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

Silva, K.S.F.; Moura, K.K.V.O.

doi:10.4238/gmr.15028135

Cited by 10 publications

(9 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…CAT3: Category 3 studies using other sources of controls, such as newborns, volunteers without clinical data, and males. These CAT3 studies were not considered for meta-analysis because (Altmae et al 2007;Georgiou et al 1999;Govindan et al 2009;Hsieh, Chang, Tsai, Lin, et al 2005;Huang et al 2014;Huber et al 2005;Kitawaki et al 2001;Lamp et al 2011;Luisi et al 2006;Oehler et al 2004;Paskulin et al 2013;Renner et al 2006;Sato et al 2008;Seko et al 2004;Trabert et al 2011;Wang et al 2013;Wang et al 2004;Wu et al 2013;Xie et al 2009) and an additional study (Hsieh et al 2007) that was incorrectly referenced and listed being as relevant for ESR2)) progesterone receptor (PGR) : (Berchuck et al 2004;Christofolini et al 2011;Costa et al 2011;D'Amora et al 2009;De Carvalho et al 2007;Gentilini, Vigano, et al 2008;Gimenes et al 2010;Govindan et al 2007;Lamp et al 2011;Near et al 2011;Renner et al 2008;Silva and Moura 2016;Trabert et al 2011;Treloar et al 2005;van Kaam, Romano, Schouten, et al 2007;Wu et al 2013) follicule stimulating hormone receptor (FSHR) : (Andre et al 2018;Kerimoglu et al 2015;Schm...…”

Section: Resultsmentioning

confidence: 99%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

View full text Add to dashboard Cite

BACKGROUND Endometriosis is an estrogen-dependent gynecological disorder that affects at least 10% of women of reproductive age. It may lead to infertility and non-specific symptoms such as chronic pelvic pain. Endometriosis screening and diagnosis are difficult and time-consuming. Late diagnosis (with a delay ranging from 3.3 to 10.7 years) is a major problem and may contribute to disease progression and a worse response to treatment once initiated. Efficient screening tests might reduce this diagnostic delay. As endometriosis is presumed to be a complex disease with several genetic and non-genetic pathogenic factors, many researchers have sought to identify polymorphisms that predispose to this condition. OBJECTIVE AND RATIONALE We performed a systematic review and meta-analysis of the most regularly reported polymorphisms in order to identify those that might predispose to endometriosis and might thus be of value in screening. SEARCH METHODS The MEDLINE database was searched for English-language publications on DNA polymorphisms in endometriosis, with no date restriction. The PubTator text mining tool was used to extract gene names from the selected publications’ abstracts. We only selected polymorphisms reported by at least three studies, having applied strict inclusion and exclusion criteria to their control populations. No stratification based on ethnicity was performed. All steps were carried out according to PRISMA guidelines. OUTCOMES The initial selection of 395 publications cited 242 different genes. Sixty-two genes (corresponding to 265 different polymorphisms) were cited at least in three publications. After the application of our other selection criteria (an original case-control study of endometriosis, a reported association between endometriosis and at least one polymorphism, data on women of reproductive age and a diagnosis of endometriosis in the cases established by surgery and/or MRI and confirmed by histology), 28 polymorphisms were eligible for meta-analysis. Only five of the 28 polymorphisms were found to be significantly associated with endometriosis: interferon gamma (IFNG) (CA) repeat, glutathione S-transferase mu 1 (GSTM1) null genotype, glutathione S-transferase pi 1 (GSTP1) rs1695 and wingless-type MMTV integration site family member 4 (WNT4) rs16826658 and rs2235529. Six others showed a significant trend towards an association: progesterone receptor (PGR) PROGINS, interCellular adhesion molecule 1 (ICAM1) rs1799969, aryl-hydrocarbon receptor repressor (AHRR) rs2292596, cytochrome family 17 subfamily A polypeptide 1 (CYP17A1) rs743572, CYP2C19 rs4244285 and peroxisome proliferator-activated receptor gamma (PPARG) rs1801282), and 12 showed a significant trend towards the lack of an association: tumor necrosis factor (TNF) rs1799964, interleukin 6 (IL6) rs1800796, transforming growth factor beta 1 (TGFB1) rs1800469, estrogen receptor 1 (ESR1) rs2234693, PGR rs10895068, FSH receptor (FSHR) rs6166, ICAM1 rs5498, CYP1A1 rs4646903, CYP19A1 rs10046, tumor protein 53 (TP53) rs1042522, X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1) rs25487 and serpin peptidase inhibitor clade E member 1 (SERPINE1) rs1799889; however, for the 18 polymorphisms identified in the latter two groups, further studies of the potential association with the endometriosis risk are needed. The remaining five of the 28 polymorphisms were not associated with endometriosis: glutathione S-transferase theta 1 (GSTT1) null genotype, vascular endothelial growth factor alpha (VEGFA) rs699947, rs833061, rs2010963 and rs3025039. WIDER IMPLICATIONS By carefully taking account of how the control populations were defined, we identified polymorphisms that might be candidates for use in endometriosis screening and polymorphisms not associated with endometriosis. This might constitute the first step towards identifying polymorphism combinations that predispose to endometriosis (IFNG (CA) repeat, GSTM1 null genotype, GSTP1 rs1695, WNT4 rs16826658 and WNT4 rs2235529) in a large cohort of patients with well-defined inclusion criteria. In turn, these results might improve the diagnosis of endometriosis in primary care. Lastly, our present findings may enable a better understanding of endometriosis and improve the management of patients with this disease.

show abstract

Section: Resultsmentioning

confidence: 99%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

View full text Add to dashboard Cite

show abstract

“…Regarding the p53 protein, which is coded by the TP53 gene, is known as the guardian of the genome. The protein is a classical tumor suppressor protein related to cancer and several other diseases related to genomic instability, such as endometriosis, atherosclerosis and infertility [58][59][60][61]. Experimental approaches along with bioinformatic tools have contributed to increase our knowledge regarding diseases, development of new diagnosis and therapeutic strategies [62,63].…”

Section: Resultsmentioning

confidence: 99%

Therapeutic Design of Peptide Modulators of the Interaction Between eNOS and p53 in Atherosclerosis

Ds¹,

Lp²,

Am³

et al. 2019

JICOA

View full text Add to dashboard Cite

Atherosclerosis is a cardiovascular disease featuring a chronic inflammation due to the accumulation of lipids within the tunica intima of arteries. The development of the disease depends on dynamic changes in the vascular biology. Immune system cells directly influence the pathogenesis of atherosclerosis during the inflammatory process. Currently, atherosclerosis diagnosis is performed by non-invasive or invasive methods depending on the type of arteries that are being investigated. New diagnostic and therapeutic procedures should improve the quality of life of patients. Some of the genes that could be biomarkers of cardiovascular diseases are TP53 and eNOS. The protein p53 is recognized as a tumor suppressor protein that controls DNA repair, cell cycle progression or arrest and apoptosis. These functions that p53 exerts are well known and some other functions are being investigated, such as its role in the cardiovascular system. The eNOS gene regulates the levels of nitric oxide, which is vital for several intracellular biological functions, such as vasodilation, vascular homeostasis, protection of arteries against injuries, cellular growth, signaling pathways and immune response among others. Here, we used an in-silico approach to predict four models of interaction between clinically important proteins (eNOS and p53), to predict the interface of interaction and to rationally design modulating peptides to be tested in vitro and in vivo and possibly used as a therapeutic agent.

show abstract

“…We used the ZFX/ZFY primers as a internal control. PCR reactions were performed with a final volume of 25 μl according to a published protocol (Silva and Moura, 2016). Table 1.…”

Section: Methodsmentioning

confidence: 99%