{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:35:08Z","timestamp":1780918508825,"version":"3.54.1"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,3,11]],"date-time":"2016-03-11T00:00:00Z","timestamp":1457654400000},"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":"publisher","award":["2010\u20100007857"],"award-info":[{"award-number":["2010\u20100007857"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","award":["2009\u20100093822"],"award-info":[{"award-number":["2009\u20100093822"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002701","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NRF\u20102013R1A1A2008335"],"award-info":[{"award-number":["NRF\u20102013R1A1A2008335"]}],"id":[{"id":"10.13039\/501100002701","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogastroenterology Motil"],"published-print":{"date-parts":[[2016,7]]},"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 bowel disease caused by the absence of nerve cells in portions of the intestine. Our recent genome\u2010wide association study has identified a variant (<jats:italic>rs1254900<\/jats:italic>) of <jats:italic>vesicle\u2010associated membrane protein 5<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>5<\/jats:italic>) as a potential risk locus for total colonic aganglionosis (<jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content>) in <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>. In addition, <jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>5 is a member of the <jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>\/synaptobrevin protein complex, which participates in nerve signal transduction by regulating the vesicular fusion of the neurotransmitter in synaptic transmission.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 11 single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s), including those in the functionally important coding region, were selected on the basis of linkage disequilibrium and genotyped in 187 HSCR patients and 283 unaffected controls by using a TaqMan assay. Logistic analysis was conducted to investigate the possible association between <jats:italic><jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>5 <\/jats:italic><jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s and the risk of <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Key Results<\/jats:title><jats:p>Genetic variants of <jats:italic><jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>5<\/jats:italic> showed increased association signals in the <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content> subgroup of <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content> patients (minimum <jats:italic>p<\/jats:italic> = 9.69 \u00d7 10<jats:sup>\u22125<\/jats:sup>, <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> = 3.93 at <jats:italic>rs10206961<\/jats:italic>) compared to other subgroups, even after Bonferroni correction (<jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub> = 0.002). In haplotype analysis, three haplotypes (<jats:italic><jats:styled-content style=\"fixed-case\">BL<\/jats:styled-content>1<\/jats:italic>_<jats:italic>ht1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">BL<\/jats:styled-content>2<\/jats:italic>_<jats:italic>ht1<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">BL<\/jats:styled-content>2<\/jats:italic>_<jats:italic>ht2<\/jats:italic>) were associated with the risk of <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content> (minimum <jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub> = 0.005). In additional combined analysis after imputation based on our previous <jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content>, five <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s still retained significant associations with the <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content> subtype (minimum <jats:italic>p<\/jats:italic><jats:sub><jats:italic>corr<\/jats:italic><\/jats:sub> = 0.006 at <jats:italic>rs10206961<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions &amp; Inferences<\/jats:title><jats:p>Considering that differential genetic effects on the development of the enteric nervous system, our results suggest that <jats:italic><jats:styled-content style=\"fixed-case\">VAMP<\/jats:styled-content>5<\/jats:italic> may be associated with the <jats:styled-content style=\"fixed-case\">TCA<\/jats:styled-content> of <jats:styled-content style=\"fixed-case\">HSCR<\/jats:styled-content>. However, further replications and functional evaluations are required.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nmo.12807","type":"journal-article","created":{"date-parts":[[2016,3,12]],"date-time":"2016-03-12T19:59:49Z","timestamp":1457812789000},"page":"1055-1063","source":"Crossref","is-referenced-by-count":5,"title":["Potential association of <i><scp>VAMP<\/scp>5<\/i> polymorphisms with total colonic aganglionosis in Hirschsprung disease"],"prefix":"10.1111","volume":"28","author":[{"given":"J.\u2010G.","family":"Shin","sequence":"first","affiliation":[{"name":"Department of Life Science Sogang University Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.\u2010W.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.\u2010Y.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. 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