A Search to Identify Genetic Risk Factors for Endometriosis

Carlos Rotman, Rotman C, Larry Fischel, Fischel L, Cortez G, Gabriela Cortez, Greiss H, Hisham Greiss, Nasiruddin Rana, Rana N, John E. Rinehart, John Rinehart, Rinehart J, Carolyn B. Coulam, Coulam CB
American journal of reproductive immunology (New York, N.Y. : 1989) · 2012 · vol. 69(1) , pp. 92–95 · doi:10.1111/aji.12034 · PMID:23167810 · W2017685906
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This study investigated four gene polymorphisms (p53 codon 72, TNF alpha-308, VEGF-1164AA, and SOD) and found no association with endometriosis in the tested patient and control groups.

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Abstract

PROBLEM: To search for molecular markers of endometriosis the following polymorphisms: p53 codon 72 Pro (apoptosis), TNF alpha-308 (inflammation), VEGF-1164AA (angiogenesis), and SOD2 (oxidative stress) were investigated. METHOD OF STUDY: Forty-two women-24 with surgically proven endometriosis and 18 with no endometriosis found at the time of laparoscopy-had buccal swabs taken for DNA analyses of 4 gene polymorphisms including p53codon72, TNF-308 G/A, VEGF-1154G/A, SOD Ala16Val DNA. The frequencies of genotypes and alleles of these polymorphisms were compared between women with and without endometriosis. RESULTS: No specific gene mutation differences for the four genes tested nor differences in the frequencies of heterozygous and homozygous mutations were found between patients with endometriosis and controls. In addition, no differences in allelic frequencies of the four genetic polymorphisms were observed between patients with endometriosis and control. CONCLUSION: Endometriosis is not associated with gene mutations for p53codon72, TNF-308 G/A, VEGF-1154G/A, SOD Ala16Val.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Superoxide Dismutase Tumor Necrosis Factor-alpha Tumor Suppressor Protein p53 Vascular Endothelial Growth Factor A Adult Apoptosis Apoptosis DNA Mutational Analysis Endometriosis Female Gene Frequency Genetic Markers Genetic Markers Genotype Humans Inflammation Inflammation Middle Aged Neovascularization, Pathologic

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