
Refereed: Yes
Keywords: 5' Untranslated Regions/genetics, Alleles, Australia, Endometriosis/*genetics/pathology, Family Health, Female, Gene Frequency, Genotype, Haplotypes, Humans, Meta-Analysis as Topic, Models, Genetic, *Polymorphism, Genetic, Polymorphism, Single Nucleotide, Review Literature as Topic, Vascular Endothelial Growth Factor A/*genetics
DOI: 10.1093/molehr/gan043
ISSN: 1460-2407
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 20 Jan 2016 02:02
Last Modified: 22 Jan 2016 05:13

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