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A Search to Identify Genetic Risk Factors for Endometriosis
Author(s) -
Rotman Carlos,
Fischel Larry,
Cortez Gabriela,
Greiss Hisham,
Rasiruddin,
Rinehart John,
Coulam Carolyn B.
Publication year - 2013
Publication title -
american journal of reproductive immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.071
H-Index - 97
eISSN - 1600-0897
pISSN - 1046-7408
DOI - 10.1111/aji.12034
Subject(s) - endometriosis , genotype , allele , gene , buccal swab , angiogenesis , biology , andrology , medicine , genetics
Problem To search for molecular markers of endometriosis the following polymorphisms: p53 codon 72 Pro (apoptosis), TNF alpha‐308 (inflammation), VEGF ‐1164 AA (angiogenesis), and SOD 2 (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 ‐1154 G / A , SOD A la16 V al 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 ‐1154 G / A , SOD A la16 V al.