[Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate]

Abstract

Objective: To explore the relationship between polymorphism of interferon regulatory factor 6 (IRF6) gene rs642961 locus and nonsyndromic cleft lip with or without cleft palate (NSCL ± P).

Methods: There were 88 NSCL ± P nuclear families and 116 healthy people as control recruited from Chinese northern area. The polymorphism of IRF6 rs642961 locus was detected by tetra-primer amplification refractory mutation system-polymerase chain reaction (tetra-primer ARMS-PCR). Case-control analysis, transmission-disequilibrium test (TDT), haplotype-based haplotype relative risk analysis (HHRR) and family-based association test (FBAT) were carried out.

Result: There was significant difference in rs642961 of IRF6 locus between the NSCL P group and control group, whether in children or parents (P < 0.05). The odds ratio (OR) of AG and AA versus GG is above one, and its 95% confidence interval did not include 1 in offspring, father and mother group, which meant genetic variant of rs642961 of IRF6 could increase the risk of occurrence of NSCL ± P. The allele transmission disequilibrium for rs642961 of IRF6 variant in NSCL ± P families was found by TDT analysis (P < 0.05). HHRR calculation also showed that there was association between the genetic variant and the occurrence of NSCL ± P (P < 0.05). While FBAT test showed that there was relationship between the genetic variant and the occurrence of NSCL ± P in addictive model.

Conclusion: Polymorphism IRF6 gene locus is associated with NSCL ± P in northern Chinese population.