Abstract
BACKGROUND: Esophageal cancer (EC) is an important disease that threatens public health and safety. Although there are numerous treatment options for esophageal cancer including surgery, radiation therapy, and chemotherapy, these treatments have limited effects. Its morbidity and mortality vary widely among countries and regions. Esophageal cancer is classified into squamous cell carcinoma (ESCC) and esopheageal adenocarcinoma (EADC). Here, we examined the genetic susceptibility to ESCC in relation to functional single nucleotide polymorphisms (SNPs) in the long non-coding RNA (lncRNA) CASC8. METHODS: To detect the susceptibility to ESCC in relation to functional polymorphisms in CASC8, a hypothesis-driven study was performed to identify CASC8 SNPs in 949 patients with ESCC and 1369 control subjects. RESULTS: The CASC8 rs1562430 GG genotype was significantly associated with increased ESCC risk in men, patients younger than 63 years, non-smokers, and nondrinkers. CONCLUSIONS: CASC8 rs1562430 A > G may cause susceptibility to ESCC and CASC8 SNPs may play a vital role in ESCC risk, thereby serving as a potential biomarker for diagnosing ESCC. A larger sample size and multifactor information are needed to confirm these results.