Aim: To study the contribution of genetic variation in RAD51 to risk of esophageal squamous cell carcinoma(ESCC).
Methods: Three single nucleotide polymorphisms (SNPs) in RAD51 (rs1801320, rs4144242 andrs4417527) were genotyped in 316 ESCC patients and 316 healthy controls in Anyang area of China using PCRRFLP(polymerase chain reaction-restriction fragment length polymorphism). Demographic variables betweencases and controls were statistically compared by T test and Chi-square test. Hardy-Weinberg equilibrium wasevaluated by the Chi-square test. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated tomeasure any association with ESCC. Haplotype frequencies were estimated by Phase 2.1.
Result: The genotypefrequencies of rs1801320, rs4144242 and rs4417527 in patients with ESCC demonstrated no significant differencesfrom those in control group (P>0.05). When the haplotypes of these three SNPs were constructed and theirrelationships with ESCC risk investigated, however, CGG was observed to increase the risk (P=0.020, OR=2.289).
Conclusions: There was no association between the three SNPs of RAD51 and ESCC susceptibility in ourChinese population. However, the CGG haplotype might be a risk factor.