Tagging polymorphisms in CTLA4 gene with esophageal squamous cell carcinomas: a case-control study

Abstract

Abstract Objective: To assess the role of Cytotoxic T-lymphocyte antigen-4 (CTLA4) loci on ESCC risk. Method: we recruited 829 ESCC cases and 1,522 healthy controls to explore the correlation of tagging polymorphisms in CTLA4gene with ESCC extensively. Results: For rs16840252 C>T, rs733618 T>C, rs3087243 G>A, and rs231775 G>A loci in CTLA4, frequency of these genotypes in ESCC cases and controls was not different in overall comparison. Compared with rs3087243 GG in CTLA4, we found that there were significant differences in frequency of the rs3087243 GA and rs3087243 GA/AA between ESCC cases and controls in female subgroup (GA vs. GG: adjusted OR=1.50, P=0.038; GA/AA vs. GG: adjusted OR=1.54, P=0.024). CTLA4 haplotype analysis suggested that others haplotypes could increase the risk of ESCC with 2.05-fold (P=0.027). However, we found that locus in CTLA4 was not associated with the susceptibility of lymph node metastasis. Conclusion: Our investigation highlights that CTLA4 rs3087243 locus is associated with ESCC development in female subgroup.