Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism
| Autor: | Xiujuan Shi, Yongming Li, Fengshan Chen, Xueyan Xiong, Xianzhuo Han |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Untranslated region JAG1 Cephalometry Notch signaling pathway Specialties of internal medicine Single-nucleotide polymorphism Mandible Association analysis Mandibular prognathism 03 medical and health sciences 0302 clinical medicine PSEN2 Humans Medicine EP300 General Dentistry Genetic association Genetics business.industry Research 030206 dentistry Malocclusion Angle Class III 030104 developmental biology RC581-951 Otorhinolaryngology NOTCH signaling pathway Prognathism Targeted sequencing NUMB Neurology (clinical) business Signal Transduction |
| Zdroj: | Head & Face Medicine, Vol 17, Iss 1, Pp 1-13 (2021) Head & Face Medicine |
| ISSN: | 1746-160X |
| Popis: | Introduction The purpose of this study was to systematically identify variants in NOTCH signaling pathway genes that correlate with mandibular prognathism (MP) in the general Chinese population. Methods Targeted sequencing of NOTCH signaling pathway genes was conducted in 199 MP individuals and 197 class I malocclusion control individuals. 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. Results Six SNPs, including rs415929, rs520688, and rs423023 in an exonic region of NOTCH4; rs1044006 in an exonic region of NOTCH3; rs1051415 in an exonic region of JAG1; and rs75236173 in the 3′-untranslated region (3′-UTR) of NUMB were associated with MP (P JAG1 was significantly related to PC1 (P = 3.608 × 10− 4), 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 PC1–5 (P EP300, NCOR2, and PSEN2 gene showed an association with MP (t Conclusions An association between NOTCH signaling pathway genes and MP has been identified. |
| Databáze: | OpenAIRE |
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