RESUMEN
Objective:To study the association between the rs2013162 and rs2235375 polymorphisms in IRF6 and risk of NSCL/P in west Chinese population. Methods: The study group consisted of 332 NSCL/P patients, their parents (289 mothers, 243 fathers and 206 complete families), and 174 controls. PCR-RFLP method was used to identify genotypes and both case-parent and case-control designs were carried out on samples from west China. Results: There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at the rs2235375(P<0.01, P<0.01 respectively). We found strong evidence of over-transmission of the G allele at rs2235375 in cleft case-parent trios(P<0.01). Five specific haplotypes showed significant over-and under-transmission. Conclusion: These results suggest IRF6 variants play a role in NSCL/P in west Chinese populations.