{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T16:56:56Z","timestamp":1788541016692,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,4,14]],"date-time":"2018-04-14T00:00:00Z","timestamp":1523664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University","doi-asserted-by":"publisher","award":["YG2012MS04"],"award-info":[{"award-number":["YG2012MS04"]}],"id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["14411950405"],"award-info":[{"award-number":["14411950405"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81200259"],"award-info":[{"award-number":["81200259"]}],"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":["81630039"],"award-info":[{"award-number":["81630039"]}],"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":["81670469"],"award-info":[{"award-number":["81670469"]}],"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":[[2018,7]]},"abstract":"Abstract<\/jats:title>Hirschsprung disease (HSCR<\/jats:styled-content>) is a severe multifactorial genetic disorder. Microarray studies indicated GAL<\/jats:styled-content><\/jats:italic>, GAP<\/jats:styled-content>43<\/jats:italic> and NRSN<\/jats:styled-content>1<\/jats:italic> might contribute to the altered risk in HSCR<\/jats:styled-content>. Thus, we focused on genetic variations in GAL<\/jats:styled-content><\/jats:italic>, GAP<\/jats:styled-content>43<\/jats:italic> and NRSN<\/jats:styled-content>1<\/jats:italic>, and the gene\u2010gene interactions involved in HSCR<\/jats:styled-content> susceptibility. We recruited a strategy combining case\u2010control study and MassArray system with interaction network analysis. For GAL<\/jats:styled-content><\/jats:italic>, GAP<\/jats:styled-content>43<\/jats:italic> and NRSN<\/jats:styled-content>1<\/jats:italic>, a total of 18 polymorphisms were assessed in 104 subjects with sporadic HSCR<\/jats:styled-content> and 151 controls of Han Chinese origin. We found statistically significant differences between HSCR<\/jats:styled-content> and control groups at 5 genetic variants. For each gene, the haplotypes combining all polymorphisms were the most significant. Based on SNP<\/jats:styled-content>syn, MDR<\/jats:styled-content> and GeneMANIA<\/jats:styled-content> analyses, we observed significant gene\u2010gene interactions among GAL<\/jats:styled-content><\/jats:italic>, GAP<\/jats:styled-content>43<\/jats:italic>, NRSN<\/jats:styled-content>1<\/jats:italic> and our previous identified RELN<\/jats:styled-content><\/jats:italic>, GABRG<\/jats:styled-content>2<\/jats:italic> and PTCH<\/jats:styled-content>1<\/jats:italic>. Our study for the first time indicates that genetic variants within GAL<\/jats:styled-content><\/jats:italic>, GAP<\/jats:styled-content>43<\/jats:italic> and NRSN<\/jats:styled-content>1<\/jats:italic> and related gene\u2010gene interaction networks might be involved in the altered susceptibility to HSCR<\/jats:styled-content> in the Han Chinese population, which might shed more light on HSCR<\/jats:styled-content> pathogenesis.<\/jats:p>","DOI":"10.1111\/jcmm.13612","type":"journal-article","created":{"date-parts":[[2018,4,14]],"date-time":"2018-04-14T11:41:02Z","timestamp":1523706062000},"page":"3377-3387","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Common genetic variants in GAL<\/scp>, GAP<\/scp>43<\/i> and NRSN<\/scp>1<\/i> and interaction networks confer susceptibility to Hirschsprung disease"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0842-2446","authenticated-orcid":false,"given":"Yang","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery Xinhua Hospital School of Medicine Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition Shanghai China"},{"name":"Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihui","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Xinhua Hospital School of Medicine Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition Shanghai China"},{"name":"Shanghai Institute for Pediatric Research Shanghai 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