[Relationship between genetic polymorphisms of RFC1 A80G and nonsymdromic cleft lip with or without palate]

To explore the relationship between genetic polymorphisms of reduced folate carrier (RFC)1 A80G and nonsymdromic cleft lip with or without palate on Chinese population.

There were 97 NSCL/P case-parent triads those were selected as case group. At the same period, 104 healthy subjects were selected together with their biological parents as control group. For all subjects the polymorphisms of RFC1 A80G were examined by PCR-RFLP method.

There was no statistical difference in genotype and gene frequencies for RFC1 A80G variants among family members between case group and control group in offsprings and fathers and mothers (P < 0.05). The odds ratio (OR), confidence interval (CI) and P value of offspring, father and mother genotype (AG) were 0.87 (0.44-1.70), 0.657; 1.09 (0.54-2.21), 0.788; 1.63 (0.79-3.36), 0.152 respectively. The OR, CI and P value of offspring, father and mother allele (GG) were 0.48 (0.19-1.23), 0.094; 0.93 (0.38-2.23), 0.850; 1.30 (0.46-3.67), 0.584 respectively. The OR, CI and P value of offspring, father and mother allele (G) were 1.22 (0.78-1.94), 0.386; 1.02 (0.64-1.61), 0.945; 0.91 (0.58-1.41), 0.660. The G allele could not increase the risk of NSCL/P. But in the transmission disequilibrium test (TDT) analysis, the transmission of the G allele was 40 times, the A allele was 71 times, the A allele was more likely to transmit to the sicken offspring (chi-2 = 8.658, P < 0.05). Results of haplotype-based haplotype relative risk (HHRR) analysis (chi-2 = 10.31, P < 0.05) and family-based association tests (FBAT) ( Z = 2.942, P < 0.05) were showed that there was an association between RFC1 A80G variant and the risk of NSCL/P.

The statistical analysis of nuclear family could evidence of linkage in the presence of disequilibrium, there was an association between RFC1 A80G variant and the risk of NSCL/P, and the A allele could have an association with the dominant high-risk of NSCL/P.