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The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most significant SNP rs13089920 (logistic regression <jats:italic>P<\/jats:italic>=2.15 \u00d7 10<jats:sup>\u2212120<\/jats:sup>) and 5 suggestive loci. The above 13 associated loci, harboured by candidates of <jats:italic>ROBO1<\/jats:italic>, <jats:italic>GATA3<\/jats:italic>, <jats:italic>GBX2<\/jats:italic>, <jats:italic>FGF3<\/jats:italic>, <jats:italic>NRP2<\/jats:italic>, <jats:italic>EDNRB<\/jats:italic>, <jats:italic>SHROOM3<\/jats:italic>, <jats:italic>SEMA7A<\/jats:italic>, <jats:italic>PLCD3<\/jats:italic>, <jats:italic>KLF12<\/jats:italic> and <jats:italic>EPAS1<\/jats:italic>, are found to be enriched for genes involved in neural crest cell (NCC) development and vasculogenesis. We then perform whole-genome sequencing on 21 samples from the case cohort, and identify several novel loss-of-function mutations within the associated loci. Our results provide new insights into genetic background of craniofacial microsomia.<\/jats:p>","DOI":"10.1038\/ncomms10605","type":"journal-article","created":{"date-parts":[[2016,2,8]],"date-time":"2016-02-08T10:06:39Z","timestamp":1454925999000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":67,"title":["Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia"],"prefix":"10.1038","volume":"7","author":[{"given":"Yong-Biao","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jintian","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaohao","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangchun","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiqiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingliang","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panpan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqun","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingguo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,2,8]]},"reference":[{"key":"BFncomms10605_CR1","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1055\/s-0032-1320067","volume":"26","author":"CB Birgfeld","year":"2012","unstructured":"Birgfeld, C. 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