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A large-scale, genome-wide association study (GWAS) in the Chinese population recently identified several genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSCL\/P). We selected 16 significant SNPs from the GWAS I stage (<jats:italic>P\u2009<\/jats:italic>&lt;\u20091.00E-5) that had not been replicated to validate their association with NSCL\/P in 1931 NSCL\/P cases and 2258 controls. Ultimately, we identified a NSCL\/P susceptibility loci (<jats:italic>rs17095681<\/jats:italic> at 10q25.3, intron of <jats:italic>SHTN1<\/jats:italic> and 27.2\u2009kb downstream of <jats:italic>VAX<\/jats:italic>1, <jats:italic>P<\/jats:italic><jats:sub>meta<\/jats:sub>\u2009=\u20093.80E-9, OR\u2009=\u20090.64) in Chinese Han and Hui populations. This locus was not high LD with the reported loci in 10q25.3. It was a newly identified independent locus in 10q25.3 associated with NSCL\/P. These results imply that <jats:italic>SHTIN1<\/jats:italic> may involve in the pathogenesis of NSCL\/P advance our understanding of the genetic susceptibility to NSCL\/P.<\/jats:p>","DOI":"10.1038\/srep38872","type":"journal-article","created":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T20:59:22Z","timestamp":1482613162000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Validation of a genome-wide association study implied that SHTIN1 may involve in the pathogenesis of NSCL\/P in Chinese population"],"prefix":"10.1038","volume":"6","author":[{"given":"Yirui","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yimin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongqing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongchu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aihua","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefei","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feifei","family":"Lan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayu","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongwei","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbing","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinxue","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,12,23]]},"reference":[{"key":"BFsrep38872_CR1","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/nrg2933","volume":"12","author":"MJ Dixon","year":"2011","unstructured":"Dixon, M. 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