Table 3.

Novel loci, closest gene, and contribution to craniofacial development.

Locus	Chrom. band	Groups with p < 1e-06	Nearest gene	Regulatory elements for craniofacial development and other roles in OFCs
4	2p12	ALL, CSA	SNAR-H	Evidence of methylation during craniofacial development
8	8q22.2	ALL, CSA	STK3	Transcription start site, upstream promoter and enhancer region
10	9q33.1	EUR	LINC00474	Craniofacial super-enhancer region
11	10q22.2	ALL, CSA	ZNF503	Transcription start site and promoter region
12	10q24.32	ALL, CSA	SUFU	Promoter, transcription enhancer; SUFU is involved in the Hedgehog signaling pathway
13	12q13.2	CSA	OR9K2	Craniofacial super-enhancer region; OSR2 gene 240Kb upstream codes for transcription factor shown to control palatal development Lan et al., 2004; Fu et al., 2017
17	17q25.3	AFR	RBFOX3	Craniofacial super-enhancer region; TIMP2 gene 335Kb connected to increased risk of CL/P Letra et al., 2014

Peak numbers in bold indicate novel loci, other loci showed modest association (p < 1e-04) in GWAS of Chinese (Huang et al., 2019).