Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population

Single ‐nucleotide polymorphisms (SNPs) in protein‐coding regions of genes which were previously reported to be associated with nonsyndromic cleft lip, with or without palate involvement (NSCL/P), were investigated. Twelve candidate loci [platelet‐derived growth factor C (PDGFC), platelet ‐derived growth factor subunit A (PDGFA), platelet ‐derived growth factor receptor alpha (PDGFRA), glycine receptor alpha 2 (GLRA2), glycine receptor beta (GLRB), ATP binding cassette subfamily A member 4 (ABCA4), MAF bZIP transcription factor B (MAFB), interferon regulatory factor 6 (IRF6), CCDC26 long non ‐coding RNA (CCDC26), paired box 7 (PAX7), ventral anterior homeobox 1 (VAX1), and netrin 1 (NTN1)] covering 1.5  Mbp were sequenced in 136 NSCL/P patients and 54 healthy controls. Twenty‐five genomic variants identified were further validated in another 400 NSCL/P and 200 controls. Two SNPs inIRF6 showed a protective effect against the development of NSCL/P (rs12405750, OR  = 0.54, 95% CI: 0.41–0.69; and rs2235371, OR = 0.55, 95% CI: 0.43–0.71). The missense variant, rs2235371, alters the conserved amino acid valine to isoleucine at codon 274 (V274I). We observed that SNPs atIRF6 (rs2235371 and rs12405750) andGLRB (rs73856838 and rs72685584) show consistent interaction effects. The association between the missense SNP rs2235371 in geneIRF6 and NSCL/P suggests that this SNP may play an important role as a risk factor for NSCL/P in the Han Chinese populations. The ma...
Source: European Journal of Oral Sciences - Category: Dentistry Authors: Tags: Original Article Source Type: research