Association of JARID 2 polymorphisms with non‐syndromic orofacial clefts in northern Chinese Han population

Objectives Non‐syndromic orofacial clefts ( NSOC ) are the most common human craniofacial malformation in all worldwide populations. Recently, the jumoji AT ‐rich interaction domain 2 ( JARID 2 ) had been reported to be a novel candidate gene for non‐syndromic cleft lip with or without cleft palate ( CL /P). The SNP s rs2076056, rs2237138 and rs2299043 in JARID 2 were highly significant in Italian families. Material and Methods In the current research, a case–control study was conducted to examine the association between these three SNP s and NSOC in a northern Chinese Han population. Genotyping of the three SNP s were performed using SN aPshot minisequencing technique. Results Distribution of rs2237138 genotypes in CL /P group was different from those in the control group ( P  = 0.04), but significant results did not persist after Benjamini and Hochberg false discovery rate ( FDR ) correction for multiple tests. Further logistic regression analysis showed that rs2237138 GG genotypes were associated with decreased CL /P susceptibility ( OR  = 0.34, 95% CI  = 0.13–0.84), compared with the AA wild‐type homozygote. For the haplotype CGT , a statistically difference was identified between the CL /P group and controls ( P  = 0.04). And carriers of GAT haplotype were considered to be less frequent among cleft palate only group as compared to controls ( P  = 0.02). However, both of the haplotypes association did not remain statistically significant after Benjamini and Hochberg FDR correction. Conclusion We got a weak association between these polymorphisms and NSOC in both single‐marker and haplotype analyses. Our data further strengthen the conclusion that JARID 2 polymorphisms are associated with NSOC susceptibility.