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The associations of common and rare variants with MP, cephalometric parameters, and continuous cephalometric phenotypes were analyzed by principal component (PC) analysis. The associations between rare variants and MP were tested for each gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Six SNPs, including rs415929, rs520688, and rs423023 in an exonic region of <jats:italic>NOTCH4<\/jats:italic>; rs1044006 in an exonic region of <jats:italic>NOTCH3;<\/jats:italic> rs1051415 in an exonic region of <jats:italic>JAG1<\/jats:italic>; and rs75236173 in the 3\u2032-untranslated region (3\u2032-UTR) of <jats:italic>NUMB<\/jats:italic> were associated with MP (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05). One common variant, rs1051415, in an exonic region of <jats:italic>JAG1<\/jats:italic> was significantly related to PC1 (<jats:italic>P<\/jats:italic>\u200a\u2009=\u20093.608\u2009\u00d7\u200910<jats:sup>\u2212\u20094<\/jats:sup>), which explained 24.3% of the overall phenotypic variation observed and corresponded to the sagittal mandibular position towards the maxilla, ranging from a posterior positioned mandible to an anterior positioned mandible. Additionally, 41 other variants were associated with PC1\u20135 (<jats:italic>P<\/jats:italic>\u200a\u2009&lt;\u2009\u200a0.05). With respect to rare variant analysis, variants within the <jats:italic>EP300<\/jats:italic>, <jats:italic>NCOR2<\/jats:italic>, and <jats:italic>PSEN2<\/jats:italic> gene showed an association with MP (<jats:italic>t<\/jats:italic>\u200a\u200a\u2009&lt;\u20090\u200a.05).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>An association between <jats:italic>NOTCH<\/jats:italic> signaling pathway genes and MP has been identified.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13005-021-00268-0","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T06:02:34Z","timestamp":1622008954000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism"],"prefix":"10.1186","volume":"17","author":[{"given":"Xianzhuo","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyan","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiujuan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengshan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,26]]},"reference":[{"issue":"5","key":"268_CR1","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1002\/(SICI)1098-2353(1999)12:5<382::AID-CA9>3.0.CO;2-0","volume":"12","author":"GD Singh","year":"1999","unstructured":"Singh GD. 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