Analysis of the transforming growth factor β1 gene −509 C/T polymorphism in patients with advanced-stage endometriosis

Kim, Jin Ju; Choi, Young Min; Choung, Seon Ha; Yoon, Sang Ho; Lee, Kyu Sup; Ku, Seung Yup; Kim, Jung Gu; Moon, Shin Yong

doi:10.1016/j.fertnstert.2009.01.082

Cited by 13 publications

(11 citation statements)

References 24 publications

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“…In contrast, no association between this polymorphism and late‐stage endometriosis was found in this study. This finding is compatible with our previous results, which showed no association with advanced‐stage endometriosis 16 and with the report of van Kaam et al., 17 who found no evidence of an association with deep infiltrating endometriosis in Dutch women. No significant differences in the TGFB1 −509C/T polymorphism were observed between women with early‐stage endometriosis and controls in the present study.…”

Section: Discussionsupporting

confidence: 94%

“…To date, only three studies have investigated the associations between the TGFB1 −509C/T polymorphism and advanced endometriosis 15–17 . Hsieh et al 15 .…”

Section: Discussionmentioning

confidence: 99%

“…The human TGFB1 gene is located on chromosome 19q13.1–13.3 14 . Among the polymorphisms found in the TGFB1 gene, the −509C/T polymorphism in the promoter region has been so far the only polymorphism studied with regard to its association with advanced‐stage endometriosis; however, the results have been inconsistent 15–17 . The 868T/C, 913G/C, and 979G/A polymorphisms in exon 1 of the TGFB1 gene are located at positions 29, 74, and 140 of the translational sequence of TGFB1 and result in amino acid changes at positions 10 (Leu10Pro), 25 (Arg25 Pro), and 47 (Glu47Gly).…”

Section: Introductionmentioning

confidence: 99%

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Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

Lee

Kim

et al. 2011

American Journal of Reproductive Immunology

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Section: Discussionsupporting

confidence: 94%

“…To date, only three studies have investigated the associations between the TGFB1 −509C/T polymorphism and advanced endometriosis 15–17 . Hsieh et al 15 .…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

Lee

Kim

et al. 2011

American Journal of Reproductive Immunology

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“…Regarding a study in Hungary with healthy individuals (Rovo et al, 2010), a population with different ethnic characteristics from the Brazilian one, the absence of a difference can be explained by the small sample number (N = 30), which probably was not representative of the Hungarian population. Differences relative to Korean individuals (Kim et al, 2010), in turn, demonstrate the low influence of this ethnicity in the formation of the Brazilian population.…”

Section: Discussionmentioning

confidence: 94%

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

Torres¹,

Junior²,

Silva³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphisms -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-α and TGF-β1 production, respectively. Changes in the cytokine balance are important risk factors for clinical events; consequently, we examined the frequencies of these polymorphisms in 240 Brazilian sickle cell anemia patients from southeast Brazil. PCR-RFLP was used to detect these polymorphisms. The -509C/T (TGFB1) polymorphism was more frequent than -308G/A (TNFA), with allelic frequency of 0.3 for the mutant allele T (TGFB) agaist 0.1 for the mutant TNFA and TGFB polymorphism frequencies allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia.

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“…6C). 345 Of the six relevant studies for transforming growth factor beta (TGFB1), four were considered 348 in this meta-analysis, i.e., three CAT1 studies and one CAT2 study (Hsieh, Chang, Tsai, Peng, et al 2005;Kim et al 2010;Lee et al 2011;.…”

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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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Analysis of the transforming growth factor β1 gene −509 C/T polymorphism in patients with advanced-stage endometriosis

Cited by 13 publications

References 24 publications

Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

Polymorphisms and endometriosis: a systematic review and meta-analyses

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