Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population. Issue 8 (1st December 2014)

• Record Type: Journal Article
• Authors: Piao, J.-M.; Shin, M.-H.; Kim, H. N.; Song, H.-R.; Kweon, S.-S.; Choi, J.-S.; Shim, H.-J.; Hwang, J.-E.; Bae, W.-K.; Kim, S.-H.; Choi, Y.-D.; Cui, L.-H.
• Is Part Of: Diseases of the esophagus. Volume 27:Issue 8(2014)
• Page Start: 798
• Page End: 801
• Publication Date: 2014-12-01
• Subjects: C20orf54 -- esophageal squamous cell carcinoma -- PLCE1 -- South Korea; Esophagus -- Diseases -- Periodicals; 616.32
• DOI: 10.1111/dote.12155
• Languages: English
• ISSNs: 1120-8694

Abstract

Summary: Two recent genome-wide association studies have identified that the rs2274223 single-nucleotide polymorphism inphospholipase C epsilon 1 and the single-nucleotide polymorphism rs13042395 in C20orf54 are involved in esophageal squamous cell carcinoma (ESCC ) in Chinese populations. We hypothesized that genetic polymorphisms of phospholipase C epsilon 1 and C20orf54 are also associated with ESCC in a K orean population. The rs2274223 and rs13042395 genotyping was performed using high-resolution melting analysis. The rs2274223 GG genotype was significantly associated with an increased risk of ESCC (odds ratio [OR ] = 1.86, 95% confidence interval [CI ] = 1.08–3.25) compared with the rs2274223 AA genotype. The rs13042395 G allele showed a significantly decreased risk of ESCC in the younger age group (OR = 0.71, 95% CI = 0.52–0.97) and no significant association in the older group (OR = 1.19, 95% CI = 0.87–1.62). We observed that the rs2274223 polymorphism was associated with an increased risk of ESCC in this K orean case–control study and that age may modify the association between the rs13042395 polymorphism and the risk of ESCC .