{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:36:43Z","timestamp":1790797003104,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T00:00:00Z","timestamp":1632096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["NO.2016A030310250"],"award-info":[{"award-number":["NO.2016A030310250"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["NO.2018A030313570"],"award-info":[{"award-number":["NO.2018A030313570"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["NO. 2190053"],"award-info":[{"award-number":["NO. 2190053"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NO.81600400"],"award-info":[{"award-number":["NO.81600400"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NO.8177629"],"award-info":[{"award-number":["NO.8177629"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NO.81970450"],"award-info":[{"award-number":["NO.81970450"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. The known genetic variations are unable to fully explain the pathogenesis of HSCR. The \u03b1\/\u03b2\u2010hydratase domain 1 <jats:italic>(ABHD1)<\/jats:italic> interferes with the proliferation and migration of intestinal stem cells. Docking protein 6 (<jats:italic>DOK6<\/jats:italic>) is involved in neurodevelopment through <jats:italic>RET<\/jats:italic> signalling pathway. We examined the association of <jats:italic>ABHD1<\/jats:italic> and <jats:italic>DOK6<\/jats:italic>\u00a0genetic variants with HSCR using 1470 controls and 1473 HSCR patients from Southern Chinese children. The results clarified that <jats:italic>DOK6<\/jats:italic> rs12968648 G allele significantly increased HSCR susceptibility, in the allelic model (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.034; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.12, 95%CI\u00a0=\u00a01.01~1.24) and the dominant model (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.038; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.12, 95%CI\u00a0=\u00a01.01~1.25). Clinical stratification\u00a0analysis showed that rs12968648 G allele was associated with increased risk of short\u2010segment HSCR (S\u2010HSCR), in the allelic model (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.028; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.14, 95%CI\u00a0=\u00a01.01~1.28) and the additive model (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.030; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.14, 95%CI\u00a0=\u00a01.01~1.28). <jats:italic>ABHD1<\/jats:italic> rs2304678 C allele had higher risk to develop total colonic aganglionosis (TCA) in the allelic model (<jats:italic>p<\/jats:italic>\u00a0=\u00a07.04E\u201003; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.67, 95%CI\u00a0=\u00a01.15~2.43) and the dominant model (<jats:italic>p<\/jats:italic>\u00a0=\u00a04.12E\u201003; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.93, 95%CI\u00a0=\u00a01.23~3.04). <jats:italic>DOK6<\/jats:italic> rs12968648 and <jats:italic>ABHD1<\/jats:italic> rs2304678\u00a0had significant intergenic synergistic effect according to logical regression (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.0081; <jats:italic>OR<\/jats:italic>\u00a0=\u00a00.76, 95%CI\u00a0=\u00a00.63~0.93) and multifactor dimensionality reduction (MDR, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.0045; <jats:italic>OR<\/jats:italic>\u00a0=\u00a01.25, 95%CI\u00a0=\u00a01.07~1.46). This study verified two susceptible variations of HSCR on <jats:italic>ABHD1<\/jats:italic> and <jats:italic>DOK6<\/jats:italic>. Their roles in HSCR should be conducted in further studies.<\/jats:p>","DOI":"10.1111\/jcmm.16905","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T01:40:22Z","timestamp":1632188422000},"page":"9609-9616","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Association between <i>ABHD1<\/i> and <i>DOK6<\/i> polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children"],"prefix":"10.1111","volume":"25","author":[{"given":"Chaoting","family":"Lan","sequence":"first","affiliation":[{"name":"The First Affiliated Hospital of Jinan University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxin","family":"Wu","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Jinan University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7349-9699","authenticated-orcid":false,"given":"Ning","family":"Wang","sequence":"additional","affiliation":[{"name":"Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neonatology Guangzhou Baiyunshan Hospital Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinglu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4486-2318","authenticated-orcid":false,"given":"Yi","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifeng","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jixiao","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0103-1672","authenticated-orcid":false,"given":"Huimin","family":"Xia","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Jinan University Guangzhou China"},{"name":"Department of Pediatric Surgery Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou Medical University Guangzhou Guangdong 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