Polymorphisms in E-cadherin (CDH1) Gene Promoter and Susceptibility of Cervical Cancer

Objective：To investigate the association of two single nucleotide polymorphisms on the E-cadherin gene with the risk of cervical carcinoma. Methods：The SNP of the E-cadherin gene was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 243 cervical cancer patients and 323 unrelated healthy women. Results：The genotype and allele distributions of CDH1 -160C/A were not significantly different in the cervical cancer group compared with the control group （P>0.05）. The genotype and allele distributions of CDH1 -347G/GA were significantly different in the cervical cancer group compared with the control group (P<0.05).Compared with individuals with -347G/G genotype, individuals with GA allele (G/GA or GA/GA genotype) had significantly higher risk to develop cervical cancer with odds ratio of 2.66 (95%CI=1.48~4.80), it also has a tendency to increase the risk of HPV16, 18 type infection with odds ratio of 1.979（95%CI=0.860~4.558）The -160C/A and -347G/GA polymorphism was link disequilibrium (D′=0.793118, SD=0.0751), and -160C/-347G is the commonest haplotype in north Chinese women. Compared to -160C/-347G haplotype, -160A/-347GA haplotype and -160C/-347GA haplotype decreased susceptibility to cervical cancer, with adjusted odds ratio of 1.80, 95％CI=1.10~2.94 and 1.47,95％CI=1.10~1.96. Conclusion：Compared with individuals with -347G/G genotype, individuals with GA allele (G/GA or GA/GA genotype) has significantly higher risk to develop cervical cancer.and a tendency to increase the risk of HPV16, 18 type infection. The -160A/-347GA haplotype and -160C/-347GA haplotype increased the risk of developing cervical cancer compared with -160C/-347G haplotype.