1. Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
2. Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan
3. School of Medicine, Chung Shan Medical University, Taichung, Taiwan
4. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan
5. Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan
6. Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan
This study aimed to explore the involvement of carbonic anhydrase 9 (CA9) single nucleotide polymorphisms (SNPs) in the development of invasive cancer of uterine cervix for Taiwanese women. Ninety-seven patients with cervical invasive squamous cell carcinoma and 88 with preinvasive squamous cell lesions as well as 324 control women were recruited. Two CA9 SNPs in exons, including rs2071676 (+201, G/A) in exon 1 and rs3829078 (+1081, A/G) in exon 7, rs1048638 (+1584, C/A) in 3′-untranslated region of exon 11, as well as an 18-base pair deletion/insertion (376deltion393) in exon 1 were selected and their genotypic distributions were determined by real-time polymerase chain reaction. Haplotype was then constructed with rs2071676, 376del393, rs3829078 and rs1048638 in order. The results revealed that Taiwanese women with genotypes CA or CA/AA in CA9 SNP rs1048638 displayed a more risk in developing cervical invasive cancer, assigning wild genotype CC as a reference. AA in SNP rs2071676 tended to increase the risk of developing cervical invasive cancer, using GG/GA as a reference. When women had the diplotypes, carrying at least one haplotype A1AA (one mutant allele A in rs2071676, no deletion in 376del393, no mutant allele A in rs3829078 and one mutant allele A in rs1048638), they were significantly susceptible to cervical invasive cancer. In conclusion, CA9 SNP rs1048638 and haplotype A1AA are associated with the susceptibility of cervical invasive squamous cell carcinoma for Taiwanese women.
Keywords: carbonic anhydrase 9, single nucleotide polymorphism, haplotype, invasive squamous cell carcinoma of uterine cervix