PROGINS receptor gene polymorphism is associated with endometriosis

Wieser, Friedrich; Schneeberger, Christian; Tong, Dan; Tempfer, Clemens; Huber, Johannes; Wenzl, René

doi:10.1016/s0015-0282(01)02984-3

Cited by 108 publications

(90 citation statements)

References 20 publications

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“…There is increased oestrogen receptor (ER-a) expression in active (red lesions) compared with inactive (black lesions) endometriosis (Matsuzaki et al 2001b). iii) Inherited genetic polymorphisms in oestrogen and progesterone receptors (PRs), which predispose to endometriosis (Kitawaki et al 2001, Wieser et al 2002. iv) Inherited genetic polymorphisms in drug-metabolising enzymes (CYP1A1, CYP19 and GSTM1) which predispose to endometriosis (Baranova et al 1999, Hadfield et al 2001, Nakago et al 2001, Arvanitis et al 2003 and ovarian endometrioid and clear-cell cancers (Baxter et al 2001).…”

Section: Self-sufficiency In Growth Signalsmentioning

confidence: 99%

Endometriosis and the neoplastic process

Varma¹,

Rollason²,

Gupta³

et al. 2004

Reproduction

184

146

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Endometriosis is a frequent disorder that commonly presents with infertility and pelvic pain. Although the precise aetiology of endometriosis is unclear, it is generally considered to involve multiple genetic, environmental, immunological, angiogenic and endocrine processes. Genetic factors have been implicated in endometriosis but the susceptibility genes remain largely unknown. Although endometriosis is a benign disorder, recent studies of endometriosis suggest endometriosis could be viewed as a neoplastic process. Evidence to support this hypothesis includes the increased susceptibility to develop ovarian clear-cell and endometrioid cancers in the presence of endometriosis, and molecular similarities between endometriosis and cancer. In this article we discuss (i) the evidence suggesting that endometriosis might be viewed as a neoplastic process, and (ii) the implications of this hypothesis for elucidating the pathogenesis of endometriosis and developing novel methods of diagnostic classification and individualised treatments.

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Section: Self-sufficiency In Growth Signalsmentioning

confidence: 99%

Endometriosis and the neoplastic process

Varma¹,

Rollason²,

Gupta³

et al. 2004

Reproduction

184

146

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“…Alelos mutantes desse gene foram descritos recentemente, destacandose o polimorfismo PROGINS, que consiste em uma inserção da família Alu de 306 pares de base (pb) no íntron G, entre os éxons 7 e 8 -região codificante do domínio de ligação hormonal. Essa inserção levaria à transcrição anômala do gene, codificando uma forma variante do éxon 8 10,11 . A codificação de um éxon alternativo, por sua vez, resultaria em perda da capacidade de ligação do hormônio ao receptor e da sua subseqüente ativação, com queda da atividade final mediada pela progesterona 12 .…”

Section: Métodosunclassified

“…Nas reações de amplificação do gene do RP foram utilizados os seguintes primers -senso: 5' GGC AGA AAG CAA AAT AAA AAG A 3', anti-senso: 5' AAA GTA TTT TCT TGC TAA ATG TC 3' 11,19 . Foi utilizado 1 µL do DNA total em um volume final de 25 µL de reação, contendo 1 µL de cada primer (0,4 pmol/µL) e 22 µL de mix Promega (20 mM de TrisHCl, pH 8.4, 50 mM de KCl, 5 mM de MgCl 2 , 200 µM de dNTPs e 1,25 U de Taq DNA polimerase).…”

Section: Métodosunclassified

Relação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterino

Gomes¹,

Castro²,

Villanova³

et al. 2006

Rev. Bras. Ginecol. Obstet.

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Objetivos: analisamos raça, paridade e presença do polimorfismo do gene do receptor de progesterona, denominado PROGINS, como fatores relacionados à ocorrência de leiomioma uterino em mulheres brasileiras. Métodos: realizamos estudo caso-controle, no qual foram incluídas 122 pacientes com diagnóstico de leiomioma e 125 mulheres sem a doença. Após registro dos dados clínicos, coletamos material biológico para extração de DNA, reação em cadeia da polimerase e eletroforese em gel de agarose, a fim de identificar a presença do polimorfismo PROGINS. A análise estatística foi feita pelo teste não paramétrico de Mann-Whitney ou pelo teste do χ 2 , a depender da variável estudada. O risco para ocorrência da doença foi calculado pelo modelo de regressão logística, com obtenção da odds ratio (OR) (razão de chances). O nível de significância adotado foi de 5% (p<0,05) e o intervalo de confiança foi de 95% (IC 95%). Resultados: observamos maior prevalência de "não-brancas" -pardas e negras -(50 vs 22,4%) e de nulíparas (23,8 vs 11,2%) nos casos, ao passo que o genótipo do receptor de progesterona foi mais freqüentemente PROGINS positivo -heterozigoto ou homozigoto mutante -entre os controles (21,6 vs 10,7%). A razão de chances indicou elevação do risco para leiomioma relacionada à raça "não branca" (OR=3,46; IC 95%: 2,0-6,0) e à nuliparidade (OR=3,30; IC 95%: 1,9-5,6), com redução na presença de genótipos PROGINS positivo (OR=0,43; IC 95%: 0,2-0,9). Conclusões: a raça "não branca" e a nuliparidade foram consideradas fatores de risco para a ocorrência de leiomioma uterino em mulheres da população estudada, ao passo que o polimorfismo PROGINS demonstrou ser fator protetor. PALAVRAS-CHAVE: ABSTRACTPurpose: to analyze race, parity and presence of the progesterone receptor polymorphism, named PROGINS, as factors related to uterine leiomyoma occurrence in Brazilian women. Methods: we carried out a case-control study, composed of 122 patients with the diagnosis of uterine fibroid and 125 women without the disease. After recording the clinical data, we collected biological material for DNA extraction, polymerase chain reaction and agarose gel electrophoresis in order to identify the presence of PROGINS polymorphism. Statistical analysis was performed using the non-parametric MannWhitney test or the χ 2 test, depending on the studied variable. The risk for the occurrence of the disease was calculated byRelação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterinoRelation between progesterone receptor gene polymorphism, race, parity, and uterine leiomyoma occurrence

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“…There is increasing evidence that endometriosis is inherited as a complex genetic trait, implying that multiple gene loci interact with both each other and the environment to produce the phenotype disease (Kennedy 1997). Recent genetic studies have found an association between the development of endometriosis and the polymorphisms of several genes (Cramer et al 1996;Baranova et al 1997;Watanabe et al 2001;Chang et al 2002;Wieser et al 2002;Hur et al 2005), including the genes related to estrogen metabolism (Georgiou et al 1999;Kitawaki et al 2001;Kado et al 2002).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Hur

Lee

et al. 2007

J Hum Genet

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A variety of factors affect the development of endometriosis, including hormonal status and genetic factors. The growth of endometriosis is stimulated by local estrogen production in conjunction with circulating estrogen. The CYP19 gene encodes a steroid aromatase that catalyses the conversion of C-19 androgens to estrogens. This study investigated whether polymorphisms of the CYP19 gene are associated with the risk of advanced endometriosis in Korean women. Blood samples were collected from 224 female patients with endometriosis of stages III and IV, as diagnosed by both pathologic and laparoscopic findings, and from a control group comprising of 188 women undergoing laparoscopic surgery or laparotomy for nonmalignant lesions. Single-nucleotide polymorphisms, restriction fragment length polymorphisms, and tetranucleotide tandem repeat polymorphisms were discriminated by the polymerase chain reaction (PCR). Haplotype analysis was also performed. CYP19 115T>C, 240G>A, and 1531C>T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis. The risk of endometriosis also did not increase significantly with the number of higher risk alleles of the CYP19 gene. In conclusion, our findings suggest that CYP19 genetic polymorphisms are not associated with advanced-stage endometriosis in Korean women.

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PROGINS receptor gene polymorphism is associated with endometriosis

Cited by 108 publications

References 20 publications

Endometriosis and the neoplastic process

Endometriosis and the neoplastic process

Relação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterino

Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

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