{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:29:33Z","timestamp":1740169773511,"version":"3.37.3"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T00:00:00Z","timestamp":1529452800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004032","name":"Jilin University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004032","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2018,6,20]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>. Hypospadias is a common congenital malformation of the male external genitalia. Most cases have an unknown etiology, which is probably a mix of monogenic and multifactorial forms, implicating both genetic and environmental factors. Ryanodine receptor 1 (<jats:italic>RYR1<\/jats:italic>) mutations are a common cause of congenital diseases associated with both dominant and recessive inheritance in humans. Herein, we evaluated the correlations of<jats:italic> RYR1<\/jats:italic> C6487T polymorphism with the risk and severity of hypospadias.<jats:italic> Methods<\/jats:italic>. 263 congenital hypospadias children and 312 healthy children were recruited. The polymorphism of<jats:italic> RYR1 <\/jats:italic>C6487T in the peripheral blood was detected by polymerase chain reaction-restriction fragment length polymorphism, and different genotypes and allelic genes were analyzed to explore their associations with the risk of congenital hypospadias.<jats:italic> Results<\/jats:italic>. The distribution frequencies of CC\/CT\/TT genotypes and two alleles (C and T) at<jats:italic> RYR1 <\/jats:italic>C6487T showed significant differences between the case and control groups (<jats:italic>P <\/jats:italic>&lt; 0.05). The frequency of C allele in the case and control groups was 46.95% and 54.94%, respectively, and of T allele was 53.05% and 45.06% (<jats:italic>P <\/jats:italic>&lt; 0.05). In addition, the distribution frequency of CC\/CT\/TT genotypes exhibited significant difference between patients with mild hypospadias and those with moderate or severe hypospadias (all<jats:italic> P <\/jats:italic>&gt; 0.05), suggesting that<jats:italic> RYR1 <\/jats:italic>C6487T polymorphism is correlated with the severity of congenital hypospadias (X<jats:sup>2<\/jats:sup> = 13.722,<jats:italic> P <\/jats:italic>= 0.001).<jats:italic> Conclusion<\/jats:italic>. Our study demonstrated that<jats:italic> RYR1 <\/jats:italic>C6487T polymorphism might be associated with an increased risk of congenital hypospadias in Chinese Han children. Our findings highlight the heterogeneous nature of hypospadias genetic susceptibility.<\/jats:p>","DOI":"10.1155\/2018\/7397839","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T19:34:41Z","timestamp":1529523281000},"page":"1-7","source":"Crossref","is-referenced-by-count":2,"title":["Genetic Polymorphism in the<i> RYR1<\/i> C6487T Is Associated with Severity of Hypospadias in Chinese Han Children"],"prefix":"10.1155","volume":"2018","author":[{"given":"Haiyan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Gastrointestinal Surgery, China-Japan Union Hospital of Jilin University, Changchun 130033, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Urology, China-Japan Union Hospital of Jilin University, Changchun 130033, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0348-7814","authenticated-orcid":true,"given":"Linpei","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Xuanwu Hospital of Capital Medical University, Beijing 100053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Jilin Provincial People\u2019s Hospital, Changchun 130000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0485-4981","authenticated-orcid":true,"given":"Hai","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology, China-Japan Union Hospital of Jilin University, Changchun 130033, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/453039"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.4103\/0189-6725.150977"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dms002"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22854"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2009.08772.x"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0511"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2011.02.043"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2013.05.061"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/nature14063"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.197186"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0238"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6817-7"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912126106"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/des087"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2011.08.031"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2012.04.007"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-015-3686-z"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1111\/and.12125"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R112.349068"},{"key":"20","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1085\/jgp.201010523","volume":"137","year":"2011","journal-title":"The Journal of General Physiology"},{"issue":"1","key":"21","volume":"3","year":"2013","journal-title":"Skeletal Muscle"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2006.01558.x"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1007\/s10528-007-9127-5"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0b013e3181cbd815"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/aep204"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2014.11.087"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0316"},{"key":"29","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/BF03349170","volume":"29","year":"2006","journal-title":"Journal of Endocrinological Investigation"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2018\/7397839.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2018\/7397839.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2018\/7397839.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T19:34:46Z","timestamp":1529523286000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/bmri\/2018\/7397839\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,20]]},"references-count":29,"alternative-id":["7397839","7397839"],"URL":"https:\/\/doi.org\/10.1155\/2018\/7397839","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"type":"print","value":"2314-6133"},{"type":"electronic","value":"2314-6141"}],"subject":[],"published":{"date-parts":[[2018,6,20]]}}}