Targeted sequencing reveals KLF4 gene associated with NSCL/P in Western Han Chinese

Yansong Lin; Jiayu Shi; Bing Shi; Zhonglin Jia

Targeted sequencing reveals KLF4 gene associated with NSCL/P in Western Han Chinese

Int J Clin Exp Pathol. 2019 Oct 1;12(10):3894-3900. eCollection 2019.

Authors

Yansong Lin¹, Jiayu Shi², Bing Shi¹, Zhonglin Jia¹

Affiliations

¹ State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University Chengdu, Sichuan, China.
² Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California Los Angeles, USA.

PMID: 31933779
PMCID: PMC6949737

Abstract

Objective: Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common congenital birth defects affected by both gene and environmental modifiers. Recent studies revealed that KLF4 played an important role during craniofacial development. This study aimed to evaluate the association between KLF4 gene variations and NSCL/P in a Western Han Chinese population.

Methods: In this study, 159 unrelated cases with NSCL/P were recruited. We used targeted region sequencing around KLF4 gene, and single variation association analysis and gene-based burden analysis were then performed.

Results: 116 SNPs and 30 indels were found. Burden analysis showed no statistical significance. Association analysis results showed rs6477574 (P = 0.014 and OR = 1.58), rs112488950 (P = 0.0024 and OR = 1.98) and rs111357138 (P = 0.0025 and OR = 1.96) were associated with NSCL/P.

Conclusions: The results revealed that KLF4 variations were associated with NSCL/P in a Western Han Chinese population, providing a new reference for future genetic study of NSCL/P.

Keywords: KLF4; Non-syndromic cleft lip with or without palate; association analysis.