Investigation of biomarkers in Endometriosis-associated infertility: Systematic Review.

The relationship between endometriosis and infertility is still unknown, but it is possible that genetic polymorphisms influence these two variables. This study aims to identify, in the literature, which polymorphisms are related to infertility in women with endometriosis. A search was performed in databases using the descriptors: polymorphisms genetics and infertility and endometriosis. 386 articles were identified, and after applying the inclusion and exclusion criteria, 33 case-control studies were included. Genes and their respective polymorphisms, which exhibited statistically significant values, were classified into three categories: related to metabolic/cellular processes, steroidogenesis and sex hormone receptors, inflammation and immune response. In summary, the results of these studies suggest that the polymorphisms rs882605 of MUC4 gene, rs16826658 of WNT4 gene, rs10953316 of MUC17 gene, rs10928050 of KAZN gene, rs1799889 of PAI-1 gene, (TA)n repeats of ESR1 gene, (CA)n repeats of ESR2 gene, rs605059 of HSD17B1 gene, rs743572 of CYP17A1 gene, insLQ of LHR gene, p.Ile49Ser of AMH gene, rs12700667 of NPVF/NFE2L3 gene, G1502A of LHß gene, G + 1730A of ERß gene, rs7528684 of FCRL3 gene, rs3761549 of FOXP3 gene and rs28362491 of NFKß1 gene are implicated in the etiology of infertility in women with endometriosis.

FAS gene polymorphisms (rs3740286 and rs4064) were not associated with pre-eclampsia risk.

Pre-eclampsia results in real risk and significant impact on indicators related to maternal and child health. The only known treatment is delivery of the fetus and placenta. Despite intensive research, the causes of PE remain to be elucidated. It is suggested that pre-eclampsia is caused by a global maternal inflammatory response to a damaged placenta. Besides inflammation, cytotoxic and apoptotic mechanisms are also implicated in the pathogenesis of pre-eclampsia. Considering the importance of apoptosis to pre-eclampsia genesis, the aim of this study was to determine the frequencies of the genotypes for FAS gene polymorphisms (rs3740286 and rs4064) and to associate these with pre-eclampsia development. Women with and without pre-eclampsia were investigated. Accordingly, peripheral blood was collected, and DNA extracted, followed by genotyping using Real-time PCR with hydrolysis probe. The results showed no association between genotypes and pre-eclampsia development for both polymorphisms studied (χ2=3.39; p=.177, for rs3740286 and χ2=0.119; p=.94 for rs4064). Women with familiar history of pre-eclampsia and primiparity showed more probability to develop the condition, by multiple logistic regression analysis (OR=8.61, CI=3.39-21.86, p<0.0001; OR=6.64. CI=2.94-14.99, p<0.0001, respectively). It seems that FAS gene polymorphisms (rs3740286 and rs4064) might not be important candidates for the development of pre-eclampsia.