Association of JARID2 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 ( JARID2) had been reported to be a novel candidate gene for non-syndromic cleft lip with or without cleft palate ( CL/P). The SNPs rs2076056, rs2237138 and rs2299043 in JARID2 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 SNPs and NSOC in a northern Chinese Han population. Genotyping of the three SNPs were performed using SNaPshot 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 JARID2 polymorphisms are associated with NSOC susceptibility. [ABSTRACT FROM AUTHOR]