Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility

<!-- Brazil - Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-MKLVK7B5B6'); .articleTxt{ top: -16px; } .scielo__border-top{ border-top: 1px solid #ccc !important; } @media (max-width: 575.98px) { .articleCtt > .container{ padding-left: 0; padding-right: 0; } .articleCtt .articleTxt{ padding-left: 16px !important; padding-right: 16px !important; } } @media (min-width: 768px){ .scielo__truncate{ display: block; max-width: 285px; } } Menu Brazil Journal list by title Journal list by subject area Search Metrics (abre em nova aba) Sobre o SciELO Brazil Contacts Report error SciELO.org - The SciELO Network (abre em nova aba) National and thematic collections (abre em nova aba) Journal list by title (abre em nova aba) Journal list by subject (abre em nova aba) Search (abre em nova aba) Metrics (abre em nova aba) OAI and RSS (abre em nova aba) About the SciELO Network (abre em nova aba) Contacts (abre em nova aba) Blog SciELO in Perspective (abre em nova aba) (function () { const details = document.getElementById('scieloMainMenu'); if (!details) return; const summary = document.getElementById('scieloMainMenuSummary'); if (!summary) return; document.addEventListener('click', function (event) { if (!details.contains(event.target) && details.open) { details.open = false; } }); document.addEventListener('keydown', function (event) { if (event.key === 'Escape' && details.open) { details.open = false; summary.focus(); } }); })(); Brazil language en English Português Español Genetics and Molecular Biology Mostrar opções launch Submission of manuscripts info About the journal help_outline Política editorial people Editorial Board help_outline Instructions to authors email Contact show_chart Metrics home Table of contents navigate_before previous current next navigate_next Text (EN) Text (English) PDF Download PDF (English) article Conteúdo: Text (EN) Text (English) Download PDF (English) (abre em nova aba) share Whatsapp BlueSky Mastodon Facebook Mais home Table of contents share Whatsapp BlueSky Mastodon Facebook Mais Text (EN) Text (English) PDF Download PDF (English) (abre em nova aba) Human and Medical Genetics • Genet. Mol. Biol. 27 (2) • 2004 • https://doi.org/10.1590/S1415-47572004000200006 link copy Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility Authorship SCIMAGO INSTITUTIONS RANKINGS Abstract Insulin-like growth factor II (IGF2) has been shown to play a role in abnormal cell growth and carcinogenesis. We investigated if the IGF2 gene Apa I polymorphism at exon 9 was associated with the susceptibility to endometriosis, analyzing 120 women with moderate/severe endometriosis and 103 controls. The genotype frequencies did not differ statistically between the endometriosis (aa = 25.4, ab = 57.4, bb = 17.2%) and control (aa = 20.8 ab = 52.8, bb = 26.4%) groups. The allele frequencies did not differ either: a = 54.1, b = 45.9% among women with endometriosis and a = 47.2, b = 52.8% in the control group. Therefore, no indication was found for an association of this polymorphism with endometriosis susceptibility. endometriosis; insulin-like growth factor; IGF-2 HUMAN AND MEDICAL GENETICS SHORT COMMUNICATION Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility Yao-Yuan Hsieh I ; Chi-Chen Chang I ; Fuu-Jen Tsai II ; Ching-Tien Peng II ; Lian-Shun Yeh I ; Cheng-Chieh Lin III I China Medical University Hospital, Department of Obstetrics and Gynecology, Taichung, Taiwan II China Medical University Hospital, Department of Pediatrics and Medical Genetics, Taichung, Taiwan III China Medical University Hospital, Department of Family Medicine, Taichung, Taiwan Correspondence ABSTRACT Insulin-like growth factor II (IGF2) has been shown to play a role in abnormal cell growth and carcinogenesis. We investigated if the IGF2 gene Apa I polymorphism at exon 9 was associated with the susceptibility to endometriosis, analyzing 120 women with moderate/severe endometriosis and 103 controls. The genotype frequencies did not differ statistically between the endometriosis (aa = 25.4, ab = 57.4, bb = 17.2%) and control (aa = 20.8 ab = 52.8, bb = 26.4%) groups. The allele frequencies did not differ either: a = 54.1, b = 45.9% among women with endometriosis and a = 47.2, b = 52.8% in the control group. Therefore, no indication was found for an association of this polymorphism with endometriosis susceptibility. Key words: endometriosis, insulin-like growth factor, IGF-2 . Endometriosis is associated with a complex interaction of immuno-inflammatory processes, cytokine activation, and genetic factors. Endometrial cells synthesize cytokines and growth factors, modulating endometrial proliferation and differentiation (Loverro et al. , 1999). Insulin-like growth factor-I (IGF-I) and their receptors were reported to be abnormally expressed in ovarian endometriosis, and may play a role in the pathogenesis of endometriosis. (Loverro et al. , 2001). Insulin-like growth factor II (IGF-II) is a 67-amino acid mitogenic peptide, which may act as an autocrine or paracrine growth factor, enhancing and maintaining tumor growth (El-Badry et al. , 1991; Kim et al. , 1998). In fact, several tumors have been shown to oversecrete IGF-II, e.g. uterine leiomyosarcoma (Vu et al. , 1995), ovarian cancer (Yun et al. , 1996), endometrial cancer (Roy et al. , 2000), cervical cancer (Douc-Rasy et al. , 1996), breast carcinoma (Wu et al. , 1997), and testicular tumors (Nonomura et al. , 1997). Heterozygosity for IGF2 Apa I polymorphism at exon 9 was found to be lower in patients with uterine leyomyosarcoma than in heathy subjects (Vu et al. , 1995). As IGF2 gene is involved in cell growth and differentiation, we investigated whether the ApaI polymorphism (A/G) at exon 9 of this gene was associated with the disease, predicting susceptibility to endometriosis. A group of 122 pre-menopausal Taiwan Chinese women with surgically diagnosed moderate/severe endometriosis was studied. .The control group was formed by 106 women whose non-endometriosis status was confirmed during cesarean sections or diagnostic laparoscopy. All surgeries were performed by two of us (Hsieh YY, Chang CC). Informed consent was provided by the patients, and the study was approved by the Ethical Committee of the China Medical University Hospital. The two groups of women did not differ statistically for age (32.2 ± 2.6 vs. 33.4 ± 3.5 years), weight (51.5 ± 3.8 vs. 53.2 ± 4.3 kg) and height (158.2 ± 4.6 vs. 156.4 ± 3.6 cm). Genomic DNA was isolated from peripheral blood using Genomaker DNA Extractor kit (Blossom, Taiwan). About 50 ng of genomic DNA was mixed with 20 pmol of each PCR primer in a total volume of 25 mL containing 10 mM Tris-HCl, pH 8.3, 50 mM KCl, 2.0 mM MgCl 2 , 0.2 mM each deoxyribonucleotide triphosphate, and 1 unit of Amplitaq DNA polymerase (Perkin Elmer Applied Biosystems, Foster City, CA, USA). For the Apa I (A/G) polymorphism analysis (Tadokoro et al. , 1991), IGF2 exon 9 was amplified using the primers: upstream, 5'CTTGGA CTTTGAGTCAAATTGGC3' and downstream, 5'GCG GTACGAGCGACGTGCCCAC3'. PCR conditions were as follows: 35 cycles at 95 °C for 20 s, 60 °C for 20 s, and 72 °C for 20 s. Complete Apa I digestion (1 unit Apa I in 10 mL buffer for 30 min at 37 °C) yielded a single fragment of 100 bp for the “a” allele (not digested by Apa I) or two digestion fragments of 63 and 37 bp for the “b” allele. PCR products were analyzed by electrophoresis on 3% agarose gel followed by ethidium bromide staining. Genotype and allele frequencies in the two groups were compared by c 2 test. Genotype and allele frequencies of the IGF2 Apa I polymorphism are shown in Table 1 . The frequencies of aa, ab and bb genotypes did not differ significantly between women with or without endometriosis, and the allele frequencies were not significantly different either. The observed genotype frequencies in both groups did not deviate significantly from Hardy-Weinberg equilibrium proportions. As previously reported by Chen et al. (2003), the frequency of both alleles was found to be high in our population, and about half of the individuals were heterozygous. Thumbnail In conclusion, our investigation did not detect an association between the IGF2 gene Apa I polymorphism and endometriosis in our population. editor Associado: Ângela M. Vianna-Morgante Received: November 14, 2001; Accepted: December 18, 2003. References Chen WC, Chen HY, Wu HC, Wu MC, Hsu CD and Tsai FJ (2003) Vascular endothelial growth factor gene polymorphism is associated with calcium oxalate stone disease. Urol Res 31:218-22. Douc-Rasy S, Barrois M, Fogel S, Ahomadegbe JC, Stehelin D, Coll J and Riou G (1996) High incidence of loss of heterozygosity and abnormal imprinting of H19 and IGF2 genes in invasive cervical carcinomas. Uncoupling of H19 and IGF2 expression and biallelic hypomethylation of H19 Oncogene 12:423-30. El-Badry OM, Helman LJ, Chatten J, Steinberg SM, Evans AE and Israel MA (1991) Insulin-like growth factor II-mediated proliferation of human neuroblastoma. J Clin Invest 87:648-57. Kim HT, Choi BH, Niikawa N, Lee TS and Chang SI (1998) Frequent loss of imprinting of the H19 and IGF-II genes in ovarian tumors. Am J Med Genet 80:391-5. Loverro G, Maiorano E, Napoli A, Selvaggi L, Marra E and Perlino E (2001) Transforming growth factor-beta 1 and insulin-like growth factor-1 expression in ovarian endometriotic cysts: a preliminary study. Int J Mol Med 7:423-9. Loverro G, Perlino E, Maiorano E, Cormio G, Ricco R, Marra E, Nappi L, Giannini T and Selvaggi L (1999) TGF-beta 1 and IGF-1 expression in atrophic post-menopausal endometrium. Maturitas 31:179-84. Nonomura N, Miki T, Nishimura K, Kanno N, Kojima Y and Okuyama A (1997) Altered imprinting of the H19 and insulin-like growth factor II genes in testicular tumors. J Urol 157:1977-9. Roy RN, Gerulath AH, Cecutti A and Bhavnani BR (2000) Loss of IGF-II imprinting in endometrial tumors: overexpression in carcinosarcoma. Cancer Lett 153:67-73. Tadokoro K, Fujii H, Inoue T and Yamada M (1991) Polymerase chain reaction (PCR) for detection of Apa I polymorphism at the insulin like growth factor II gene ( IGF2 ). Nucleic Acids Res 19:6967. Vu TH, Yballe C, Boonyanit S and Hoffman AR (1995) Insulin-like growth factor II in uterine smooth-muscle tumors: maintenance of genomic imprinting in leiomyomata and loss of imprinting in leiomyosarcomata. J Clin Endocrinol Metab 80:1670-6. Wu HK, Squire JA, Catzavelos CG and Weksberg R (1997) Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas. Biochem Biophys Res Commun 235:123-9. Yun K, Fukumoto M and Jinno Y (1996) Monoallelic expression of the insulin-like growth factor-2 gene in ovarian cancer. Am J Pathol 148:1081-7. Correspondence to Fuu-Jen Tsai M.D., Ph.D. China Medical University Hospital, Department of Pediatrics and Medical Genetics, n. 2 Yuh-Der Road Taichung, Taiwan E-mail: [email protected] or [email protected] . Publication Dates Publication in this collection 20 July 2004 Date of issue 2004 History Accepted 18 Dec 2003 Received 14 Nov 2001 This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. Authorship .author-card { border-bottom: 1px solid #ccc; padding: 1rem 0; } .author-card:last-child { border-bottom: 0px; } .author-name { font-weight: 600; } .orcid-button { padding-left: 2.5rem; } .modal-body { padding-bottom: 3rem; } .orcid-button::before { content: ""; position: absolute; background-image: url(https://ds.scielo.org/img/logo-orcid.svg); background-repeat: no-repeat; background-size: 1.5em auto; background-position: .5em center; display: block; width: 60px; height: 60px; top: -10px; left: 0; } person Yao-Yuan Hsieh school China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan person Chi-Chen Chang school China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan person Fuu-Jen Tsai school China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan person Ching-Tien Peng school China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan person Lian-Shun Yeh school China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan person Cheng-Chieh Lin school China Medical University, Department of Family Medicine , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Family Medicine , Taichung, , Taiwan SCIMAGO INSTITUTIONS RANKINGS China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Pediatrics and Medical Genetics , Taichung, , Taiwan China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Obstetrics and Gynecology , Taichung, , Taiwan China Medical University, Department of Family Medicine , Taichung, , Taiwan China Medical University Taiwan Taichung, , Taiwan China Medical University, Department of Family Medicine , Taichung, , Taiwan Tables Tables (1) Thumbnail table_chart How to cite link copy function currentDate() { var today = new Date(); var months = ['January', 'February', 'March', 'April', 'May', 'June', 'July', 'August', 'September', 'October', 'November', 'December'] today.setTime(today.getTime()); return today.getDate() + " " + months[today.getMonth()] + " " + today.getFullYear(); } var citation = 'Hsieh, Yao-Yuan et al. Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility. Genetics and Molecular Biology [online]. 2004, v. 27, n. 2 [Accessed CURRENTDATE], pp. 165-166. Available from: . Epub 20 July 2004. ISSN 1678-4685. https://doi.org/10.1590/S1415-47572004000200006.'.replace('CURRENTDATE', currentDate()); document.getElementById('citation').innerHTML = citation; document.getElementById('citationCut').value = citation.replace('<', ' "); more_horiz Ferramentas do artigo file_download PDFs show_chart Metrics image Figuras e tabelas translate Versions and translations link How to cite this article article Related articles location_on Sociedade Brasileira de Genética Rua Cap. Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP Brazil, Tel.: (55 16) 3911-4130 / Fax.: (55 16) 3621-3552 - Ribeirão Preto - SP - Brazil E-mail: [email protected] rss_feed Stay informed of issues for this journal through your RSS reader PDF version for download PDF English Related articles Lista de links para artigos relacionados. Os links abrem em nova aba. Google (abre em nova aba) Google Scholar (abre em nova aba) Versões e tradução automática Escolha a versão original do texto ou utilize um serviço de tradução automática. Versão original do texto English Tradução automática Google Translator (abre serviço externo de tradução) Microsoft Translator (abre serviço externo de tradução) pre { display: block; padding: 9.5px; margin: 0 0 10px; font-size: 11px; line-height: 1; word-break: break-all; word-wrap: break-word; background-color: #f5f5f5; border: 1px solid #ccc; border-radius: 4px; white-space: pre-wrap; word-break: break-word; } Como citar Escolha um formato para exportar ou selecione um estilo de citação. O conteúdo abaixo pode ser atualizado após a seleção. Baixar em RIS Baixar em BIBTEX Outros formatos de citação e exportação: Enter references manager format or citation style (e.g., "APA", "AMA", "MLA", "Vancouver") vertical_align_top Go to top // Mostrar o botão ao rolar const btnTop = document.getElementById("btnTop"); window.addEventListener("scroll", () => { if (window.scrollY > 200) { btnTop.style.display = "block"; } else { btnTop.style.display = "none"; } }); // Rolar suavemente até o topo ao clicar btnTop.addEventListener("click", () => { window.scrollTo({ top: 0, behavior: "smooth" }); }); .scielo__logo-partner{ max-height: 50px; max-width: 170px; } .scielo__logo-partner--dark{ display:none; } .scielo__theme--dark .scielo__logo-partner--light{ display:none; } .scielo__theme--dark .scielo__logo-partner--dark{ display:inline-block; } Brazil Rua Dr. Diogo de Faria, 1087 – 9º andar – Vila Clementino 04037-003 São Paulo/SP - Brasil E-mail: [email protected] Read our Open Access Statement Metrics SciELO Analytics Dimensions Altmetric Scite_ Insulin-like growth factor II gene Apa I polymorphism is not associated with endometriosis susceptibility PlumX × Close Message × Close Message Report error // Variáveis para tradução da barra de acessibilidade window.accessibilityTranslations = { darkMode: "Dark mode", increaseText: "Increase text", decreaseText: "Decrease text", originalText: "Original text", markerLine: "Marker", readingLine: "Guide line", reset: "Reset", accessibilityMenu: "Accessibility menu", skipLinkText: "Ir para o conteúdo principal" }; $(document).ready(function() { // Add rows article search let addRowBtn = $('.addRowBtn'); let placeRow = $('.scielo__dinamic-row'); let newFormRow = ' clear AND OR AND NOT All indexes Year Author Funder Journal Abstract Title '; let btnRemoveRow = $('.btn-danger'); addRowBtn.on( "click", function() { placeRow.append( newFormRow ); }) // Remove as linhas inseridas dinamicamente e as que já estavam lá. placeRow.on( "click", ".btn-danger", function() { $(this).parent().parent().animate({'opacity':0},300).hide(1); }) }); <!-- var insertScript = function(url, callback, parentNode) { var scriptNode = document.createElement("script"); scriptNode.src = url; scriptNode.onload = callback; parentNode.appendChild(scriptNode) } var headNode = document.getElementsByTagName("head")[0]; setTimeout(MathJax.Callback([insertScript, "//badge.dimensions.ai/badge.js", console.log, headNode]), 1500); --> affiliations = {}; function add_scimago_image(selector, remove_br=true, add_br_after=true, find_div=false){ $(selector).each( function () { if (remove_br){ $(this).find("br").remove() } internal_items = find_div ? $(this).find('div').not(".clearfix") : $(this).not(".clearfix") internal_items.each(function () { self = $(this); affiliation_name = $('span:first', self).text(); if (affiliation_name){ scimago_link = ' '; self.append(scimago_link); } }); if (add_br_after){ $(this).after(" ") } }); } add_scimago_image('#ModalScimago .info div') add_scimago_image('.tutors', remove_br=false, add_br_after=false, find_div=true) $(".scimago_link").click(function(e){ e.preventDefault(); affiliation_name = $(this).data("affiliation"); if (affiliation_name){ if (affiliations[affiliation_name]) { window.open(affiliations[affiliation_name], '_blank'); } else { $.ajax({ type: "GET", async: false, url: "/scimago/query", data: 'q=' + encodeURI(affiliation_name), success: function (data) { if (data) { affiliations[affiliation_name] = 'https://www.scimagoir.com/' + data window.open(affiliations[affiliation_name], '_blank'); }else{ toastr.options = { positionClass: 'toast-top-center' }; toastr.error('Link temporariamente indisponível'); } } }); } } }); var howcite_initialized = false; $('#ModalHowcite').on('shown.bs.modal', function () { if (!howcite_initialized) { initial = { "American Psychological Association": "apa", "Vancouver": "vancouver" } $.each(initial, function (key, value) { $.ajax({ url: "/citation/c6hzSnGVhPBrnWgFpDYVCXv/?style=" + value, dataType: 'html', delay: 250, async: true }) .done(function (html) { $(" " + key + " " + " " + html + " ").insertBefore($("#select_label")); }) }); howcite_initialized = true; } $(".js-data-example-ajax").select2({ ajax: { url: "/citation/list", dataType: 'json', delay: 250, data: function (params) { return { q: params.term, // search term }; }, processResults: function (data, params) { return { results: data.results }; }, cache: true }, escapeMarkup: function (markup) { return markup; }, minimumInputLength: 1, dropdownParent: $('#ModalHowcite') }); $(document).on('select2:open', () => { document.querySelector('.select2-search__field').focus(); }); $(".js-data-example-ajax").on('select2:select', function (e) { var data = e.params.data; $.ajax({ url: "/citation/c6hzSnGVhPBrnWgFpDYVCXv/?style=" + data.id, dataType: 'html', delay: 250 }) .done(function (html) { if ($('#citation_text').css('display') == 'none') { $('#citation_text').show() } $("#citation_text").html(html); }) .fail(function () { alert("Erro ao tentar obter esse estilo de citação"); }) }); }); // Garante que o valor do campo share_url é a URL corrente. $('#share_url').val(window.location.href); //moment.locale('en'); //$("#date").text(moment().format("L HH:mm:ss ZZ"));