Association analysis of methylation-related genes TET1 and NSD1 with non-syndromic orofacial clefts
10.3760/cma.j.cn112144-20250418-00143
- VernacularTitle:甲基化相关基因TET1和NSD1与非综合征型口面裂的关联分析
- Author:
Sixuan JIA
1
;
Yue YOU
1
;
Bing SHI
1
;
Zhonglin JIA
1
Author Information
1. 四川大学华西口腔医院唇腭裂外科 口腔疾病防治全国重点实验室 国家口腔医学中心 国家口腔疾病临床医学研究中心，成都 610041
- Publication Type:Journal Article
- Keywords:
Methylation;
Non-syndromic orofacial clefts;
Association analyses;
Tet methylcytosine dioxygenase 1;
Nuclear receptor binding SET domain protein 1
- From:
Chinese Journal of Stomatology
2025;60(9):980-986
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To preliminarily investigate the role of methylation in the epigenetic regulation of the pathogenesis of non-syndromic orofacial clefts (NSOC), and to address the gaps in previous explorations of susceptibility genes associated with NSOC.Methods:We conducted an association analysis of single nucleotide polymorphisms (SNPs) and genes related to methylation using data from a large-scale genome-wide association study involving Han Chinese patients with non-syndromic orofacial clefts and healthy controls.Results:A significant association was found between NSOC and the DNA methylation gene TET1, as well as the histone methylation gene NSD1. Specifically, the minor allele G of rs3733875 significantly increased the risk of non-syndromic cleft lip with or without palate (NSCLP) ( P=1.18×10 -4, OR=1.292), while the minor allele C of rs10998379 elevated the risk of non-syndromic cleft palate only (NSCPO) ( P=7.29×10 -5, OR=1.268); conversely, the minor allele T of rs4558056 was identified as a protective factor for NSCL/P ( P=1.17×10 -4, OR=0.792). Conclusions:This study revealed that the DNA methylation gene TET1 and the histone methylation gene NSD1 are associated with NSOC. The pathogenesis of NSOC involves interactions among multiple factors, including genetic, environmental, and epigenetic determinants, among which methylation modifications represent a crucial component.
