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Abstract
Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide. 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 susceptibility of functional single nucleotide polymorphisms (SNPs) in the microRNAs on the development of esophageal cancer. A total of 629 esophageal squamous cell carcinoma (ESCC) cases and 686 controls were recruited for this study. The hsa-miR-34b/c rs4938723 T>C, pri-miR-124-1 rs531564 C>G, pre-miR-125a rs12975333 G>T and hsa-miR-423 rs6505162 C>A genotypes were determined using Ligation Detection Reaction (LDR) method. Our results demonstrated that hsa-miR-34b/c rs4938723 CC genotype had a decreased risk of ESCC. The association was evident among patients who never drinking. Hsa-miR-423 rs6505162 C>A might associated with a significantly increased risk of ESCC in patients who smoking. These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. However, our results were obtained with a limited sample size. Future larger studies with other ethnic populations are required to confirm current findings.
Highlights
MicroRNAs are tiny noncoding RNAs that act as posttranscriptional gene regulatory elements [1]
Hsa-miR-34b/c rs4938723 T.C polymorphism was associated with the risk of nasopharyngeal carcinoma [11], hepatocellular carcinoma [12], colorectal cancer [13] and breast cancer survival [14]
Minor allele frequency (MAF) in our controls was similar to MAF for Chinese in database for all four single nucleotide polymorphisms (SNPs) (Table 2)
Summary
MicroRNAs (miRNAs) are tiny noncoding RNAs that act as posttranscriptional gene regulatory elements [1]. MiRNAs act by binding to the 3’-untranslated region of target genes and to down-regulate their expression [2]. MiRNAs are important players in carcinogenesis [3] Genetic factors, such as single nucleotide polymorphisms (SNPs), may contribute to carcinogenesis [4]. In previous studies in colorectal cancer [7], oral cancer [8] and malignant melanoma [9], down-regulation of mir-34b/c by methylation was found. Hsa-miR-34b/c rs4938723 polymorphism is located within the CpG island of pri-miR-34b/c, and might be the predicted binding site for GATA-X transcription factors [10]. Hsa-miR-34b/c rs4938723 T.C polymorphism was associated with the risk of nasopharyngeal carcinoma [11], hepatocellular carcinoma [12], colorectal cancer [13] and breast cancer survival [14]
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