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Targeted sequencing reveals KLF4 gene associated with NSCL/P in Western Han Chinese
Yansong Lin1, Jiayu Shi2, Bing Shi1
1State 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.
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.
