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

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

Fetal Pediatr Pathol

b 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.

Published: April 2018

AI Article Synopsis

  • - The study aimed to investigate the link between specific genetic variants (SNPs) in the FOXE1 gene and the occurrence of cleft lip with or without cleft palate (CL ± P).
  • - A total of 128 children with CL ± P and their parents participated, and two genotyping methods were used to analyze the SNPs, revealing a significant association for the SNP rs1867277 with CL ± P (P = 0.0395).
  • - Despite finding a significant link for the overall group, no such associations were observed when analyzing subgroups of patients, indicating the need for further research.

Article 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 = 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.

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2018.1424278DOI Listing

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