{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T04:14:06Z","timestamp":1758946446187,"version":"3.37.3"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"crossref","award":["2010-0007857","2009-0093822"],"award-info":[{"award-number":["2010-0007857","2009-0093822"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Education","award":["NRF-2013R1A1A2008335"],"award-info":[{"award-number":["NRF-2013R1A1A2008335"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogastroenterology Motil"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hirschsprung disease (<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>) is a congenital and heterogeneous disorder characterized by the absence of enteric ganglia during enteric nervous system (<jats:styled-content style=\"fixed-case\">ENS<\/jats:styled-content>) development. Our recent genome\u2010wide association study has identified a variant (rs6509940) of <jats:italic>interleukin\u201011<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201011<\/jats:italic>) as a potential susceptible locus for <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>. As interleukins play important roles in the <jats:styled-content style=\"fixed-case\">ENS<\/jats:styled-content>, we further studied associations with <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> of nine common single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) on <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201011<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Biopsy specimens or surgical materials from all patients that were tested for histological examination based on the absence of the enteric ganglia were collected. A total of nine <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s on <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201011<\/jats:italic> were genotyped in 187 <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> patients and 283 unaffected controls using TaqMan genotyping assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Key Results<\/jats:title><jats:p>Combined analysis revealed that several <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s (minimum <jats:italic>p<\/jats:italic>\u00a0=\u00a01.57\u00a0\u00d7\u00a010<jats:sup>\u22127<\/jats:sup>) showed statistically significant associations with <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>, even after Bonferroni correction (<jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub>\u00a0=\u00a01.73\u00a0\u00d7\u00a010<jats:sup>\u22126<\/jats:sup> for the <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>). Moreover, the most common haplotype was strongly associated with <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> (<jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub>\u00a0=\u00a02.20\u00a0\u00d7\u00a010<jats:sup>\u22126<\/jats:sup>). In further analysis among three <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> subtypes (short segment, S\u2010<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>; long segment, L\u2010<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>; total colonic aganglionosis, <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content>) based on the extent of aganglionic segment, the result showed a different association pattern depending on the subtypes (minimum <jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub>\u00a0=\u00a06.12\u00a0\u00d7\u00a010<jats:sup>\u22125<\/jats:sup> for rs6509940 in S\u2010<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>; but no significant <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> in L\u2010<jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions &amp; Inferences<\/jats:title><jats:p>Although further replication in a larger cohort and functional evaluations are needed, our findings suggest that genetic variations of <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201011<\/jats:italic> may be associated with the risk of <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> and\/or the mechanisms related to <jats:styled-content style=\"fixed-case\">ENS<\/jats:styled-content> development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nmo.12629","type":"journal-article","created":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T17:45:39Z","timestamp":1436895939000},"page":"1371-1377","source":"Crossref","is-referenced-by-count":7,"title":["Genetic variants of <i><scp>IL<\/scp>\u201011<\/i> associated with risk of Hirschsprung disease"],"prefix":"10.1111","volume":"27","author":[{"given":"L. H.","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Life Science Sogang University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. S.","family":"Cheong","sequence":"additional","affiliation":[{"name":"Department of Genetic Epidemiology SNP Genetics, Inc. Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010G.","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Life Science Sogang University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010M.","family":"Seo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Surgery Department of Surgery Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.\u2010Y.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Asan Medical Center University of Ulsan College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010T.","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Severance Children's Hospital Yonsei University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010Y.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Seoul National University Children's Hospital Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Surgery Seoul National University Bundang Hospital Seongnam Gyeonggi Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Physiology College of Medicine Hanyang University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010H.","family":"Kim","sequence":"additional","affiliation":[{"name":"Research Institute for Basic Science Sogang University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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