Abstract:

Objective  To investigate the association between rs142167, rs7216231 single nucleotide polymorphism（SNP） in Wnt3 and nonsyndromic cleft lip and palate（NSCL/P） in Hui and Han population of Ningxia Autonomous Region. Methods  The study consisted of 371 NSCL/P patients from Ningxia Hui and Han population（Han population 166, Hui population 205）, their parents（196 fathers, 224 mothers, 150 trios） and 258 normal controls（Han population 190, Hui population 68）. Polymerase chain reaction-restriction fragment length polymorphisms（PCR-RFLP） was used to identify rs142167, rs7216231 genotypes of the samples. The data was analyzed by case-control analysis, transmission disequilibrium test（TDT） and family based associated test（FBAT）. Results  Case-control study showed that no differences in cleft lip, cleft palate, cleft lip and palate, and the total case group compared with the control group at rs142167 and rs7216231（P＞0.05） in Hui and Han population and in stratified comparison. TDT test showed that rs142167 and rs7216231’s allele had not over-transmitted（P＞0.05） in NSCL/P. FBAT test showed that G-G specific haplotypes showed statistically significant（P<0.05）. Conclusion  Wnt3 gene polymorphism is not relevant with NSCL/P in Ningxia Hui and Han population.

Key words: nonsyndromic cleft lip with or without cleft palate, Wnt3, single nucleotide polymorphism