Association of SNP rs1867277 in FOXE1 Gene and Cleft Lip with or without Cleft Palate in a Han Chinese Population. (4th March 2018)

• Record Type: Journal Article
• Authors: Xie, Liang; Deng, Ying; Yuan, Yumei; Tan, Xiong; Liu, Lijun; Li, Nana; Deng, Changfei; Liu, Hanmin; Dai, Li
• Is Part Of: Fetal and pediatric pathology. Volume 37:Number 2(2018)
• Page Start: 89
• Page End: 94
• Publication Date: 2018-03-04
• Subjects: association study -- cleft lip with or without cleft palate -- family based -- FOXE1; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2018.1424278
• Languages: English
• ISSNs: 1551-3815

Abstract

ABSTRACT: Background: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. Objective: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. Materials and Methods: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method. The software PLINK, FBAT and FAMHAP were used for analyzing data. Results: rs1867277 was associated with CL ± P ( Pm = 0.0395). The patients were divided into two subgroups, individuals with cleft lip only and persons with cleft lip and palate. There were no associations in subgroup analyses. Conclusion: We confirmed the association of FOXE1 gene and CL ± P by a family based study. For the first time, rs1867277 was significantly associated with CL ± P.