Análise do polimorfismo no códon 72 do gene TP53 em mulheres inférteis com e sem endometriose

Bianco, Bianca; Christofolini, Denise Maria; Brandes, Ariel; Lerner, Tatiana Goberstein; Gonçalves-Filho, Rubens Paulo; Souza, Angela Mara Bentes de; Barbosa, Caio Parente

doi:10.1590/s0100-72032011000100006

Cited by 14 publications

(4 citation statements)

References 21 publications

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“…(2006) associated the Pro72 allele with recurrent implantation failure and demonstrated that the Pro72 allele is enriched in women with unexplained infertility from an in vitro fertilization clinic, compared with a fertile control population (Kang et al , 2009). In Brazil, Ribeiro Junior et al (2009) associated the Pro72 allele with intense pain in a cohort of endometriotic patients and Bianco et al . (2011) considered that the Pro72Arg polymorphism was not a risk factor for infertility or endometriosis in Brazilian infertile patients.…”

Section: Single Nucleotide Polymorphisms and Infertilitymentioning

confidence: 91%

The TP53 fertility network

et al. 2012

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The TP53 gene, first described in 1979, was identified as a tumor suppressor gene in 1989, when it became clear that its product, the p53 nuclear phosphoprotein, was frequently inactivated in many different forms of cancers. Nicknamed “guardian of the genome”, TP53 occupies a central node in stress response networks. The p53 protein has a key role as transcription factor in limiting oncogenesis through several growth suppressive functions, such as initiating apoptosis, senescence, or cell cycle arrest. The p53 protein is directly inactivated in about 50% of all tumors as a result of somatic gene mutations or deletions, and over 80% of tumors demonstrate dysfunctional p53 signaling. Beyond the undeniable importance of p53 as a tumor suppressor, an increasing number of new functions for p53 have been reported, including its ability to regulate energy metabolism, to control autophagy, and to participate in various aspects of differentiation and development. Recently, studies on genetic variations in TP53 among different populations have led to the notion that the p53 protein might play an important role in regulating fertility. This review summarizes current knowledge on the basic functions of different genes of the TP53 family and TP53 pathway with respect to fertility. We also provide original analyses based on genomic and genotype databases, providing further insights into the possible roles of the TP53 pathway in human reproduction.

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Section: Single Nucleotide Polymorphisms and Infertilitymentioning

confidence: 91%

The TP53 fertility network

et al. 2012

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“…This result is in line with previous meta-analyses (Feng et al 2015;Lao, Chen, and Qin 2016;Yan et al 2015) that included many more studies than we did (i.e., 15, 11 and 15, respectively, compared with seven in our meta-analysis). We excluded these studies because they did not meet our inclusion criteria for the control participants (Ammendola et al 2008;Camargo-Kosugi et al 2014;Govatati et al 2012;Omori et al 2004;Paskulin et al 2012;Ying et al 2011), lacked raw data (Rotman et al 2013) or were not published in English (Bianco et al 2011;Huang et al 2013). Previous meta-analyses have suggested an association between the TP53 rs1042522 polymorphism and endometriosis risk in Asian populations, in particular.…”

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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“…Com esta abordagem, foi encontrada uma frequência estaticamente maior do alelo P72 do gene TP53 em mães de gêmeos quando comparada com mães de não-gêmeos 35 . O produto deste gene é um importante supressor tumoral que está envolvido em uma ampla variedade de processos biológicos, como desenvolvimento, imunidade, envelhecimento, câncer e a reprodução [35][36][37][38][39] . Especificamente no campo da fertilidade, foi demonstrado que o papel regulador do gene TP53 é importante tanto no processo de implantação do blastocisto na parede uterina quanto após, de modo que as chances de uma concepção gemelar suceder-se a termo podem ser aumentadas em mulheres que carreiam o alelo P72 30 .…”

Section: Hipóteses Estratégias Científicas E Principais Resultadosunclassified

Decifrando o mistério dos gêmeos : vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul

et al. 2019

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Cândido Godói (CG) é um pequeno município brasileiro localizado no noroeste do Rio Grande do Sul e é conhecido como "Cidade dos Gêmeos" devido à alta taxa de nascimentos gemelares na região. Diante de um fato tão notável, muitas explicações foram sugeridas. Entre estas teorias, a que mais recebeu atenção da mídia, mesmo sem base científica, foi a de que a gemelaridade seria fruto de experimentos de um médico nazista alemão foragido após a Segunda Guerra Mundial. A convite da própria comunidade de CG, nosso grupo de pesquisa trabalha para resolver este mistério desde 1994, analisando diferentes fatores possivelmente relacionados, em especial suas características genéticas. Aqui, nós sumarizamos os principais resultados obtidos em mais de duas décadas de pesquisa, com foco nas particularidades do processo de comunicação dos resultados, aspectos éticos e como os achados científicos naquela comunidade contribuem não apenas com a resolução de um mistério histórico e local, mas também com o estudo de outras questões, como a reprodução humana e as bases biológicas da gemelaridade.

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Análise do polimorfismo no códon 72 do gene TP53 em mulheres inférteis com e sem endometriose

Abstract: the results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis and/or infertility in the Brazilian population, not even the severe form of the disease.

Cited by 14 publications

References 21 publications

The TP53 fertility network

The TP53 fertility network

Polymorphisms and endometriosis: a systematic review and meta-analyses

Decifrando o mistério dos gêmeos : vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul

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