Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population.

OBJECTIVES

Non-syndromic orofacial clefts (NSOC) are the most common developmental disorders in human beings. Recently, two genome-wide association studies in European Caucasians identified three novel NSOC susceptibility loci: rs987525 on 8q24, rs7078160 on 10q25.3, and rs223371 on 17q22. The aim of this study was to determine the association of these polymorphisms with NSOC susceptibility and its subgroups in a Chinese Han population.

MATERIAL AND METHODS

In this study, 199 NSOC patients and 210 healthy individuals were recruited. SNP rs987525 was not genotyped because of its low frequency in the study subjects. The other two polymorphisms (rs7078160 and rs223371) were respectively genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Taqman-MGB assay.

RESULTS

Overall genotype distributions of rs7078160 and rs223371 polymorphisms were consistent with Hardy-Weinberg equilibrium test. The allele and genotype frequencies of the two polymorphisms were not significantly different between cases and controls. Further analysis indicated that none of the genotypes was associated with increased risk of NSOC. Similar results were also found when all cleft cases were stratified by cleft types.

CONCLUSION

Our findings are consistent with a lack of involvement of the rs7078160 and rs223371 polymorphisms in the development of NSOC in the Chinese Han population.