Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil)

K S F Silva, Silva KS, K K V O Moura, Moura KK
Genetics and molecular research : GMR · 2016 · vol. 15(2) · doi:10.4238/gmr.15028135 · PMID:27323100 · W2465977678
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This study analyzed genetic polymorphisms in 6 genes within endometriosis patients, finding significant associations between multiple gene polymorphisms and disease onset/progression.

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Abstract

In healthy women, intra- and extracellular controls prevent the attachment and proliferation of ectopic endometrial cells. During endometriosis, abnormalities in these control mechanisms permit the survival of endometrial cells, their subsequent attachment to the peritoneal cavity, and disease progression. These abnormal cells cause invasion of tissues and induce an inflammatory response. Several genetic, immunological, and environmental factors contribute to this complex process. In this study we examined 6 polymorphisms for 6 different genes (p53; estrogen receptor β; progesterone receptor; GSTM1; GSTT1; CYP1A1). We obtained polymorphic genotype frequencies of all genes for 50 patients and analyzed them using the Fisher exact test or G test. Initially, we analyzed the genes in groups of 2, followed by 3. We found a significant association between polymorphisms in 6 pairs of genes (p53-ERβshowed 5.9-times higher frequency in the experimental group, p53-GSTM1 showed 2.39 times higher, 65.5% patients showed p53-CYP1A1 polymorphism, ERβ-PROGINS showed 3.0-times higher frequency, while 31.25% patients showed GSTM1- PROGINS and GSTT1-CYP1A1 polymorphism). Positive results were found in 15 situations when genes were analyzed in groups of 3; the most significant result corresponded to polymorphisms of p53, ERβand GSTM1 seen in 20%; PROGINS, ERβand GSTM1 in 18%; and p53, ERβand PROGINS in 12% patients. The results indicate that the presence of polymorphisms in more than one endometriosis-related gene is associated with onset of disease and progression. Future studies should focus on these genes to understand their inter-relationships and explore the possibility of developing new diagnostic techniques based on molecular markers.

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Condition tags

endometriosis

MeSH descriptors

Cytochrome P-450 CYP1A1 Endometriosis Estrogen Receptor beta Glutathione Transferase Receptors, Progesterone Tumor Suppressor Protein p53 Adult Adult Brazil Brazil Case-Control Studies Case-Control Studies Cytochrome P-450 CYP1A1 Cytochrome P-450 CYP1A1 Endometriosis Endometriosis Endometriosis Estrogen Receptor beta Estrogen Receptor beta Female

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (36)

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