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A genome-wide association study (GWAS) and whole exome sequencing identified <jats:italic>NRG1<\/jats:italic> and <jats:italic>NRG3<\/jats:italic> as additional HSCR susceptibility loci. We investigated the effects of <jats:italic>RET<\/jats:italic> (rs2506030 and rs2435357), <jats:italic>NRG1<\/jats:italic> (rs2439302, rs16879552 and rs7835688) and <jats:italic>NRG3<\/jats:italic> (rs10748842, rs10883866 and rs6584400) polymorphisms in a Chinese population with HSCR. We assessed single nucleotide polymorphisms (SNPs) in the <jats:italic>RET, NRG1<\/jats:italic> and <jats:italic>NRG3<\/jats:italic> genes in a cohort of 362 sporadic HSCR patients and 1,448 normal controls using a TaqMan genotyping assay. Significant associations were found between HSCR risk and rs2506030, rs2435357, rs2439302 and rs7835688 (odds ratio [OR] 1.64, <jats:italic>P<\/jats:italic>\u2009=\u20091.72E-06; 2.97, <jats:italic>P<\/jats:italic>\u2009=\u20095.15E-33; 1.84, <jats:italic>P<\/jats:italic>\u2009=\u20099.36E-11; and 1.93, <jats:italic>P<\/jats:italic>\u2009=\u20091.88E-12, respectively). Two locus analyses of SNPs indicated increased disease risks of HSCR between NRG1 rs2439302 and RET rs2435357 or rs2506030. <jats:italic>RET<\/jats:italic> rs2506030 (GG genotype) and rs2435357 (TT genotype), in combination with <jats:italic>NRG1<\/jats:italic> rs2439302 (GG genotype), were strongly associated with the highest risk of HSCR (OR\u2009=\u200956.53, <jats:italic>P<\/jats:italic>\u2009=\u20094.50E-07) compared with the two loci or a single SNP of either <jats:italic>RET<\/jats:italic> or <jats:italic>NRG1<\/jats:italic>. Our results support the association between genetic variation of <jats:italic>RET<\/jats:italic> and <jats:italic>NRG1<\/jats:italic> and susceptibility to HSCR in the Chinese population.<\/jats:p>","DOI":"10.1038\/srep43222","type":"journal-article","created":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T13:15:21Z","timestamp":1488546921000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease"],"prefix":"10.1038","volume":"7","author":[{"given":"Dehua","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoqing","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shao-tao","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,3,3]]},"reference":[{"key":"BFsrep43222_CR1","doi-asserted-by":"publisher","first-page":"1503","DOI":"10.1093\/hmg\/10.14.1503","volume":"10","author":"V Cacheux","year":"2001","unstructured":"Cacheux, V. et al. 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