Library of the School of Health SciencesΠΜΣ Αναπαραγωγική-Αναγεννητική Ιατρική
Δημήτριος Λουτράδης, Καθηγητής, Ιατρική, ΕΚΠΑ
Πέτρος Δρακάκης, Αναπληρωτής Καθηγητής, Ιατρική, ΕΚΠΑ
Αικατερίνη Ντόμαλη, Επίκουρη Καθηγήτρια, Ιατρική, ΕΚΠΑ
Συσχέτιση του πολυμορφισμού TNF-a -1031T/C με την εμφάνιση ενδομητρίωσης σε έναν ευρωπαϊκό πληθυσμό
Association between tumor necrosis factor-alpha gene -1031T/C promoter polymorphism and endometriosis in a European population
Background: Tumor necrosis factor -alpha (TNF-a) is a pro-inflammatory cytokine which plays an important role in pathogenesis of many diseases. Endometriosis is one of the most common gynecological diseases and it is calculated that affects 7-10% of women. There are previous studies which have reported that TNF-a plays an important role in the pathogenesis of endometriosis. This study has purpose to examine if there is an association between the -1031T/C polymorphism and endometriosis in a European population.
Materials and Methods: In this case-control study, participated 51 endometriosis patients and 67 healthy control women. We used tissue of endometriosis cysts from the patients who underwent operation for endometriosis and blood from the healthy women to extract DNA. Polymerase chain reaction (PCR) analysis and the restriction enzyme Bbs I was used to analyze the -1031 T/C polymorphism in the TNF-α gene promoter region. Statistical analysis was performed using the Fisher’s exact test (p-value less than 0,05 was statistically significant) and the Hardy-Weinberg equilibrium.
Results: In the group of patients, 34 (66,7%) women were detected with the TT genotype, 17 (33,3%) with the TC genotype and 0 (0%) with the CC genotype. In the control group, 31 (46,3%) women were detected with the TT genotype, 32 (47,8%) with the TC genotype and 4 (6%) with the CC genotype. There was a significant association between the -1031 T/C polymorphism in the promoter region of the TNF-α gene with endometriosis (P=0.03). There was no significant deviation from the Hardy-Weinberg equilibrium.
Conclusion: The -1031 T/C polymorphism appears more often in the healthy women than the endometriosis patients and this shows that it might has a protective role in endometriosis in the Greek population. Further studies are needed to specify the role of this polymorphism in pathogenesis of endometriosis and the mechanisms that protect the patients from the disease.
Main subject category:
Polymorphism, Tumor necrosis factor alpha, Endometriosis, TNF-a, Promoter, European population
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