Abstract
BackgroundShort leukocyte telomere length has been associated with significantly increased risk of esophageal carcinoma. A previous genome-wide association study demonstrated that ACYP2 was associated with leukocyte telomere length. However, the role of ACYP2 genetic variants on esophageal carcinoma susceptibility is still unknown. Therefore, we investigated whether ACYP2 polymorphisms have impact on the risk of esophageal carcinoma in Chinese.Materials and MethodsWe conducted a case-control study among 386 cases and 495 healthy controls from northwest China. 14 SNPs in ACYP2 were selected and genotyped using Sequenom MassARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusting for age and gender.RESULTSWe found that 1.34-fold increased risk of esophageal carcinoma is associated with the rs11125529 A allele compared with the rs11125529 C allele (OR=1.29, 95%CI: 1.02-1.62, p=0.030) under the additive model, after adjusted by age and gender. We also found rs11896604 and rs17045754 loci increased the esophageal carcinoma risk under the additive model (rs11896604: OR=1.34, 95%CI: 1.03-1.76, p=0.032; rs17045754: OR=1.36, 95%CI: 1.03-1.80, p=0.028). One main linkage block was observed across the locus. This block was comprised of seven closely linked SNPs: rs1682111, rs843752, rs10439478, rs843645, rs11125529, rs843711 and rs11896604. The haplotype analysis detected that haplotype “TTCTATG” increased the risk of esophageal carcinoma (OR=1.38, 95%CI: 1.04-1.82, p=0.025).ConclusionIn conclusion, ACYP2 gene may be associated with an increased risk of esophageal carcinoma in Chinese Han populations. Future studies to address the biological function of this polymorphism in the development of esophageal carcinoma are warranted.
Highlights
Esophageal carcinoma (EC) is one of the most common cancers in our country, and the survival rate of five year is less than 15%, its clinical effect is still limited at present [1]
We found that 1.34-fold increased risk of esophageal carcinoma is associated with the rs11125529 A allele compared with the rs11125529 C allele (OR=1.29, 95%confidence intervals (CIs): 1.02-1.62, p=0.030) under the additive model, after adjusted by age and gender
We found rs11896604 and rs17045754 loci increased the esophageal carcinoma risk under the additive model
Summary
Esophageal carcinoma (EC) is one of the most common cancers in our country, and the survival rate of five year is less than 15%, its clinical effect is still limited at present [1]. Esophageal squamous cell carcinoma accounts for 90%. In terms of lifestyle, smoking has been identified can cause esophageal cancer, especially smoking and excessive drinking can significantly increase the risk of esophageal carcinoma [3, 4]. Genetic factors have an impact on the occurrence of esophageal carcinoma. Short leukocyte telomere length has been associated with significantly increased risk of esophageal carcinoma. The role of ACYP2 genetic variants on esophageal carcinoma susceptibility is still unknown. We investigated whether ACYP2 polymorphisms have impact on the risk of esophageal carcinoma in Chinese
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