Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism

Autor: Xianzhuo Han, Xueyan Xiong, Xiujuan Shi, Fengshan Chen, Yongming Li
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Head & Face Medicine, Vol 17, Iss 1, Pp 1-13 (2021)
Druh dokumentu: article
ISSN: 1746-160X
DOI: 10.1186/s13005-021-00268-0
Popis: Abstract 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
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