{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:23:52Z","timestamp":1745468632588,"version":"3.40.4"},"reference-count":24,"publisher":"S. Karger AG","issue":"11-12","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Urol Int"],"published-print":{"date-parts":[[2021]]},"abstract":"<b><i>Purpose:<\/i><\/b> GATA binding protein 4 (GATA4) has been implicated in the etiology of congenital malformation of the urogenital system. The present study investigated the influence of <i>GATA4<\/i> polymorphisms on susceptibility to hypospadias. <b><i>Methods:<\/i><\/b> We genotyped 4 potentially functional polymorphisms (rs12458, rs12825, rs884662, and rs904018) in <i>GATA4<\/i> in the hospital-based case-control study including 410 child patients and 520 nonmalformed individuals by the TaqMan MGB method. Risk associations were assessed using unconditional logistic regression, adjusted for potential confounding factors. <b><i>Results:<\/i><\/b> A significant association was found between rs12458 (3\u2032-UTR of <i>GATA4<\/i>) and susceptibility to hypospadias (<i>p<\/i> = 0.008). Compared with rs12458 AA genotype individuals, those harboring the variant allele (rs12458 AT\/TT) were correlated with significantly higher risk of hypospadias (AT\/TT vs. AA: OR = 1.42, 95% CI = 1.17\u20132.35, <i>p<\/i> = 0.036). Furthermore, the rs12458T allele showed significantly decreased activity in a luciferase reporter assay, indicating a possible role of rs12458 variant in regulating the combination of microRNAs with the <i>GATA4<\/i> mRNA. <b><i>Conclusions:<\/i><\/b> The present results indicate that the functional <i>GATA4<\/i> rs12458 variant confers individuals\u2019 susceptibility to hypospadias, possibly through regulating the <i>GATA4<\/i> expression level. <\/jats:p>","DOI":"10.1159\/000518644","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T21:06:24Z","timestamp":1632171984000},"page":"1018-1023","source":"Crossref","is-referenced-by-count":3,"title":["Association of a GATA Binding Protein 4 Polymorphism with the Risk of Hypospadias in the Chinese Children"],"prefix":"10.1159","volume":"105","author":[{"given":"Jiawei","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhai","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiwu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guowei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengyin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,9,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2015.12.002"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20673"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0446"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.01.006"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R000029200"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.14.2665"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/me.2007-0513"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024117"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000485909"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000348882"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.2047-2927.2013.00165.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.48"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.4103\/0250-474x.174988"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.rec.2016.03.004"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000497062"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000503887"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159\/000504146"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159\/000504947"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21641"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/mend.15.9.0692"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.19.4627"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.4103\/aja.aja_20_18"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2013.04.002"}],"container-title":["Urologia Internationalis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518644","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518644","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:17:48Z","timestamp":1745421468000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000518644"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":24,"journal-issue":{"issue":"11-12","published-online":{"date-parts":[[2021,10,29]]},"published-print":{"date-parts":[[2021,10,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000518644","archive":["Portico"],"relation":{},"ISSN":["0042-1138","1423-0399"],"issn-type":[{"type":"print","value":"0042-1138"},{"type":"electronic","value":"1423-0399"}],"subject":[],"published":{"date-parts":[[2021]]}}}