Association of EPHA3 gene polymorphism and folic acid with the occurrence of non-syndromic cleft lip with or without cleft palate
10.3760/cma.j.issn.1009-4598.2019.01.015
- VernacularTitle: EPHA3基因多态性及叶酸与非综合征性唇腭裂发生的关系
- Author:
Siyuan GUO
1
;
Erling DUAN
;
Jing GUO
;
Zuo ZHOU
;
Renji CHEN
Author Information
1. Department of Oral and Maxillofacial Plastic and Traumatic Surgery, School of Stomatology, Capital Medical University, Beijing 100050, China
- Publication Type:Journal Article
- Keywords:
Gene;
Folic acid;
Non-syndromic cleft of lip with or without palate
- From:
Chinese Journal of Plastic Surgery
2019;35(1):64-67
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the mutual effect of EPHA3 gene polymorphism, folic acid intake in early pregnancy, and the occurrence of non-syndromic cleft lip with or without cleft palate, so as to provide the oretical basis for a etiological study on non-syndromic cleft lip with or without cleft palate.
Methods:A total of 195 patients and 170 controls were included.The candidate site rs7650466 was genotyped by Snapshot technique.The correlation with folic acid intake in early pregnancy was analyzed.
Result:The rs7650466 T allele was highly associated with the pathogenesis of non-syndromic cleft lip with or without cleft palate(OR=0.2472, 95%CI=0.1567-0.3899, P=1.851×10-9). The T allele had protective effects.Folic acid intake in early pregnancy, and its interaction with EPHA3 gene, were associated with the pathogenesis of this disease(P<0.05).
Conclusions:EPHA3 gene, folic acid intake during the first trimester, and theinteractionsare associated with the pathogenesis of non-syndromic cleft lip with or without cleft palate.
