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

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 = 0.01

SUBMITTER: Lin Y 

PROVIDER: S-EPMC6949737 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature