Glutathione S-transferase M1 and T1 gene polymorphisms in Brazilian women with endometriosis

Kubiszeski, Eloísa Helena; Yamamoto, Márcia Marly Winck; Seidel, Joziane Agnoria da Silva; Barbosa, Jacklyne Silva; Galera, Marcial Francis; Galera, Bianca Borsatto

doi:10.1007/s10815-015-0554-7

Cited by 12 publications

(12 citation statements)

References 26 publications

(63 reference statements)

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“…The result for GSTM1 and GSTT1 deletion polymorphisms concerning the GSTM1*0/*0 and GSTT1*0/*0 genotype was 49% and 31%. This is an agreement with previous report of Kubiszeski et al [9] in Cuiabá population (50% and 32%) and Rocha et al [10] in Amazônia population. Other studies in the Brazilian population from Bahia, performed by Rocha et al [10] and Pinhel et al [11] in the population from São Paulo confirm our findings in the Goiânia population.…”

Section: Discussionsupporting

confidence: 94%

Investigation of Gluthatione S-Transferase Variants in a Healthy Population in Goiânia-Go

Pereira¹,

Bérgamo²,

Reis³

et al. 2018

Adv Tech Biol Med

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The study was performed according approved by the ethics committee of Federal University of Goias (approval CEP: 895.552). In the current survey, 100 patients (35M/65F) of both genders and aged 18-90 (M: 30.2) years old considered healthy and practicing physical activity 2 to 3 times a week, were enrolled after receiving their informed consent. Sample collection and DNA analyzes Peripheral blood (5mL) was collected in EDTA vacutainer tubes from all participating individuals after obtaining their written consent. Until the DNA extraction blood DNA collections was store a-20°C. Genomic DNA extraction was performed from whole blood using a Purelink Genomic DNA Kit (Invitrogen, Life Technologies Inc.; USA) and the concentration was measured using a NanoDrop™ 2000/2000c Spectrophotometers (Thermo Scientific, USA).

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Section: Discussionsupporting

confidence: 94%

Investigation of Gluthatione S-Transferase Variants in a Healthy Population in Goiânia-Go

Pereira¹,

Bérgamo²,

Reis³

et al. 2018

Adv Tech Biol Med

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“…Age groups did not impact DEHP serum levels. Controversy remains, as DEHP is broken down by glutathione S-transferase and P450 enzyme, which has been reported to be compromised in endometriosis patients [72]. This may explain the difference in serum concentration, as the control patients are able to metabolize DEHP into metabolites which were not recorded.…”

Section: Phthalate Estersmentioning

confidence: 99%

The Link between Environmental Toxicant Exposure and Endometriosis Re-Examined

Freger¹,

Foster²

2021

Endometriosis

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Endometriosis is widely acknowledged to be an estrogen dependent disease or unknown etiology. Recognition that environmental toxicants can bind with and activate the estrogen receptor, dysregulate steroid metabolism and, in some cases, act as anti-androgenic substances (phthalate esters) has led to proposal that exposure to environmental toxicants are associated with increased risk of endometriosis. Since our last review of the subject in 2008, the literature has expanded with several epidemiological and biomonitoring studies suggesting a potential association, whereas others have been unable to demonstrate a link between exposure and enhanced risk. Therefore, we carried out a systematic review and critical appraisal of the literature published over the past decade (2009-2019). The majority of studies found dealt with exposure to polychlorinated biphenyls (PCBs), dioxins, dioxin-like and non-dioxin-like compounds, bisphenol A and phthalate esters. Several studies suggest a potential association between exposure to environmental toxicants; however, important weaknesses in study design, methodology, and analysis together with many contradictory studies weaken confidence in these associations. Consequently, we conclude that despite a growing literature, evidence for an association between exposure to environmental toxicants and risk of endometriosis remains weak.

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“…Of the 28 studies dealing with the glutathione S-transferase mu 1 (GSTM1) null genotype, 15 studies were included: 11 CAT1 studies (Babu et al 2005;Hadfield et al 2001;Hassani et al 2016;Huang et al 2010;Hur et al 2005;Kim et al 2007;Kubiszeski et al 2015;Roya, Baludu, and Reddy 2009;Vichi et al 2012) and four CAT2 studies (Arvanitis et al 2003;Baranova et al 1999;Wu et al 2012).…”

Section: Icam1 Genementioning

confidence: 99%

“…In contrast, five earlier studies concluded that the GSTT1 null genotype is associated with endometriosis susceptibility (Chen, Xu, et al 2015;Ding et al 2014;Guo 2005;Xin et al 2016;Zhu et al 2014). However, we included more recent data in the meta-analysis (including three case-control studies Kubiszeski et al 2015)), and excluded the CAT3 studies (Frare et al 2013;Lin et al 2003;Morizane et al 2004) and studies not published in English (Ding et al 2004;Ivashchenko et al 2003) that were taken into account in the earlier meta-analyses. However, it is clear that the selection of control participants influences the overall result, as discussed above for CYP17A1 rs743572, nor the disease stage for understanding the differences observed between the various meta-analyses.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

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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.

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Glutathione S-transferase M1 and T1 gene polymorphisms in Brazilian women with endometriosis

Abstract: GSTM1 null genotype frequency was similar between cases and controls. The GSTT1 null genotype was more frequent in the control group.

Cited by 12 publications

References 26 publications

Investigation of Gluthatione S-Transferase Variants in a Healthy Population in Goiânia-Go

Investigation of Gluthatione S-Transferase Variants in a Healthy Population in Goiânia-Go

The Link between Environmental Toxicant Exposure and Endometriosis Re-Examined

Polymorphisms and endometriosis: a systematic review and meta-analyses

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