Conclusion : Our results confirmed the involvement of the IRF6 variants rs642961and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population.
In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes.