Association of SNP rs1867277 in FOXE1 Gene and Cleft Lip with or without Cleft Palate in a Han Chinese Population

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 (P_m = 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.

KEYWORDS:

• association study
• cleft lip with or without cleft palate
• family based
• FOXE1

Acknowledgments

The authors are grateful to the people who participated in this research. This work was supported by Grant 81072375 from the National Natural Science Foundation of China and by Grant 2007CB511905 from the National Basic Research Program of China.

Disclosure of conflict of interest

The authors report no conflicts of interest.

Additional information

Funding

National Natural Science Foundation of China (81072375). National Basic Research Program of China (2007CB511905).