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Fetal and Pediatric Pathology Volume 37, 2018 - Issue 2
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Original Articles

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

Liang XieDepartment of Pediatric Respiration, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;The Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaView further author information
,
Ying DengKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China;Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, ChinaView further author information
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Yumei YuanHengyang Maternity and Child Healthcare Hospital, Hengyang, Hunan, ChinaView further author information
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Xiong TanHengyang Maternity and Child Healthcare Hospital, Hengyang, Hunan, ChinaView further author information
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Lijun LiuThe Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaView further author information
,
Nana LiKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China;Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, ChinaView further author information
,
Changfei DengKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, ChinaView further author information
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Hanmin LiuDepartment of Pediatric Respiration, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;The Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaView further author information
&
Li DaiThe Vascular Remodeling and Developmental Defects Research Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China;National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China;Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, ChinaCorrespondence[email protected]
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Pages 89-94 | Received 05 Nov 2017, Accepted 22 Dec 2017, Published online: 06 Mar 2018
 
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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.

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).

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