Objectives: Accumulating evidence has implicated DNA methylation in the development of non-syndromic cleft palate only (NSCPO); however, little is known about the underlying epigenetic mechanism. This study was to elucidate the role of SATB2 5'untranslated region (UTR) promoter methylation in formation of NSCPO. Methods: DNA methylation profiling was performed on discarded human palatal tissue after repair of NSCPO (case) or maxillofacial and palate trauma (control), using an Illumina 850K-EPIC BeadChip methylation array. The SATB2 5'UTR promoter methylation level was confirmed by pyrosequencing. Results: Five CpG sites (cg14273610, cg22334352, cg25103650, cg22845542 and cg06199336) in the SATB2 5'UTR promoter was hypermethylated in cases compared with controls (P<0.05). Pyrosequencing revealed a mean methylation rate of 31.81% vs. 16.45% (p=0.0019) at the cg14273610 CpG site, 22.12% vs. 9.28% (p=0.0102) at the cg22334352 CpG site, 24.41% vs. 8.74% (p=0.0003) at the cg25103650 CpG site, 51.66% vs. 23.97%(p=0.0165) at the cg22845542 CpG site and 31.05% vs. 16.43% (p=0.0091) at the cg06199336 CpG site for cases and controls, respectively. The pyrosequencing results were consistent with those from the Illumina 850K-EPIC methylation BeadChip array. Conclusion: Our results suggested that the SATB2 may be responsible for NSCPO formation and could be a potential biomarker for NSCPO. Keywords: 5'UTR, methylation, non-syndromic cleft palate only, SATB2
Corresponding Author: Lihong Peng