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Abstract
Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide. The 5 year survival rate for esophageal cancer patients is very poor and accounts for only 12.3%. Besides environmental risk factors, genetic factors might play an important role in the esophageal cancer carcinogenesis. We conducted a hospital based case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): interleukin 9 (IL9) rs31563 C>T, IL9 rs31564 G>T, IL10 rs1800872 T>G, IL12A rs2243115 T>G, IL12B rs3212227 T>G and IL13 rs1800925 C>T on the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The genotypes were determined using a custom-by-design 48-Plex SNPscanTM Kit. The IL10 rs1800872 T>G polymorphism was associated with an increased risk of ESCC. However, there were no significant links with the other five SNPs. Stratified analyses indicated no significant risk of ESCC associated with the IL10 rs1800872 T>G polymorphism evident among any subgroups. These findings indicated that functional polymorphism IL10 rs1800872 T>G might contribute to ESCC susceptibility. However, our results were obtained with a limited sample size, so that the power of our analysis was low. Future larger studies with more rigorous study designs of other ethnic populations are required to confirm the current findings.
Highlights
Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide (Shinomiya et al, 1999; Parkin et al, 2005; Jemal et al, 2008)
Genetic factors might play an important role in the esophageal cancer carcinogenesis
We conducted a hospital based case–control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): interleukin 9 (IL9) rs31563 C>T, IL9 rs31564 G>T, IL10 rs1800872 T>G, IL12A rs2243115 T>G, IL12B rs3212227 T>G and IL13 rs1800925 C>T on the development of esophageal cancer
Summary
Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide (Shinomiya et al, 1999; Parkin et al, 2005; Jemal et al, 2008). The 5 years survival rate for esophageal cancer patients is very poor and accounts only 12.3% (Berrino et al, 2007). ESCC has multi-factorial etiology, besides environmental risk factors, accumulated evidence has shown genetic factors might play an important role in the ESCC carcinogenesis, including single nucleotide polymorphisms (SNPs) (Wu et al, 2011). Chronic inflammation in esophageal tissues may play a role in ESCC development and multiple genes that play critical roles in inflammatory pathways may be associated with ESCC risk. IL9 is a pleiotropic cytokine in the T helper cell type 1 (Th1):Th2 pathway. IL9 single nucleotide polymorphisms (SNPs) might have stronger risks of CMM in CDKN2A-positive families (Yang et al, 2009). Studies have shown that IL10 may be involved in the pathogenesis of many types of cancers (Howell et al, 2007). The maturation of Th1 cells from the naive CD4+ T cell pool is regulated by IL12 (Trinchieri et al, 2003), IL12 exhibits an immunoregulatory impact on T and NK cells by inducing IFN-γ biosynthesis from both cell types, augmenting
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